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Mothers’ experiences of continuing their pregnancy after prenatally receiving a diagnosis of Down syndrome Asgarova, Sevinj 2019

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 MOTHERS’ EXPERIENCES OF CONTINUING THEIR PREGNANCY AFTER PRENATALLY RECEIVING A DIAGNOSIS OF DOWN SYNDROME by Sevinj Asgarova  B.A., Azerbaijan University of Languages, 1998 M.A., Azerbaijan University of Languages, 2000 M.S.W., Washington University in St. Louis, 2009    A THESIS SUBMITTED IN PARTIAL FULFILLMENT OF THE REQUIREMENTS FOR THE DEGREE OF  DOCTOR OF PHILOSOPHY 
in
  The Faculty of Graduate and Postdoctoral Studies
 (Social Work)
  THE UNIVERSITY OF BRITISH COLUMBIA
 (Vancouver)
 October 2019   © Sevinj Asgarova, 2019 ii  The following individuals certify that they have read, and recommend to the Faculty of Graduate and Postdoctoral Studies for acceptance, the dissertation entitled: Mothers’ Experiences of Continuing Their Pregnancy after Prenatally Receiving a Diagnosis of Down Syndrome   submitted by Sevinj Asgarova in partial fulfillment of the requirements for the degree of Doctor of Philosophy  in Social Work  Examining Committee: Dr. Timothy Stainton Supervisor  Dr. Rachelle Hole Supervisory Committee Member  Dr. Laura Nimmon Supervisory Committee Member Dr. Deborah O'Connor University Examiner Dr. William H. McKellin University Examiner  Additional Supervisory Committee Members:  Supervisory Committee Member  Supervisory Committee Member      iii  Abstract  Within the last few decades, major advances in the field of prenatal testing have transpired yet little research regarding the experiences of mothers who chose to continue their pregnancies after prenatally receiving a diagnosis of Down syndrome (DS) has been undertaken. Using social constructionism and interpretive description, this retrospective research study explores this topic from the point of view of the mothers involved and provides insight as to how the experience could be improved.  Using purposive sampling 23 mothers were recruited from British Columbia (n=11) and Ontario (n=12) in Canada. Data retrieved through semi-structured in-depth interviews were analyzed using inductive, constant comparative analysis, the major analytical techniques of interpretive description. Four primary phases emerged from the data analysis 1) healthcare professional-mothers communications, 2) initial emotional response, 3) subsequent decision-making and 4) an adjustment and reorganization of life style to the preparation for the birth of the child. This study validates the individualized and contextualized nature of mothers’ decisions as influenced by multiple factors, with moral values/spiritual beliefs being significant.  The mothers’ ability to cope was affected by the information communicated to them about their unborn baby’s diagnosis and the manner in which that information was delivered to them. Mothers used emotional coping strategies, dependent upon support from partners, family and friends, as well as from other families who have children with DS. Additionally, they employed practical coping strategies, such as engaging in healthcare planning, seeking relevant information, and reimagining and reorganizing their life style. Over time many families gained a sense of control over their situation and readjusted to the preparation for the birth of the child. Many mothers expressed the importance of maintaining positivity and hopefulness with respect to positive outcomes and opportunities for their children. The comprehensive information generated through this study will also provide healthcare professionals with relevant information to assist them in understanding the informational and emotional needs of these mothers. This should lead to an improvement in their practice and enhance their ability to intervene appropriately and effectively, better offering improved support to parents dealing with a diagnosis of DS for their child.  iv  Lay Summary  Prenatal Testing has expanded rapidly and become a routine standard of prenatal care in Canada. Advancements in genetic technology allow fetal diagnosis of many disabilities, with Down syndrome being the most frequently screened intellectual disability. Although the use of genetic technology enables expectant parents to know the health of the foetus during pregnancy, a positive outcome may be an emotionally complex experience for many.  This qualitative study explores mothers’ experiences after prenatally having received a screen-positive result or diagnosis of Down syndrome until the birth of their child. It follows mothers from when they receive a screen-positive result, to their decision to continue with their pregnancies and to their arrival at a juncture of adjustment, reorganization of life priorities and preparation for the birth. This research study assists us in understanding the social, informational and emotional needs of these mothers, providing insight as to how to improve their experience.                   v  Preface   This dissertation is an original intellectual product of the author, S. Asgarova. Ethical approval for this research study was obtained from the University of British Columbia’s Behavioral Research Ethics Board. The certificate number for the study, entitled 'Practice of prenatal testing (PT) and parental reaction', is H14-01610.                           vi Table of Contents Abstract ......................................................................................................................................... iii Lay Summary ............................................................................................................................... iv Preface ............................................................................................................................................ v Table of Contents ......................................................................................................................... vi List of Tables ............................................................................................................................... xii List of Abbreviations ................................................................................................................. xiii Acknowledgements .................................................................................................................... xiv CHAPTER 1: INTRODUCTION ................................................................................................ 1 1.1. Background to the Study ................................................................................................... 1 1.2. Problem Statement............................................................................................................. 3 1.3. Purpose of Research Study ............................................................................................... 4 1.4. Research Questions ............................................................................................................ 5 1.5. Overview of the Dissertation ............................................................................................. 5 CHAPTER 2: LITERATURE REVIEW ................................................................................... 7 2.1. Introduction ........................................................................................................................ 7 2.2. Prenatal Testing and Mothers’ Experiences…. .............................................................. 8 2.2.1. Down Syndrome ........................................................................................................... 8 2.2.2. Clinical Practice Guideline ........................................................................................... 8 2.2.3. Prenatal Screening and Diagnostic Testing for Down Syndrome .....................……..10 2.2.4. The Impact of Prenatal Testing on Termination of Pregnancy and Live Birth Rates for Down Syndrome …………………………………………………………………………....13 2.3. Key Arguments for and against Introduction of Prenatal Testing ............................. 15 2.3.1. Key Arguments for Prenatal Testing .......................................................................... 15 2.3.2. Key Arguments against Prenatal Testing and Selective Abortion .............................. 18 2.4. Mothers’ Experiences after a Prenatal Diagnosis of Down Syndrome ....................... 20 2.4.1. The Role and Impact of Genetic and Other Forms of Counselling during the Pre and Post Diagnosis Phases……………………………………………………………………....20 2.4.2. Mothers’ Decision-Making after Prenatal Diagnosis of Down Syndrome ................. 29 2.4.3. Mothers’ Adjustment Process ..................................................................................... 33 vii  2.5. Conceptualization, Definitions and Models of Disability……………………………..35 2.5.1. Introduction ............................................................................................................... 36  2.5.2. Definitions and Models of Disability ...................................................................... .37 2.5.2.1. The Traditional/Moral/Religious Model ................................................................37 2.5.2.2. The Medical Model of Disability ..........................................................................38 Biomedical Definitions of Disability………………………………...………………...39 Repercussions of the Medical Model…………………………………………………..40 2.5.2.3. The Social Model of Disability and the Rights-Driven Perspective ......................42 Social Model Definitions of Disability…………………………………………...……43 Repercussions of the Social Model…………………………………………………….45 Critiques of the Social Model……………………………………………….………….45 2.5.2.4. The Identity Model (or Affirmation Model) of Disability .....................................48 2.5.2.5. The Cultural Model of Disability ..........................................................................51 Social Constructions of Disability……………………………………………………...54 Framing Bodily Difference: Stigma and Its Effects……………………………………55 Intersectionality………………………………………………………………………...56 2.5.3. Summary ..................................................................................................................... 57  2.6. Chapter Summary ........................................................................................................... 58  CHAPTER 3: APPROACH TO INQUIRY, METHODOLOGY, AND STUDY DESIGN.. 60  3.1. Introduction ...................................................................................................................... 60  3.2. Epistemology .................................................................................................................... 61 3.2.1. Social Constructionism ............................................................................................... 61 3.2.2. The Application of Social Constructionism to Mothers’ Adjustment to the Diagnosis of Down Syndrome…………………………………………………………………............62  3.3. Methodology ..................................................................................................................... 64 3.3.1. Reasons for Using a Qualitative Research Approach ................................................. 64 3.3.2. Interpretive Description .............................................................................................. 65  3.4. Methods ............................................................................................................................. 68 3.4.1. Sample Selection and Size .......................................................................................... 68 3.4.2. Recruitment ................................................................................................................. 70 3.4.3. Ethical Considerations ................................................................................................ 71 Consent ...............................................................................................................................71 Confidentiality and Data Management ...............................................................................72  3.5. Data Collection ................................................................................................................. 73 3.5.1. Interviews .................................................................................................................... 73 3.5.2. Field Notes and Memos .............................................................................................. 76   viii   3.6. Data Analysis .................................................................................................................... 77 3.7. Ensuring Quality in Research ......................................................................................... 81 3.8. Researcher Perspective and Reflexivity ......................................................................... 84 3.9. Limitation in Applying Interpretive Description .......................................................... 87  3.10. Chapter Summary ......................................................................................................... 88   CHAPTER 4: DESCRIPTIVE INFORMATION.................................................................... 90  4.1. Introduction ...................................................................................................................... 90  4.2. Description of Interview Participants ............................................................................ 90 Ethnicity, Relationship Status and Religious Beliefs .........................................................90 Education Level, Work Experience and Income Level ......................................................90 Mothers’ Age at the Time of the Interview and Delivery; Age and Gender of the Child with DS; Diagnosis of DS or Other Disability among Their Other Children .................... 91 Mothers’ Previous Experience of Termination, Miscarriage and Fertility .........................91 Previous Contact with People with DS or Other Disability; or Family History .................92  4.3. Description of Prenatal Screening/Diagnostic Testing Decisions by Mothers ........... 94 How Mothers Learned of Their Child’s Diagnosis ............................................................... 94 The Reasons for Performing or Declining Invasive Pre-Natal Testing (Amniocentesis and CVS) ..................................................................................................................................... 96  CHAPTER 5: FINDINGS .......................................................................................................... 98  5.1. Introduction ...................................................................................................................... 98  Category 1: Healthcare Professional-Mothers Interactions/Communication During Prenatal Appointments ........................................................................................................... 99  Theme 1.1. Manner of Disclosure ...................................................................................... 99 Ways of Delivering the News (in Person and over the Phone) ........................................100 A Sense of Time Pressure and Feeling Rushed ................................................................102 Adequacy (Appropriateness) of the Initial Explanation ...................................................103 Confusion and Disillusionment during Early Experiences with Medical Professionals ..105 The Provision of Psycho-Social and Emotional Support .................................................107     ix Theme 1.2. Presentation of Screening and Diagnostic Testing for DS ......................... 108 Lack of Clarity of the Purpose and Implications of Testing .............................................109 Inconsistency in Explanation of All Test Options – Not Equal Weight on Each Test Option .............................................................................................................................. 110 Repercussions of Positive Framing of Screen-Positive Result .........................................112 Theme 1.3. Pregnancy Management Options and Resources Offered Following a Screen-Positive Result or Diagnosis of DS ................................................................... 114 Pregnancy Management Options ......................................................................................115 Insistence on the Termination………………………………………………………...115 Continuation of the Pregnancy………………………………………………………..118 Adoption ........................................................................................................................119 Communication Regarding a Diagnosis of DS and Life with DS ....................................119 Medical Aspects ............................................................................................................121 Social Aspects ...............................................................................................................123 Connecting with Other Families ...................................................................................125 Information, Resources and Printed Materials ..............................................................125 Funding Resources ........................................................................................................127 Category 2: Initial Feelings and Experience of Mothers Facing Positive Results of Prenatal Testing .................................................................................................................... 128 Theme 2.1. Initial (Primary) Emotional Reaction ......................................................... 128 Theme 2.2. Expectation of Normalcy vs. Reality ........................................................... 132 Theme 2.3. Self-Blame and a Sense of Guilt ................................................................... 136 Theme 2.4. Initial Sense of Meaning Making ................................................................. 140 Category 3: Decisional Processes of Continuing Their Pregnancy .................................. 143 Theme 3.1.The Decision-Making Process/Timing of the Decision ............................... 144 Theme 3.2. Factors Affecting Decision-Making ............................................................. 146 Religious Background and Personal Belief System ......................................................146 Economic Status, Education Levels and Professional Background ..............................149 Maternal Age, History of Miscarriages and IVF ..........................................................150 Emotional Attachment ..................................................................................................151 Theme 3.3. Social Support Needs (Proximal Social Context) ....................................... 152 Theme 3.4.Telling Family Members and Friends .......................................................... 155 When and Who They Decided to Disclose ...................................................................... 156 How to Disclose Their Decision and What to Say .......................................................... 157 x  Theme 3.5. Reactions to Mothers’ Decision/Dealing with Family and Friends .......... 158 Helpful experiences ......................................................................................................... 158 Unhelpful Experiences ..................................................................................................... 159  Category 4: Adjustment Process to the Diagnosis of DS and Preparation for the Birth of the Child with DS .................................................................................................................. 163  Theme 4.1. General Coping/Mental Coping ................................................................... 164 Stress and Anxiety Associated with Test Results ............................................................ 166 Revision of Expectations and Priorities – Cognitive Adaptation .................................... 169 Coming to Terms with Accepting the Diagnosis and Time of Acceptance ..................... 171 Rewarding/Positive Experience ....................................................................................... 174 Individual Variation in the Adjustment Process .............................................................. 174  Theme 4.2. Emotional Coping .......................................................................................... 175 Partner Support - Marital cohesion (refers to the bonding relationships between partners on an emotional level) ...................................................................................................... 176 Described Gender Differences in Coping .....................................................................177 Family and Friends .......................................................................................................... 181 Connecting with Other Families ...................................................................................... 182 Faith/Religion/Spirituality ............................................................................................... 185 Counselling ...................................................................................................................... 187  Theme 4.3. Practical Coping ............................................................................................ 188 Reorganization of Life Style ............................................................................................ 189 Healthcare Planning ......................................................................................................... 191 Seeking Information, Research ........................................................................................ 194  Theme 4.4. Unhelpful Experiences .................................................................................. 196 Difficulties in Navigating Appropriate Resources ........................................................... 196 Impact on Other Children ................................................................................................ 201 Misconception/Societal View/Public Reaction................................................................ 203 What Does the Future Hold? (Worries about the Unpredictable Future of the Child) .... 208  5.2. Chapter Summary ......................................................................................................... 210   CHAPTER 6: DISCUSSION, PRACTICE IMPLICATIONS AND CONCLUSION ....... 213  6.1. Introduction .................................................................................................................... 213  6.2. Discussion........................................................................................................................ 214 Prenatal Screening/Diagnostic Testing Decisions by Mothers ........................................... 214   xi  Category 1: Healthcare Professional-Mothers Interactions/Communication during Prenatal Appointments ......................................................................................................... 215  Manner of Disclosure .......................................................................................................... 218 Presentation of Screening and Diagnostic Testing for DS .................................................. 222 Pregnancy Management Options and Resources Offered Following a Screen-Positive Result or Diagnosis of DS .............................................................................................................. 224 Pregnancy Management Options ..................................................................................... 224 Communication Regarding a Diagnosis of DS and Life with DS ................................... 225  Category 2: Initial Feelings and Experience of Mothers Facing Positive Results of Prenatal Testing .................................................................................................................... 231  Category 3: Decisional Processes of Continuing Their Pregnancy .................................. 233  The Decision-Making Process/Timing of the Decision ...................................................... 234 Factors Affecting Decision-Making.................................................................................... 235 Telling Family Members and Friends ................................................................................. 239 Reactions to Mothers’ Decision .......................................................................................... 240  Category 4: Adjustment Process to the Diagnosis of DS and Preparation for the Birth of the Child with DS .................................................................................................................. 241  General Coping/Mental Coping .......................................................................................... 242 Emotional Coping ............................................................................................................... 246 Practical Coping .................................................................................................................. 250 Unhelpful Experiences ........................................................................................................ 252  6.3. Implications for Practice ............................................................................................... 255  6.4. Study Strengths, Limitations, and Areas for Future Research ................................. 259  6.5. Conclusion ...................................................................................................................... 262  References .................................................................................................................................. 265   APPENDIX A: Recruitment Advertisement .......................................................................... 292 APPENDIX B: Interview Consent Form ................................................................................ 293 APPENDIX C: Initial Interview Guide .................................................................................. 297     xii   List of Tables  Table 1: Summary of Participants Characteristics in British Columbia and Ontario....................92 Table 2: Description of Test/Procedure and Chance of Down Syndrome.....................................95                                        xiii   List of Abbreviations  ACMG:   American College of Medical Genetics and Genomics ACOG:   American College of Obstetrics and Gynecologists  ASHG:   American Society of Human Genetics BCODP:  British Council of Organizations of Disabled People CDSS:   Canadian Down Syndrome Society cffDNA/RNA:  Cell-free fetal DNA/RNA CVS:    Chorionic Villus Sampling DPI:    Disabled People’s International DS:    Down Syndrome  DSAT:   Down Syndrome Association of Toronto DSAYR  Down Syndrome Association of York Region DSRF:   Down Syndrome Research Foundation ESHG:   European Society of Human Genetics FVDSS:  Fraser Valley Down Syndrome Society  HDSA:  Halton Down Syndrome Association ICIDH:  International Classification of Impairments, Disabilities and Handicaps ID:   Interpretive Description ISPD:   International Society for Prenatal Diagnosis LMDSS:  Lower Mainland Down Syndrome Society  MSS:   Maternal Serum Screening NDSS:   National Down Syndrome Society NIPT:   Non-invasive Prenatal Testing NSGC:  National Society of Genetic Counselors NTS:   Nuchal Translucency Screening PND:    Prenatal Diagnosis Test PNS:    Prenatal Screening Test PT:    Prenatal Testing SMFM:  Society for Maternal-Fetal Medicine SOGC:   Society of Obstetricians and Gynecologists of Canada  UN CRPD:  United Nations Convention on the Rights of Persons with Disabilities UPIAS:   Union of the Physically Impaired Against Segregation WHO:   The World Health Organization            xiv   Acknowledgements   I would like to dedicate my PhD thesis to my mother. I started on this journey with her moral support and encouragement, travelling halfway across the globe to accomplish this goal, only to lose her before this task was completed. Without her, I wouldn’t have had the strength to continue towards this degree. My sincerest thanks go to the mothers who agreed to participate in this study. They generously opened their lives to me, told me their stories and hoped that their involvement would improve the experiences of new mothers facing the challenges that they faced. This goal made me realize the value of my study and helped me to persevere, even when I felt that I was affected emotionally by their accounts. I hope that being able to share their experiences was a cathartic process for them, knowing that their struggles were important not just to them themselves, but also important to society as a whole. I would also like to thank my supervisor, Dr. Timothy Stainton for sharing his knowledge on the subject of disability, which formed the backbone of my thesis. Additionally, I would like to acknowledge his general guidance, advice, support and, most of all, his patience as I navigated the complexities of this project.  Without the support, and input of my committee members, this project would not have been completed. I would like to thank Dr. Rachelle Hole for her feedback and advice on the methodological aspects of this research project. I am very grateful for Dr. Laura Nimmon for generously accepting the invitation to join my team late in the process. Thank you very much for sharing your knowledge and expertise.  And finally, my deepest thanks go to my friend, John Fee who has stood by me on this project and assisted me in arranging interviews, editing drafts of this dissertation, providing feedback and emotional support. Thank you.1  CHAPTER 1: INTRODUCTION 1.1. Background to the Study  Recent advancements in medical technology have made prenatal testing (PT) and detection of various genetic disabilities much easier than it was in the past (Munger, Gill, Ormond, & Kirschner, 2007). In 2007, the American College of Obstetrics and Gynecologists (ACOG) recommended that all pregnant women be offered prenatal screening or diagnostic tests regardless of maternal age cut-off and “high risk status”(ACOG Practice Bulletin, 2016a; ACOG Practice Bulletin, 2007a; Driscoll & Gross, 2009; Seavilleklein, 2009). However, Canadian clinical practice guidelines recommend aneuploidy screening prior to diagnostic testing (Chitayat, Langlois, & Wilson, 2011). As advanced technologies, such as non-invasive prenatal testing (NIPT) become more widely available, the ACOG and American College of Medical Genetics and Genomics (ACMG) are more permissive in recommending NIPT as first-tier screening test, regardless of pregnant women's risk and age (ACOG Committee Opinion, 2015; Benn et al., 2015; Gregg et al., 2016). Conversely, the current mainstream use of NIPT in Canada remains as a second-tier screening test offered to pregnant women identified as being at increased risk of fetal aneuploidies (Langlois et al., 2013). Prenatal testing (PT) is a contested topic, with implications about society’s attitude to disability, values and human nature. While the expectant women who use the tests are usually worried about their children's health, the political, legal, and medical communities have their own reasons for promoting large-scale screening for fetal defects. The chief purpose and benefit of PT is that providing the prospective parents with information about the health status of the fetus will enable them to make an informed and rational decision (Edward, 2003; Lawson & Pierson, 2007; Wilkinson, 2015). Research has shown that prenatal testing enables women to consider avoiding the birth of a child with a disabling trait (Hubbard, 2013; Saxton, 2013). In fact, worldwide childbirth trends indicate that women are delaying parenthood to older ages. Given the positive association between increasing maternal age and risk of having a Down syndrome, we would anticipate more babies to be born with DS now as compared to10 years ago. What we are seeing, in fact, is an overall decrease in incidence rates (Skotko, 2009a). Previous studies have revealed conflicting results regarding trends of termination rates over time following the diagnosis of different types of fetal abnormalities. Down syndrome (DS) is the most common and most frequently screened intellectual disability potentially leading to 2  termination worldwide, with a range from 67% to 85 % (Natoli, Ackerman, McDermott, & Edwards, 2012) to 87% (Shaffer, Caughey, & Norton, 2006) to 92% (Mansfield, Hopfer, & Marteau, 1999). Joseph et al. (2013) reported that the prevalence of congenital anomalies among live-born infants decreased in British Columbia significantly, from 5.21 per 100 live births during the first 3 years (2000-02) to 4.77 per 100 during the final 3 years (2008-10) (9% decrease, 95% CI 5% to 12%). Similarly, de Graaf, Buckley, and Skotko (2015) showed an overall 30% decrease in the numbers of babies with DS in the United States that could have been born in 2006–2010. During this period, the US had about 3,100 DS-related elective pregnancy terminations and 5,300 live births with DS annually (de Graaf et al., 2015). Comparatively, the reduction of live birth of children with DS resulting from elective pregnancy termination was estimated at 55% in Australia as of 2004 (Bittles, Bower, Hussain, & Glasson, 2007); at 48% in the UK (England and Wales) as of 2008 (Morris & Alberman, 2009); at 94% in Taiwan as of 2010 (Lin et al., 2013); 55% fewer in China as of 2011 (Deng et al., 2015) and at 50% in the Netherlands as of 2015 (de Graaf et al., 2017).  Given the history of our society’s abusive treatment of people with disabilities during the eugenics movement (Hubbard, 2013; Munger et al., 2007), the implications of prenatal testing still causes tensions between medical and social communities holding different perspectives about disability. Bryant, Green, and Hewison (2006) describe the apparent paradox of health and social care policies that pursue a dichotomous approach to disability, noting the “rights of the individuals with disabilities to a family, an education, employment and medical care,” while also backing the “means by which these individuals could, in the case of Down’s syndrome at least, be eradicated” (p. 1189). Disability activists have argued that this trend has a significant detrimental impact on existing persons with disabilities (Parens & Asch, 2000; Wendell, 1996). Disability rights critiques point out that prenatal diagnosis followed by selective abortion reinforces the societal discrimination and prejudice against people with disabilities (Parens & Asch, 2000). Given these prevailing societal pressures and potential refusal of medical services or benefits for the disabled child, a free and autonomous decision by prospective parents to terminate or continue a pregnancy of a child with DS would appear impossible.  Most of prior empirical studies on decision-making have examined factors related to decisions about termination after detection of fetal disease. They have mainly compared demographic characteristics, such as religious and spiritual beliefs (Bell & Stoneman, 2000; 3  Hurford, Hawkins, Hudgins, & Taylor, 2013; Leung et al., 2004; Skotko, 2005b); socio-economic status (Korenromp, Page-Christiaens, van den Bout, Mulder & Visser, 2007; Roberts, Stough, & Parrish, 2002); maternal race/ethnicity (Jackson, Crider, Cragan, Rasmussen & Olney, 2014; Hawkins, Stenzel, Taylor, Chock, & Hudgins, 2013; Shaffer et al., 2006); and maternal age (Bryant, Hewison, & Green, 2005; Shaffer et al., 2006). However, a few studies attempted to go beyond demographic characteristics and explore the factors at the immediate level, proximate social context and the most distal context to explain the complexity of parental decisions (Brookes, 2001; Garcia, Timmerman, & van Leeuwen, 2011; Lalvani, 2008; Lawson & Pierson, 2007; Lawson & Walls-Ingram, 2010; Reed & Berrier, 2017).  However, less attention has been paid to the experiences of mothers who continued their pregnancy after receiving a prenatal diagnosis and their adjustment process to the diagnosis. Although PT has a positive aspect providing information about the health status of the fetus, it can also create a negative emotional experience for women when they are confronted with a diagnosis of fetal abnormality. How women make a decision to continue with their pregnancies and deal with the subsequent adjustment are important questions that challenge us both individually and as a society. While the majority of studies have focused on parents’ postnatal support and adjustment process, little is currently available in the professional literature about the prenatal adjustment process of parents in Canada. This existing gap leads me to seek information about the decision-making and adjustment process of parents who decided to continue their pregnancy after receiving a prenatal diagnosis of DS, which is the main focus of this research.       1.2. Problem Statement  In spite of clashing views and values among medical and disability communities, today prenatal testing has entered into general use and has brought changes to the experience of pregnancy for many women. Following the unfavorable result of a diagnostic test, parents are confronted with having to make a difficult decision – continue or terminate the pregnancy. While several studies have examined factors related to decisions about termination after detection of fetal disease, there is minimal knowledge about the decision to continue a pregnancy after receiving a prenatal diagnosis. More importantly, little is known about the prenatal adjustment process of mothers who received a prenatal diagnosis and continued a pregnancy. 4  Available research findings show that there are differences between the adjustment experiences of parents who received diagnoses prenatally and postnatally. Van Riper (1999) indicated that parents were able to celebrate the child’s birth because they were aware of their child’s diagnosis of DS prenatally and already had time to grieve the loss of the “expected child” (Van Riper, 1999). Skotko (2005b) also found that mothers who became aware of the prenatal diagnosis appear to be happier with the birth of their child than those who received the diagnosis postnatally. These pattern can be attributed to the fact that earlier knowledge of the diagnosis results would allow mothers more time for more education, acceptance of the condition and practical preparation for their child’s birth and care (Hurford et al., 2013; Skotko, 2005b; Van Riper, 1999). These findings also make us aware of the gaps that exist in our current understanding and knowledge about these mothers' experiences of post-diagnostic adjustment.  The available studies mainly investigated parents' experiences with health care providers as a potential significant step for the process of adjustment to their child’s condition (Helm, Miranda, & Chedd, 1998; Skotko, 2005b). Despite a plethora of empirical work around informed choice, there is limited research that explored the experience of continuing with a pregnancy after prenatally receiving a diagnosis of DS and the subsequent preparation for the birth of a child with DS in Canada. This project, aspires to address this gap.  The insight gained through such study will provide professionals (healthcare providers, social workers) with greater resources to adapt their actions and develop appropriate interventions in order to increase effective support for these mothers, which will in turn contribute to mothers’ adjustment process. This study will also be able to generate findings that would help support prospective parents when they receive a prenatal diagnosis of DS and choose to continue their pregnancy. The study will add knowledge about the process of parents' adjustment to upon having a child with DS in a broad cultural context. The project will also explore discourses on the processes of adaptation, acceptance, growth and coping mechanisms of parents that may challenge more dominant discourses on disability and its impact.  1.3. Purpose of Research Study  The main purpose of this retrospective research project is to understand mothers’ experiences of continuing the pregnancy after prenatally receiving a diagnosis of DS until delivery of their child. More specifically, this study seeks to explore and describe what it is like 5  for mothers to receive positive results of prenatal testing, how mothers make their decision to continue their pregnancy, how their post-diagnostic adjustment evolves over time, and what support or services help mothers’ process of adaptation and preparation for the birth of their child. Further, the project explores and describes their experiences dealing with health care professionals, family, relatives and community to illuminate how social and cultural values shape their post-diagnostic adjustment process. The study has the following specific objectives: 1. Explore and describe mothers’ experiences of the diagnostic process; 2. Explore and describe mothers’ experiences post-diagnostic adjustment;  3. Identify the major challenges that parents encountered during the post-diagnostic phase; 4. Identify the available services and support for the mothers who received a screen-positive result or a diagnosis of DS and decided to continue with pregnancy.   1.4. Research Questions  The broad question guiding this study is: “How do the mothers describe their experience of the post-diagnostic adjustment and preparation for the birth of a child after prenatally receiving a diagnosis of DS?” The following secondary questions were asked to explicate the primary research question: 1. How did mothers of children with DS experience prenatal test results?  2. What factors influenced their decision to continue with their pregnancy? 3. How did the receipt of diagnosis of DS influence different areas of their life in their social contexts? 4. What kind of support and services were provided to cope with challenges of the adjustment process and preparation for the birth of the child?   1.5. Overview of the Dissertation  This thesis is comprised of five chapters. Chapter 1 provides the thesis with a background on the problem and followed by the rationale for the study, the purpose of the study and the research questions.  In Chapter 2, I lay out the dominant themes in the related literature in order to identify how this study is informed by and contributes to knowledge about the practice of prenatal testing and parental reactions and experiences. I firstly give a detailed overview of some basic 6  information about DS, and discuss availability and regular usage of prenatal screening and diagnostic testing for DS. I then examine social and ethical implications by reviewing the key arguments for and against the introduction of prenatal testing. As a potential focal point in prenatal care, the role and impact of genetic counseling upon women's experiences and decision-making processes are also critically examined. I also provide a historical overview of the disability and highlight the link between social change, structural transformation and the meanings attached to disabilities, by reviewing and critically analyzing the major paradigms (religious, medical, social, identity (affirmation) and cultural levels) that inform the definition and construction of disability. I then reflect on how these major paradigms frame the practice of prenatal testing and impact mothers’ understanding of and reaction to a diagnosis of DS and other intellectual disabilities.  In Chapter 3, I provide the rationale for my epistemological and methodological choices. I describe how I conducted the study, with particular attention to the sample, activities of data collection and the analysis processes as well as the criteria for quality. I finish this chapter by describing the assumptions, experiences and theoretical lenses that I bring to the study.  The main findings of the research are presented in chapters 4 and 5. Chapter 4 provides a detailed description of sample characteristics or demographic data of the study participants, as well as their choices related to prenatal screening and diagnostic testing. I follow that description with the presentation of analysis findings in Chapter 5, in which I begin to discuss the core aspects of mothers’ experiences under four primary categories, which are 1)Healthcare Professional-Mothers Interactions/Communication During Prenatal Appointments, 2)Initial feelings and experience of mothers facing positive results of Prenatal Testing 3)Decisional processes of continuing their pregnancy and 4) Adjustment process to the diagnosis of DS and preparation to the birth of the child with DS. Mothers’ experiences were largely directed chronologically and topically by the interview guide. In the final chapter, I discuss the meaning and implication of the findings in light of existing knowledge in the filed as well as outlining recommendations for healthcare professionals, which will in turn contribute to mothers’ process of adaptation. I consider the strengths and limitations of the study and suggest areas for future research.    7  CHAPTER 2: LITERATURE REVIEW 2.1. Introduction  Increased utilization of prenatal testing has brought changes to the experience of pregnancy for many women. Although it has a positive aspect offering information about the health status of the fetus, it can be a negative emotional experience for women when they are confronted with a diagnosis of fetal abnormality. How women make a decision to continue with their pregnancies or terminate and deal with the subsequent adjustment are important questions that challenge us both individually and as a society. The following literature review explores research relevant to prenatal testing practice, the decision-making process regarding PT and pregnancy management choices, and mothers' experiences of post-diagnostic adjustment. The literature review is organized into three sections. The chapter begins by providing an overview of the literature pertaining to prenatal diagnosis of DS and other related intellectual disabilities. In this section, detailed information about purpose, characteristics and outcomes of each testing procedure and their impacts were described in order to provide a background for subsequent sections. The social and ethical implications of prenatal testing were then evaluated by reviewing the key arguments for and against the introduction of testing. In the second section, as a potential focal point in prenatal care, the role and impact of genetic counseling upon women's decision-making processes was critically examined and findings were summarized. In addition, parental experiences of different aspects of conceiving and raising children with DS, including factors influencing their decision-making and success as well as challenges associated with adjustment, were presented. Although the reviewed literature encompassed both prenatal and post-natal experiences of women, the main focus of the present research study was given to the pre-natal phase.  The final section focused on the conceptualizations, definitions and responses to disability at the religious, medical, social, identity (affirmation), and cultural levels. It explored the difference between an understanding of the disabled body as a social construction and as a medical problem. It also investigated the socio-cultural contexts in which the meanings associated with disability are embedded, and how embodiment is related to a disability identity in able-bodied culture. It concludes with an overview of how these major paradigms influenced 8  and framed the practice of PT and parental reaction to a diagnosis of DS and other intellectual disabilities.   2.2. Prenatal Testing and Mothers’ Experiences 2.2.1. Down Syndrome  Worldwide, Down syndrome (DS) is one of the most common congenital anomalies. It is caused by the presence of an extra copy of the 21st chromosome, a condition also known as “Trisomy 21” (Patterson & Costa, 2005). The overall incidence of trisomy 21 is estimated to be around 1 of every 800 live births in the general population (Driscoll & Gross, 2009a; Ehrich et al., 2011; Pivetti & Melotti, 2013).  First clinically described by Dr. John Langdon Down in 1866 (Down, 1866; Ward, 1998) DS can result in a number of other conditions including mild-to-moderate learning disabilities, cardiac defects, duodenal artesia, thyroid problems, visual and hearing impairments, increased risk of leukemia, seizures, and particular facial characteristics (Driscoll & Gross, 2009b). Usually, it is not inherited, and so a baby can be affected even if there is no history of DS in the family. It occurs in all races, ethnicities, religions and socio-economic backgrounds, in all countries throughout the world (Iannone & Meredith, 2010). Any woman may have a baby with DS. The chance of having a baby with DS is lower in younger women and increases with maternal age. For example, for a woman 20 years old at the time of delivery, the chance of having a child with DS is 1 in 1480; for a woman aged 35 years, the risk is 1 in 353; and for a woman at age 40, the risk is 1 in 85 (ACOG Practice Bulletin, 2016b).   2.2.2. Clinical Practice Guideline  Until 2007 practice patterns regarding PT for DS in the USA and Canada were similar (Inglis, Hippman, & Austin, 2012). Historically, screening test was available to all pregnant women (before 20 weeks of gestation), but diagnostic testing has been offered to women 35 years of age or older at the time of delivery and any women who received a screen-positive result indicating a higher chance of conceiving a baby with DS (Carrol et al., 2013; Driscoll & Gross, 2009b). The decision to use age as the primary indication for prenatal diagnosis was based on the increased risk associated with advancing maternal age. Later maternal age is removed as the 9  threshold for offering diagnostic testing, since the majority of children with DS are born to women younger than 35 years of age (Berkowitz, Roberts, & Minkoff, 2006). Therefore, in 2007 ACOG stated that all pregnant women, irrespective of age, should be offered, through an informed counseling process, screening or diagnostic testing for the detection of DS and other chromosomal anomalies (ACOG Practice Bulletin, 2007a; Driscoll & Gross, 2009b; Seavilleklein, 2009); while in Canada, direct access to invasive diagnostic testing remained limited only to women over the age of 40 at estimated time of delivery (Summers et al., 2007). However, since 2007 amendments have been made and it has been recommended in Canada that diagnostic testing be made available to all women defined as at an increased risk such as receiving a screen positive result, ultrasound findings or having history of a previously affected offspring regardless of age (Chitayat et al., 2011; Inglis et al., 2012). Wilson (2008) states that the recommendation by the Society of Obstetricians and Gynecologists of Canada (SOGC) is more of a “public health” approach within the government-supported health care system with limited resources, while the ACOG recommendation supports an “individual choice” approach within a private-pay system. With the introduction of NIPT into clinical prenatal practice, new screening protocol recommendations have been proposed. Initially, numerous professional societies, including the National Society of Genetic Counselors (NSGC), the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal-Fetal Medicine (SMFM), the American Congress of Obstetricians and Gynecologists (ACOG), the American College of Medical Genetics and Genomics (ACMG), the European Society of Human Genetics (ESHG) together with the American Society of Human Genetics (ASHG), the SOGC recommended NIPT as a screening option for women at high-risk for having a fetal aneuploidy (e.g. a screen positive result, advanced maternal age, prior affected pregnancy or family history) (ACOG Committee Opinion, 2012; Benn et al., 2013; Devers et al., 2013; Dondorp et al., 2015; Gregg et al., 2013; Langlois et al., 2013; Wilson et al., 2013).  More recently, based on the emerging data that demonstrated the accuracy of NIPT in a general obstetrical population (Bianchi et al., 2014; Nicolaides, Syngelaki, Ashoor, Birdir, & Touzet, 2012; Norton et al., 2015), the ACOG, ACMG, ESHG/ASHG and ISPD are more permissive in recommending NIPT as an initial screening option for all pregnant women regardless of maternal age or risk status (ACOG Committee Opinion, 2015; Benn et al., 2015; 10  Gregg et al., 2016). However, the current mainstream use of NIPT in Canada remains as a second-level contingent screening test offered to pregnant women identified by screening as having a high-risk pregnancy (Langlois et al., 2013).   2.2.3. Prenatal Screening and Diagnostic Testing for Down syndrome   The diagnosis of DS can be established prenatally (before birth) or postnatally (after birth). For more than 40 years, prenatal testing for disability related traits has become an accepted part of routine prenatal care (Gekas et al., 2014). Prenatal testing (PT) is widely accepted and the premise underlying PT is that knowing the health status of the fetus will enable prospective parents to make an informed and rational decision about whether to terminate or continue the pregnancy (Edwards, 2003; Lawson and Pierson, 2007), as well as prepare parents for the birth of their future child (Sooben, 2010). During pregnancy PT strategies consist of two components: prenatal screening tests (PNS) and prenatal diagnostic tests (PND). Screening options for chromosome aneuploidy are non-invasive, but do not provide a definitive diagnosis. They indicate a risk of an affected pregnancy and can also be used to decide whether or not invasive diagnostic testing is needed. In contrast, diagnostic testing options that are invasive procedures allow the definitive prenatal diagnosis of the condition in an embryo or a fetus (Gekas et al., 2016; Natoli et al., 2012; Wilson et al., 2013).   Non-invasive procedures introduced in 1984, which involves Maternal Serum Screening (MSS) (at 9-14 weeks’ gestation), ultrasound and Nuchal Translucency Screening (NTS) (11-14 weeks), are actually low risk with suboptimal sensitivity and specificity (ACOG Practice Bulletin, 2007b; Kooij, Tymstra & van den Berg, 2009; Sparks, Struble, Wang, Song, & Oliphant, 2012). Such procedures offered to women younger than 35 years usually allow an individual risk assessment of DS and other disability related impairments (up to 90% detection rate with 2-5% false-positive rate) (Kooij et al., 2009; Palomaki et al., 2011).   Invasive procedures, such as chorionic villus sampling (CVS at 10–13 weeks of gestation) or amniocentesis (in the second trimester at 15–18 weeks of gestation) that have been available since the mid 1960s, are mainly offered to women found to be at “high risk” for such aneuploidies following positive screening results (ACOG Practice Bulletin, 2016b; de Jong, Dondorp, de Die-Smulders, Frints, & Wert, 2010; Minear, Alessi, Allyse, Michie, & 11  Chandrasekharan, 2015; Summers et al., 2007). Although these techniques deliver a definitive diagnosis of fetal chromosomal aneuploidies than screening procedures, they carry significant health risk to the fetus and mother, including risks of pregnancy complications and loss in 0.6% to 1.0% (1/175–1/100) of the pregnancies (Sparks et al., 2012; Wilson et al., 2007).  Recently, there have been significant clinical advancements in prenatal screening that have the potential to diagnose with much higher clinical sensitivity, specificity and accuracy than alternative screening modalities (de Jong et al., 2010; Ehrich et al., 2011; Kooij et al., 2009). Noninvasive prenatal testing (NIPT) using cell-free fetal DNA/RNA (cffDNA/RNA) from maternal plasma, which was discovered by Lo et al. in 1997, allows an easy, reliable and safe testing in early pregnancy (Allyse et al., 2015; de Jong et al., 2010; Devers et al., 2013; Gregg et al., 2013; Langlois et al., 2013). NIPT was first introduced in Hong Kong in August 2011 (Lau et al., 2012) and was soon made available commercially to patients in the United States (Agarwal, Sayres, Cho, Cook-Deegan, & Chandrasekharan, 2013; Chandrasekharan, Minnear, Hung, & Allyse, 2014; Devers et al., 2013). In Canada it has been available since 2013 (Chan, Johnson, Wilson, & Metcalfe, 2018). By 2014, NIPT has been employed in over 60 countries on six continents (Allyse et al., 2015).  Testing with NIPT can be performed as early as 9 to 10 weeks of gestation until term (ACOG Committee Opinion, 2015; ACOG Practice Bulletin, 2016b; Audibert  et al, 2017; Ben et al., 2015). In a recent meta-analysis in which the results of a large number of studies were pooled, in singleton pregnancies, an overall detection rate for trisomy 21 was reported as 99.7% (at a false positive rate of 0.04%). For twin pregnancies, the detection rate for trisomy 21 was 100% (95% CI, 95.2–100%) and the false positive rate was 0.0% (95% CI, 0.0–0.003%) (Gil, Accurti, Santacruz, Plana, & Nicolaides, 2017). For trisomy 18, the weighted pooled detection rates and false-positive rates were 97.9% and about 0.04% respectively, whereas for trisomy 13, they were 99.0% and about 0.04%, respectively (Gil et al., 2017).  The introduction of this test has several advantages:  a) safety – without the risk of miscarriage associated with existing diagnostic tests, b) reliability – greater accuracy than existing screening tests,  c) ease, simplicity and comfort – less pain and discomfort than invasive tests, and d) earlier reassurance in the pregnancy (offering earlier results in the first trimester), a longer timeline for making choice and the possibility of an early abortion, which may be 12  physically and psychologically less burdening for women (de Jong et al., 2010; Ravitsky, 2015).  However, despite the superior test performance characteristics, there are several limitations to this testing. Although NIPT is sometimes seen as a potential method of non-invasive prenatal diagnosis (NIPD) (an intermediate test), it does not provide an accurate identification of DS affected pregnancies that could be sufficient to substitute existing invasive diagnostic testing (Hawkins et al., 2013). This testing can detect only trisomy 21, trisomy 18, trisomy 13, and sex chromosome abnormalities (if requested). It also has a lower test failure rates due to insufficient cfDNA in maternal plasma (ACOG Committee Opinion, 2015; Gregg et al., 2016; Langlois et al., 2013). As a result, clinical practice guidance in North America and the ISPD recommend that a positive NIPT for aneuploidy should be confirmed with invasive diagnostic testing and pregnancy management decisions should not be made based on NIPT alone (ACOG Committee Opinion, 2015; Audibert et al, 2017; Benn et al., 2015; Greg et al., 2013; Langlois et al., 2013; SMFM, 2015). Since existing data for twin pregnancy are insufficient for the moment, results should be considered with caution (Audibert et al, 2017; Greg et al., 2013). Currently, public funding of NIPT is still uncommon (Ravitsky, 2015). In the US, some private insurance, public insurance/health care programs, and government health plans cover certain uses of NIPT (Allyse et al., 2015; Minear et al., 2015). However, in Canada, universal access to NIPT as a primary screening method has not yet been considered to be fiscally feasible in most provinces (Audibert et al, 2017). NIPT does not appear to be cost-effective for publicly funded screening programs as first-line test (Nshimyumukiza, Menon, Hina, Rousseau, & Reinharz, 2018). Only the provinces of Ontario (ON) (Gamma Dynacare, 2014; Vanstone, Yacoub, Giacomini, Hulan, & McDonald, 2015) and British Columbia (BC) (BC PS, 2017; Audibert et al, 2017) provide reimbursement for this test but only for pregnant women at high risk of fetal aneuploidies. A very recent systematic review performed by Vanstone, Cernat, Majood, Trivedi, and de Freitas (2019) reported that Manitoba (MB), Prince Edward Island (PE), and Quebec (QC) also have confirmed public funding of NIPT for high-risk pregnancies. In the other provinces, it is offered based on an informed consent, self-pay basis or via private insurers.  Several studies validate NIPT as a reliable screening tool for trisomy 21, 13, and 18 and monosomy X (Turner syndrome) primarily in high-risk group of pregnant women (who are 13  defined by maternal age, family history or other screening methods) (Bianchi et al., 2012; Palomaki et al., 2011, 2012). In addition, more recently, some have concluded, based on emerging data, that the NIPT has the potential to be a highly effective first-tier screening test for all pregnant women (Langlois et al., 2017; Nshimyumukiza et al., 2018). However, since the performance of NIPT has been validated more extensively for high-risk pregnancies, SOGC currently recommends NIPT to be employed for this population as a second-level contingent screening test (after a positive result from currently used serum and ultrasound screening techniques) (Langlois et al., 2013). 
 2.2.4. The Impact of Prenatal Testing on Termination of Pregnancy and Live Birth Rates for Down Syndrome   The recent and rapid integration of NIPT in clinical practice has shifted the current prenatal testing paradigm, leading to a significant reduction in the usage of invasive diagnostic procedures (Langlois et al., 2017). Given potential routinized or uncritical use of NIPT for DS, one could expect a growing number of women who may seek this testing and termination of pregnancy with a resultant significant decrease in the prevalence of DS among live births (Kellogg, Slattery, Hudgins, & Ormond, 2014; Lewis, Silcock, & Chitty, 2013; Skotko, 2009a; van Schendel et al., 2017; van Schendel et al., 2014). Previous studies have revealed conflicting results regarding trends of termination rates over time following the diagnosis of different types of fetal abnormalities. DS is the most common and most frequently screened and reported intellectual disability potentially leading to termination worldwide, representing a range from 67% to 85 % (Natoli et al., 2012) to 87% (Shaffer et al., 2006) to 92% (Mansfield et al., 1999).  Widespread availability and increasing uptake of prenatal testing and subsequent termination has resulted in a gap between affected pregnancies and actual live births of individuals with DS. In support of this position, Joseph et al. (2013) reported that the prevalence of congenital anomalies among live-born infants decreased in British Columbia significantly, from 5.21 per 100 live births during the first 3 years (2000-02) to 4.77 per 100 during the final 3 years (2008-10) (9% decrease, 95% CI 5% to 12%). Similarly, Skotko (2009a) showed that a 15% decrease in the number of babies born with DS represents a 49% difference between the expected and observed rates in the US. According to this study, in the absence of prenatal 14  testing, there would have been a 34% increase in live births with DS between 1989 and 2005, due to the trend of women waiting longer to have children, which increases the chances of having a baby with DS (Skotko, 2009a). A medical review of selective abortions in the UK and the US reported that more than 90 percent of women who learn they are carrying a child with DS decide to abort (Buley, 2011). In addition, several studies conducted prior to the introduction of NIPT have reported the reduction of live births of children with DS as compared to the expected numbers based on the prevalence of DS in the general population. These figures vary between countries: the reduction of live birth of children with DS resulting from elective pregnancy termination was estimated at 55% in Australia as of 2004 (Bittles et al., 2007), at 48% in the UK (England and Wales) as of 2008 (Morris & Alberman, 2009), at 94% in Taiwan as of 2010 (Lin et al., 2013); 55% fewer in China as of 2011 (Deng et al., 2015) and at 50% in the Netherlands as of 2015 (de Graaf et al., 2017). In the United States, by contrast, live birth prevalence for DS has been increasing since the 1980s  (de Graaf et al., 2015). This growth in DS live birth prevalence continued at least until 2008. Additionally, the reduction of live birth prevalence by elective terminations was relatively low, 30% during 2006–2010 (de Graaf et al., 2015) and 33% in the U.S. in 2011-2012 (de Graaf, Buckley & Skotko, 2018). Notably, a systematic review of termination rates in seven population-based studies published in the US from 1995 to 2011 revealed that 67% of women opted for termination of pregnancy following a prenatal diagnosis of DS (Natoli et al., 2012). This evidence suggests that termination rates specifically for DS have decreased in recent years. Another study in the US by Hawkins et al. (2013) report that the termination rate for DS is 87%, which is consistent with other hospital-based studies (Natoli et al., 2012 - 85% (range: 60%–90%); Shaffer et al., 2006 – 86%). Part of this termination trend likely stems from a society’s law and culture in which elective termination of a pregnancy with DS is legally available (Skotko & Bedia, 2006). In countries like Spain selective abortion is commonly employed, as both legal and financial incentives exist. Under the influence of such a system, prospective parents and health care providers might act upon these forces either consciously or subconsciously. However, in countries like United States and Denmark pregnant women are not vulnerable to any legal selective pressure to terminate a pregnancy with DS as all abortions are equally permissible. It is 15  also worth noting that despite the fact that termination of pregnancy is illegal in Uruguay, Quadrelli et al. (2007) report that 89% of pregnancies diagnosed with DS and 96% of pregnancies with more severe aneuploidy terminated. This case prompts the need to look at personal, cultural or societal factors and interaction of these factors with legal pressures that may affect parental decision-making processes, which will be discussed later in the paper.   2.3. Key Arguments for and against Introduction of Prenatal Testing 2.3.1. Key Arguments for Prenatal Testing  Several key arguments have been put forward in support of prenatal testing and selective abortion. Those arguments are justified on the three basic premises: prevention of “suffering” or “harm”, reproductive autonomy and cost-effective justice. The main argument set out by the influential bioethicist John Harris for preventing births of disabled neonates is grounded in the prevention of suffering, which he deemed morally desirable (Edwards, 2001). According to Edwards (2001), John Harris believes that if a woman has a reason to suspect that she might be at risk of carrying a fetus with a disability and she does not use prenatal testing, then she is morally culpable. Moreover, if a disability is identified, then a woman is morally responsible to terminate her pregnancy. He argues that it is unfair to bring people into the world who are more prone to suffer (Edwards, 2001). Edward represents Harris’ view: “One does wrong if one intentionally brings a child with a disability into the world. The wrong done in such cases is that of ‘deliberately choosing to increase the suffering of the world when one could have avoided so doing’. To give birth to a child with a disability is to inflict ‘needless suffering’. (Edwards, 2001, p.380).  According to Edwards, the fundamental assumption underlying Harris’s position is that an impairment is necessarily something bad or negative and the lives of the individuals with an impairment or disability are assumed to be less happy. Their quality of life, therefore, is less than of those with no impairment or disability. Selective abortion is a matter of “exercising choice in reproduction with the aim of producing children who will be either less damaged or diseased, or more healthy or who will have enhanced capacities” (Harris, 2001, p. 383).    This view is suggestive of eugenics, and indeed Harris notes that eugenics need not be understood pejoratively, but instead as a logical attempt to assure the “production of fine offspring” through abortion or positive genetic selection (Koch, 2001, p.371). In explaining 16  Harris’s view on the appearance of a physical difference, Koch (2001) comments: “If physical differences are defined as negatives, then a eugenic selection for normalcy makes sense.” (p.371). Qualifying his position, Harris (2001) states that for those who can only have children with disabilities, it is better for a woman to have disabled children than having no children at all. He admits:  Most disabilities fall far short of the high standard of awfulness required to judge a life to be not worth living. This is why I have consistently distinguished having moral reasons for avoiding producing new disabled individuals from enforcement, regulation or prevention of the birth of such individuals. (Harris, 2001, p. 386)  However, the question remains: does physical difference diminish the quality of life? Edwards (2001) has argued that Harris’s position is based on a necessary connection between disability or impairment and suffering. Hence, if one could demonstrate that the lives of some people with disabilities are not of a lower quality than those without disabilities who were born into similar settings, then Harris’s “suffering claim” must be false. Edwards (2001) concludes that the relationship between disability and suffering is neither a necessary nor sufficient claim. Another argument offered in favor of prenatal testing is that it supports prospective parents in exercising their reproductive autonomy. Edwards (2003) argues that if parental autonomy is to be respected, then there is a strong rationale for prenatal screening. If parents are provided information about the possibility that their unborn baby may be affected by a disabling condition, they can make an informed and rational decision about whether to terminate or continue with the pregnancy (Edwards, 2003).  Despite the importance of reproductive autonomy in society and particularly in genetics, given the conditions inherent in the testing process, it is worth questioning whether women’s decision-making can be considered free and fully informed (Seavilleklein, 2009). Clearly, in practice, there is a tension between the goals of enhancing reproductive choice and avoiding the births of children who would have disabilities. On the other hand, there is also potential for tension between autonomous and fully informed decisions. Because it is not just the quality of the information provided to and adequate understanding of pregnant women in the clinical context that matters in achieving free informed choice, but also the social, political and cultural 17  context in which parents are embedded may limit the extent to which women make autonomous decisions (Seavilleklein, 2009). I will discuss this later in more detail.  In addition to parental autonomy, prenatal testing is justified from the perspective of the state as an economic aim, based on the consideration that people with disabilities impose a financial burden on the state (Edwards, 2003). A number of studies that have performed cost-effectiveness analyses on DS screening programs are available (Ball et al., 2007; Biggio, Morris, Owen, & Stringer, 2004; Caughey, Kuppermann, Norton, & Washington, 2002; Gilbert et al., 2001; Harris, Washington, Nease, & Kuppermann, 2004; Obido, Stamilio, Nelson, Sehdev, & Macones, 2005; Vintzileos et al., 2000). These studies have yielded differing results, as each reported on different screening options and contained methodological differences. Nevertheless, the studies converged on the general economic benefit of decreased direct and indirect costs associated with supporting people with DS.  The supports examined included spending on medical care, education and other developmental services, as well as the indirect cost of decreased productivity through early death and disability. A study by Obido et al. (2005) compared and reported estimated costs for various available screening methods, which range from 27,603 USD to 54,789 USD per DS case averted. Meanwhile, the societal cost of raising and caring for an individual with DS has been estimated at $228,400 (in 2003 USD) (Harris et al., 2004) and $762,748 (in 2006 USD) (Ball et al., 2007). Considering the fact that there is no accurate, complete account of both savings and expenses associated with DS, all these cost-benefit analyses may have limited value.  An emphasis on shedding the costs of care for people with DS alongside the development of comparatively cheap, but profitable screening technologies gives another reason to expect a high rate of termination after diagnosis. If the decision to keep or terminate a pregnancy is conceived of as an economic cost-benefit analysis, then not to choose termination would appear unreasonable. Medical insurance companies may place financial responsibility on the individual by refusing to cover disability-related medical expenses, if women continue their pregnancies despite knowing about their child’s disability (Lawson & Pierson, 2007).  In response to these cost-benefit analyses, researchers have made the case for benefits to having children with DS that rival the costs incurred. Some of these benefits are tangible, but many are difficult to quantify and yet carry great social importance. A survey conducted by Skotko, Levine, and Goldstein (2011b) showed that parents of children with intellectual 18  disabilities reported having increased sensitivity, patience, tolerance, acceptance and valuing diversity. Moreover, siblings of children with DS gained a number of emotional advantages, such as understanding of differences and appreciation of human variation (Skotko, Levine, & Goldstein, 2011a). Another study by Urbano and Hodapp (2007) reported lower rates of divorce in families of children with DS than families of children who had other disabilities. Skotko (2007) listed statistically lower divorce rates and the financial savings associated with lower divorce – among the tangible benefit to having children with disabilities, compared to parents who do not have children with disabilities.   2.3.2. Key Arguments against Prenatal Testing and Selective Abortion  There is growing concern within the disability community that prenatal diagnosis and subsequent pregnancy termination is entering into general use without sufficient attention to its ethical and moral implications. If we compare today’s prenatal testing with previous eugenic efforts and the history of our society’s abusive treatment of people with disabilities, it is not difficult to understand concerns of some authors (Munger et al., 2007).  The central point of the arguments against prenatal testing is that much of the concept of disability is socially constructed. The utility of disability as a concept depends on the idea of normal function, since it implies a deviation from such normalcy.  Normal function, however, is construed differently by individual societies. Disability as a departure from a standard, therefore, depends less on the individual than on the society whose norms, conventions and biases set the standard up in the first place (Stainton, 2007). Even the United Nations’ definitions of impairment, disability and handicap explicitly recognize the possibility that the primary causes of a disabled person’s inability to do certain things may be social (Wendell, 1996, p.13). In light of the social construction of disability, disability rights critiques point out that prenatal diagnosis followed by selective abortion reinforces the medical model view that disability itself, not societal discrimination against people with disabilities, is the issue to be addressed (Parens & Asch, 2000). Thus, termination of fetuses affected by the same condition could be deemed a form of discrimination and prejudice against people with disabilities.  One of the key arguments against prenatal diagnosis and selective abortion, which has social construction at its foundation, is the expressivist argument. As Parens and Asch (2000) stated, the central claim of the expressivist argument is that the abortion, after identification of 19  fetuses with disability traits, expresses a hurtful attitude about, and ‘sends a hurtful message’ to existing persons with disabilities that they are unworthy of life or that they are inferior to abled people, as has occurred in the earlier eugenics era. This can only constitute and reinforce inequality and discriminatory attitudes toward people with disabilities. As explained by Wendell (1996), “the widespread use of selective abortion to reduce the number of people born with disabilities. . . .sends a message to children and adults with disabilities, especially people who have genetic or prenatal disabilities, that ‘we do not want any more like you’” (p. 153). Parens and Asch (2000) assert that if fetuses are eliminated due to individual traits, then those traits are being allowed to represent the person who would grow from that fetus. The disability-related traits obscure the person's potential and replace it with the stigmatized social image. Rather than conceiving of disability as an impairment, it can be understood to be a part of a person's identity, in the same way as ethnicity or gender. If we admit the key role of disability in identity, to eliminate a fetus based on disability-related traits would mean to discard a devalued identity, not a particular disease or disorder (Stainton, 2003). The second moral argument against prenatal testing concerns the parental attitude. This argument is based on the conception that a good parent should value and care for a child no matter what disability related traits she or he has. This case indicates that we need to be concerned much more about today’s parenting than about disabling traits in our children (Parens & Asch, 2003).   In spite of clashing views and values, there is one principal value that both pro-choice and pro-life groups agree on, which is that reproductive autonomy is the main premise underlying prenatal testing. However, given above-mentioned prevailing societal pressures and potential refusal of medical services or benefits for the disabled child, the decision to terminate a pregnancy of a child with DS may be considered as the “sensible” choice in the context of parents' lives, as described by Lawson and Pierson (2007). Therefore, disability activists argue that in these cases prenatal testing does not promote or protect women’s autonomy. True reproductive choice would only be possible if the parents' decision to continue their pregnancy would be supported.  Furthermore, many disability activists believe that prospective parents who use prenatal testing and choose to terminate because of disability might act on the basis of misinformation (Parens & Asch, 2003). Lack of information about the disability, and the lives of children with 20  disabilities and their families, is one of the reasons leading parents to decide on abortion. Given this, Parens and Asch (2003) emphasize the importance of the role of genetic professionals, as genetic counseling is often the first exposure women and their families have to receive a prenatal diagnosis of DS, and detailed information about the conditions. Thereby, the assumption is that they are supported to make truly informed decisions. This assumption, however, is disputed.   2.4. Mothers’ Experiences after a Prenatal Diagnosis of Down Syndrome  Receiving a diagnosis of DS is often perceived as the loss of a “perfect” baby and is typically an emotionally challenging experience for the expectant couples. This condition mostly begins with a shock, accompanied by a wide range of conflicting feelings and emotions, such as disbelief, confusion, anger, anxiety, guilt, grief and depression (Hickerton, Aitken, Hodgson, & Delatycki, 2012; Lalvani, 2008; Nelson Goff et al., 2013; Pueschel & Murphy, 1975; Skotko, 2006; Skotko, 2005a). Therefore, the first information that physicians convey and the manner in which it is presented play a critical role for adaptation to the diagnosis and subsequent decision-making (Sheets et al., 2011b).  As such, the US Prenatally and Postnatally Diagnosed Conditions Awareness Act (2008) was enacted to ensure the provision of comprehensive information and resources to patients who received prenatal or postnatal diagnosis of DS or other conditions that will expand women’s reproductive choice. So, this information support provided allow a pregnant woman and her family to determine an outcome that fits within their personal, cultural, religious, and social context (Prenatally and Postnatally Diagnosed Conditions Awareness Act, 2008). Genetic counseling is an integral component of this process.  2.4.1. The Role and Impact of Genetic and Other Forms of Counselling during the Pre and Post Diagnosis Phases  Since the inception of genetic counselling, there has been a long and complex relationship between the issues around disabilities and the practice of genetic counselling. The National Society of Genetic Counselors (NSGC) states that “genetic counselling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease” (NSGC 2006, p.77). To some extent, this explains how those who provide genetic counseling may serve as advocates for the disability community (Farrelly et 21  al., 2012). However, some authors question the simultaneous offers of prenatal testing and advocacy for individuals with disabling conditions and their families (Madeo, Biesecker, Brasington, Erby, & Peters, 2011; Parens & Asch, 2003).  With the expanded offer of prenatal screening and diagnostic testing, “facilitating informed decision-making related to which testing option is optimal for an individual patient has been acknowledged as a critical goal of clinical encounters such as genetic counseling sessions” (Hippman, Inglis, & Austin, 2012, p. 35). Therefore, in order to promote parents’ autonomous decision in the context of genetic counseling, the principle of nondirectiveness is advocated (van den Berg et al., 2007). The practice of non-directive genetic counseling only facilitates the decision making process, and does not aim at the decision outcome (Farrelly et al., 2012; van den Berg et al, 2007). Most commonly, women are referred by physicians to a genetic counselor following positive results of screening. But some women, due to the advanced maternal age or a previous family history of congenital disabilities1, are referred to a genetic counselor early in their pregnancy or even preceding pregnancy (Roberts et al., 2002).   In this context, the decision-making of the patient may involve active consideration of three choices: a) whether to have a screening test in order to find out risk information about the health of a fetus (where genetic counselors are not typically involved); b) if the result of a prenatal screening test is positive, whether to undergo further diagnostic procedures (usually amniocentesis) that increases the risk of miscarriage; and c) whether to terminate or continue a pregnancy when a fetal anomaly is diagnosed. (Hodgson & Weil, 2012, p.18)  The role of the genetic counselor, and particularly the principle of non-directiveness, is considered to be important at these two (b and c) levels of the decision-making process. Several                                                         1 When a woman has a family history of congenital problems, she may be referred to a genetic counselor – but the prenatal screening tests do not provide information about most conditions associated with congenital problems – screening tests look specifically at DS, trisomy 18, spina bifida and trisomy 13. Aside from spina bifida these are not things that typically run in families – they are usually spontaneous, denovo events. So for a family history of congenital disabilities, a visit to a genetic counselor is usually about whether they would want to know prenatally about the condition in the family and whether amnio can detect it. Women with AMA are not typically referred to a genetic counselor to discuss screening tests, they typically have the screening tests done by their family doctor or general practitioner, and when the results are “positive” get referred to a genetic counselor.  22  studies have raised questions about the extent to which the actual decisions of pregnant women to have prenatal testing can be considered autonomous and uninfluenced as well as how ways of framing the information contribute to optimal levels of informed choice (Farsides, Williams, & Alderson, 2004; Hunt, de Voogd, & Castaneda, 2005; Marteau & Dormandy, 2001; Williams, Alderson, & Farsides, 2002). Many have shown that women frequently have a significant lack of knowledge and misunderstanding about the differences between the screening tests and diagnostic options, as well as the conditions being tested (Bryant et al., 2001; Hodgson, Gillam, Sahhar, & Metcalfe, 2010; Marteau et al., 1988; Skotko, 2005c). Therefore, Skotko (2005c) recommends physicians explain the difference clearly, indicating that the results of prenatal screening will come as a risk assessment and not as a ‘positive’ or ‘negative’ result. Moreover, any woman’s life – her psychological and physical well-being - can be affected by prenatal diagnosis, a particularly grave concern if she receives knowledge that she did not request. Therefore, it is unethical for individuals not to be informed of the characteristics of the condition tested, characteristics of the test itself, as well as the implications and consequences of possible interventions, particularly ones that involve possibility of risks (Marteau & Dormandy, 2001).  Also, since NIPT/NIPD is simple, safe and risk-free procedure, it may become normalized (as a part of routine prenatal care) and offered without adequate counseling or explanation, which might undermine the informed consent and contribute to the emergence of ethical concerns (Hawkins et al., 2013). As explained above, in two-step testing process it is common to provide limited information to all women prior to prenatal screening whereas more detailed genetic counseling to the small subset of women with a positive screen result (Benn, Cuckle, & Pergament, 2012b). The idea behind the concern is the substitution of the invasive diagnostic procedures with NIPT (one-step character) using massively parallel sequencing (MPS) of maternal plasma, could be associated with modified patient referral practices that might decrease or abolish genetic counseling (de Jong et al., 2010; Benn et al., 2012b). On the other hand, it is also assumed that the provision of all necessary information at one step (that is commonly provided at two steps) might lead to an ‘information overload’, which could be the threat to informed decision-making (de Jong et al., 2010). However, in spite of the recent shifts in the prenatal testing, the importance of comprehensive genetic counseling (both pre- and post-NIPT genetic counseling) should not be undervalued and NIPT only increases the need for 23  genetic counseling; particularly in new testing paradigm without adequate counseling, patients can be harmed by misleading claims around NIPT (Benn et al., 2012b).  In light of these complexities and potential false positive results, professional groups such as the International Society of Prenatal Diagnosis and the National Society of Genetic Counselors have issued advisory statements recommending that NIPT/NIPD only be offered in the context of genetic counseling, informed consent and education, and those women who have a positive cffDNA test result should be provided the option of standard confirmatory invasive procedures including CVS and amniocentesis (ISDP position statement: Benn et al., 2012a; Devers, Ormond, Facio, & Brasington, 2012).  How effectively counseling standards are met also depends upon how disability is defined and how the relevant information is delivered and discussed (Hodgson & Weil, 2012). Several studies have demonstrated some negative experiences with genetic counseling, while some authors have expressed concerns that there is a huge gap between genetic knowledge and knowledge about life with disability (Helm et al, 1998; Madeo et al., 2011; Munger et al., 2007; Parens & Asch, 2003). One of the studies designed to learn the experiences of ten mothers who received a prenatal diagnosis of DS and chose to continue the pregnancy found negative attitudes or personal biases to individuals with disabilities (Helm et al., 1998). The study reported that almost more than half of the respondents did not feel supported by genetic counselors in their choice to continue with their pregnancy and even their decisions were questioned in negative and discouraging ways. One of the women interpreted her conversation with a genetic counselor this way:  The genetic counselor treated me as though I couldn’t accept this news, although I told her I could. She asked, ‘What are you going to say to people when they ask you how you could bring a child like this into the world’? (Helm et al., 1998, p.59)  One potential interpretation of this statement is that the genetic counselor is biased against individuals with disabilities and that she has limited knowledge of disability and lives of people with disabilities. The counselor's attitude indicates that social acceptance of DS is still marginal.   24  Farrelly et al. (2012) found that much of information given by most of genetic counselors centered around the physical (95%) and cognitive (87%) differences associated with DS, which were much more consistent with the medical model of disability, whereas only 26% discussed the social aspects of life. Even while assessing the quality of life issues, over half of the genetic counselors (63%) demonstrates very basic knowledge, saying that disabled children “learn to walk and talk like other children, albeit later than expected.” It displays disproportionate focus on medical or functionally impaired aspects of the condition rather than social or behavioral aspects of life for an individual with DS (Farrelly et al., 2012). Further, data from other studies are consistent with these results.  A study by Hodgson et al. (2010) explored 21 prenatal genetic counseling sessions (counseling interactions) in Australia (where all pregnant women were offered a diagnostic test upon receipt of an abnormal maternal serum screening (MSS) results). The study revealed a narrow description of DS, with a particular focus on the negative aspects of the condition (physical appearance and the likely “burden”) and without any discussion of the potential place of an individual with DS in family life (Hodgson et al., 2010).  Another study, conducted by Roberts et al. (2002) with 69 women who received prenatal genetic counseling by four genetic counselors after prenatal screening, discovered that 87% of the women indicated that they were not given information about future-quality-of-life issues for a child with disability. 83% did not feel that they were provided a balanced view of what it would be like to raise a child with a disability. Although the information given by genetic counselors is likely accurate, it does not present a balanced view of both positive and negative aspects of the condition, which is inadequate for informed consent. Emphasizing on differences between prenatal and postnatal genetic counseling, Sheets et al. (2011a) indicates that prenatal information includes more medical information and negative aspects of the diagnosis, whereas postnatal information contains more balanced view of positive and negative aspects. The discussion of informational resources and referrals and the provision of printed materials were also absent in the genetic counseling sessions. A study of Spanish mothers who continued a pregnancy with a prenatally diagnosed fetus with DS indicated that physicians delivered a diagnosis to them without any adequate information about DS and offered no printed materials or referrals to parents who already had children with DS (Skotko & Bedia, 2006). In a survey of 141 mothers who received a prenatal diagnosis of DS, most mothers also reported they 25  were not provided information about DS after the screening test (Skotko, 2005c). Roberts et al. (2002) also found that 60.9% of women’s intention to terminate was associated with women’s knowledge about disability services. Women who had more information about resources for those with disabilities were more likely continue their pregnancy. Although it is not possible to determine a causal relationship between knowledge and decisions, with such knowledge prospective parents may be equipped to make a better-informed decision. Similar conclusions were reached in other studies of genetic counseling practices pertaining to the prenatal testing (e.g., Hodgson et al., 2010; Wertz, 1998). It may usually be assumed that a woman who inquires about prenatal screening or diagnosing would want to terminate an affected pregnancy and convey a belief that this is the most rational choice; therefore, genetic counselors sometimes fail to discuss all available options or resources. However, decisions about prenatal testing are very complex, individual and contextual process. The results of a study by Skotko (2005c) demonstrated that this is not case for all pregnant women. Women who agreed to undergo prenatal screening or diagnosis did not necessarily intend to terminate; they just wanted certainty and reassurance about the health status of the baby and get prepared appropriately for the birth of their babies in case a diagnosis was made. van den Berg, Timmermans, Ten Kate, van Vugt, & van der Wal (2005) also confirmed that the primary reason of half of the respondents to use prenatal screening was to know the health status of the fetus. Another study by Farrelly et al. (2012) found that most genetic counselors discussed termination (86%), while fewer mentioned the continuation of the pregnancy (37%) or adoption (13%).   However, in the transcripts, genetic counselors gave various reasons a client might choose to undergo prenatal testing. These included preparation (69%) if a diagnosis was made and reassurance (41%) about the health of the baby. Some (26%) also stated that prenatal testing might be helpful in reducing anxiety about the pregnancy. (Farrelly et al., 2012, p. 4)  Given this, it is suggested that if a pregnancy is diagnosed with a disability, the genetic counselor should discuss all available options to achieve autonomous decision-making. Another issue that might affect mothers' decisions is the narrow timeline after diagnostic testing, within 26  which women feel being rushed to make such a difficult decision within a brief timeframe (the pregnancy is often already in its 19th or 20th week) (Skotko, 2005c; Sooben, 2010; Tymstra, Bosboom & Bouman, 2004). This might reflect the fact that abortion was anticipated by health professionals to be a more ‘natural’ outcome if DS was detected. One parent commented:  this is not a decision that you have to make every day of your life and I think health professionals could have been a bit more diplomatic, better trained in how to deal with that emotionally. I think to decide what to do does take time and to have an abortion at that stage which was 23 weeks is pretty horrible really. (Sooben, 2010, p. 85)   This issue also might have stemmed from delaying information about specific disabilities and available community resources. Because most genetic counselors do not routinely discuss information about specific disabilities, including quality-life-issues at earlier stages, until diagnostic test results are made, women are pressured later to gain a large amounts of knowledge and make an informed choice in such a short time (Roberts et al., 2002). Thus, it is recommended that general information about DS should be provided early in the pre-screening process (Roberts et al., 2002; Skotko, 2005c; Williams et al., 2002). To some extent, all this evidence indicates a poor quality of information given to prospective parents, which might be one of the factors influencing women’s intentions to terminate.  That said, there are also many genetic counselors and physicians who are committed to acting in accordance with principles of informed consent and nondirectiveness. “Many of them share the concerns voiced by the disability rights critique” (Parens & Asch, 2003, p.41). One example is a genetic counseling program at the New England Medical Center that addresses this concern of misinformation with a programmatic approach. When women whose fetuses are diagnosed with DS are referred to genetic professionals, the main part of genetic counseling involves introducing the pregnant woman and her partner to families who have a child with DS.   It is reported that 62 percent of women in this program who carry a fetus with Down’s syndrome decide to have abortions—a relatively low rate after a positive diagnosis. Based on such facts, advocates for persons with disabilities suggest that when prospective parents are provided with more accurate information about what life with disability is 27  like, they may realize that parenting a child with a disability can be as rewarding as parenting a child who does not. (Parens & Asch, 2003, p.41)  In this regards, Farrelly et al. (2012) reported that few genetic counselors offered additional resources, such as an opportunity to talk to families who have children with disabilities (11%) or giving a website or leaflet with more information (12%). Almost one quarter of genetic counselors (22%) informed of government services that provide assistance to families that have children with disabilities.  Contact with families raising a child with DS has been suggested in some other studies as well (Helm et al., 1998; Sheets et al., 2011a; Skotko et al., 2009b). Although it is one of the necessary actions to help parents get an insight into the experiences of these families, as well as promote parents’ informed choice, Hippman et al. (2012) suggest counselors need to consider potential negative consequences of such connections and discuss with the family of a child with DS how it might affect them if after meeting the expectant mother decide to terminate her pregnancy with DS. Also, it may not be appropriate to connect a couple with a family who has a child with DS if they had already made autonomous (most probably, emotional) decision to end their pregnancy. This situation provides an additional reason for potential tension between autonomous and informed decisions. Another important issue that emerged consistently in afore-mentioned discussions was the importance of provision of the expectant parents with adequate and balanced information in order to make informed decision. Although conveying a “balanced” view of DS is frequently recommended (Helm et al., 1998; Skotko, 2005c; Skotko et al., 2009b), few studies attempted to define balanced information about DS (Bryant et al., 2001; Sheets et al., 2011a; Williams et al., 2002).  With regards to balanced description of DS, one of the studies by Hippman et al. (2012) explored the perspectives of parents of children with DS to better understand the information parents consider important and to establish general guidance. Given the variety of perspectives and experiences, Hippman et al. (2012) argued that it is impossible for “any single description to be perceived by everyone as ‘balanced’”. (p.43). Therefore, they suggested that rather than striving for this unattainable ideal of a set of information that everyone would perceive as being “balanced”, it is important to acknowledge that people’s perception of “balance” is colored by 28  their unique experience. Parents want to know what their life might look like with a child with DS. But with all the best empirical evidence, it is impossible to foretell the experience of a particular individual or family. Therefore, Hippman et al. (2012) suggests that it is essential to provide current and up-to-date information, which includes both negative aspects with a focus on clinical information and positive aspect related to social aspects of like including educational expectations and treatments/services, but also presenting information in a non-judgmental and supportive manner.  Brasington (2007) also recommended genetic counselors discuss the similarities between children with DS and children without DS, which will help families focus on “what their child CAN do, not what they cannot” (p.732). In another study by Sheets et al. (2011a), over 96 % parents (out of 687 respondents) identified that the discussion about how “children with DS are more like other children than different” should be an essential topic to be covered in the initial discussion of a diagnosis of DS.  In addition, in order to help families appraise the likelihood of these outcomes for themselves, it is important that they are provided an opportunity to explore their own experiences, goals, moral values, desires, concerns, fears, and thoughts and coping strategies, which are in fact influencing factors to their decision-making process (Hippman et al., 2012; Parens & Asch, 2003). When properly executed, genetic counseling has the potential to endow parents with greater information about raising children with disabilities. Such parents have been shown to be less prone to terminate fetuses with DS markers. To be properly informed, however, education and practice must not be limited only to biomedical information.  It must include the perspectives of disability rights advocates, parent communities, and a socially comprehensive model of disability. However, it is worth mentioning that it is not just the quality of the information provided to and adequate understanding of pregnant women in the clinical context that matters in achieving free informed choice, but there are multiple determinants that might affect parental decision making, which will be reviewed and examined below.    29  2.4.2. Mothers’ Decision-Making after Prenatal Diagnosis of Down Syndrome    One key decisional process is the set of decisions parents must make following the unfavorable result of the diagnostic test. As no therapeutic interventions are offered for most conditions diagnosed by prenatal testing (Lawson & Pierson, 2007), parents are confronted with having to make a difficult decision – terminate pregnancy or continue pregnancy. Until now the existing literature has studied twenty-six factors that may affect pregnancy management decisions following a prenatal diagnosis of DS (Reed & Berrier, 2017). Some of the existing research about decision making were based on hypothetical situations (Bell & Stoneman 2000; Bryant et al. 2005; Lawson 2006; Lawson and Walls-Ingram 2010; Leung et al. 2004; Roberts et al. 2002), whereas others are actual studies concerning populations who made a decision after a prenatal diagnosis (Britt et al. 2000; Korenromp et al. 2007; Perry, Woodall, & Pressman, 2007; Quadrelli et al. 2007; Zlotogora, 2002). These studies suggest that the parental choice-making process might be based on a number of determinants, many interrelated, which include demographic aspects such as religion, socio-economic status, ethnicity, age, and other psychosocial factors.  Several studies suggested the religious background as a potential component in parental decision-making, meaning that parents with strong religious beliefs were less likely to terminate pregnancy (Bell & Stoneman, 2000; Bryant et al., 2005; Helm et al. 1998; Hurford et al., 2013; Leung et al, 2004; Skotko, 2005c). Hurford et al. (2013) identified moral (59%) and religious/spiritual beliefs (47%) as having the greatest impact on women’s decision to continue their pregnancy. One of the studies by Skotko (2005c), which specifically examined women’s decisions to continue a pregnancy after receiving a prenatal diagnosis of DS, indicates that most women chose to continue a pregnancy for religious or personal reasons; however, the study did not explain what specific personal reasons influenced their decision. Bell and Stoneman (2000) found out that respondents who attend church less than once a week were more likely to consider terminating a pregnancy. Leung et al. (2004) also identified the religious background as a significant factor for a negative attitude towards termination of pregnancy. Studies show that termination is most likely to be used by Whites who have a relatively higher economic status (with an income over $50,000) and education levels (at least a college level degree) (Korenromp et al., 2007; Robert et al, 2002). This might indicate the fact that educated parents were more likely to be aware of expansion of prenatal screening services.  30  In terms of maternal race/ethnicity, a US study conducted by Jackson et al. (2014) revealed that maternal race–ethnicity was associated with both the utilization of prenatal cytogenetic testing and termination of a pregnancy after diagnosis of a birth defect. Compared with non-Hispanic white mothers, Hispanic mothers utilized prenatal cytogenetic testing significantly less frequently (odds ratio 0.66, 95% CI 0.56–0.78). Further, they also report that in pregnancies affected by DS, both non-Hispanic black and Hispanic populations had more live births (89.5% and 77.8%, respectively) and lower selective abortion (5.7% and 15.2%, respectively) compared to the non-Hispanic white population (63.0% live births, 32.3% selective abortion) (Jackson et al., 2013). Selective termination rate was found significantly lower in Filipina groups (55%), followed by Hispanic groups (76% respectively) (Hawkins et al., 2013). Similar finding was also reported by Shaffer et al.(2006) within Hispanic patients living in the Unites States. Previous reports have demonstrated conflicting results regarding the association of advanced maternal age with the decision to continue or terminate an affected pregnancy. Some studies (Bryant et al., 2005; Shaffer et al., 2006) found that women aged 35 and older women were significantly more likely to terminate an affected pregnancy, whereas Hamamy and Dahoun (2003), Hawkins et al. (2013) and Perry et al. (2007) did not find this association significant. Another study that focused on all fetal anomalies also suggested that older women were more likely to terminate a pregnancy in cases where serious fetal anomalies were identified (Schechtman, Gray, Baty, & Rothman, 2002). In a study by Reed and Berrier (2017) that conducted expansive cognitive interviews with nine former patients who received a prenatal diagnosis of DS, parental age was reported as a reason to continue the pregnancy, whereas two others represented their ages as obstacles to parenting.  Other factors that may influence the decision to terminate or continue a pregnancy include gestational age, the presence of an ultrasound anomaly, prior history of termination and existing children. While some studies (Pryde, Drugan, Johnson, Isada, & Evans, 1993; Shaffer et al., 2006) suggested a greater likelihood to abort early in gestation, other studies found no association between gestational age at the time of the procedure and the decision to terminate (Kramer et al., 1998; Hawkins et al., 2013).  Many studies found that the presence of an abnormality on ultrasound examination influenced the decision to terminate (Hamamy & Dahoun, 2003; Mezei et al., 2004; Perry et al., 31  2007; Schechtman et al, 2002). However, Hawkins et al. (2013) and Shaffer et al. (2006) did not report any significant association between the type of diagnosis procedures (neither CVS nor amniocentesis) and the likelihood to terminate. Given this, it was suggested that increased identification by cffDNA screening may not necessarily contribute to an increase in induced abortion. They also reported that women with prior history of termination are more likely to terminate for any chromosome abnormality (Hawkins et al., 2013). Leung et al. (2004) found the women who had no prior history of termination were less likely to consider termination of pregnancy for DS after 24 weeks fetal abnormalities diagnosed. Further, Hamamy and Dahoun (2003) reported a higher contribution of previous children as an indication for higher termination rate among couples.  Using qualitative comparative analysis, Britt et al. (2000) looked at how the combinations of multiple factors such as maternal age, gestational age, prior voluntary abortion history and existing children may influence the chances that a decision is made to terminate a pregnancy. They suggest that no single factor stands out in the decision-making process independent of the others, but rather, termination decisions are influenced more by the decision contexts driven from differing combinations of factors (Britt et al., 2000). A number of additional psychosocial considerations that might influence decision-making are, a low quality of life, perceived burdens, and social support. The expectation of a “Low quality of life” for the child has often been cited as one reason that affects the decision to terminate a pregnancy (Bell & Stoneman, 2000; Cohen, 1986; Korenromp et al., 2007). A survey by Korenromp et al. (2007) conducted with 71 women in the Netherlands revealed that motivations for termination following a prenatal diagnosis of DS were based on parents' lack of understanding of a child with DS. Parents cited his or her “ability to function independently”, “severe abnormality” and “burden for the child itself”, “care of the child after my death”, “uncertainty about the consequences of abnormality”, and “low respect for children with disabilities in our society.” In each of the cases, 45% to 92% of women were in agreement. The aforementioned reasons given by parents may suggest that parents are not provided with accurate and unbiased information about disability upon receiving a diagnostic result. Also, it shows emotional reactions of parents framed by the entrenched cultural assumptions and prevailing unfavorable societal attitudes towards persons with disabilities in general, and towards raising a child with a disability.  32  Another consistent predictor of attitudes towards the use of prenatal testing and termination was perceived burden of caring for a child with a disabling condition. As discussed above, in the study by Roberts et al. (2002) where 60.9% of women who received a positive result of diagnosis stated they would terminate a pregnancy, the perceived stress of caring for a child with a disability contributed to their decision. Similar reasons were found in a study by Korenromp et al. (2007) where respondents provided the following concerns as reasons: “burden for other children” (73%), “for self” (64%), “for their relationship” (55%), “not wanting a child with disability” (63%) and “unhappiness of having a child with disability” (61%). All these psychosocial factors given by parents once again may partly reflect the nature and type of information provided by health care professionals as well as social-political forces.  If we evaluate influencing factors beyond individual level in decision making, we can see that usually women make decisions together with people in their social sphere who are important to them, such as partners/spouses, friends, family. In a study by Korenromp et al. (2007), 74% of respondents reported that their decision regarding termination was influenced by contact with partners, 37% reported their contact with their family/friends as an influencing factor, and 45% cited contact with a religious counselor. Women report being influenced by contact with health care providers, including geneticists, obstetricians, family doctors, and midwives (ranging between 18%-42%) as well. Due to the nature of their work, medical caregivers are among the most important who are not only in a position to deliver information but also to influence decisions. Their approach to this issue stems from their own assumptions, attitudes, and values that might hinder or increase parents’ reproductive autonomy (Lawson & Pierson, 2007). Studies also showed correlation between social support and the decision-making process (Lawson, 2006, Robert et al., 2002). The respondents who anticipated more social support for parenting a child with a disability indicated a lower willingness to consider abortion. Additionally, knowledge about available disability-related resources appeared to be more important elements than knowledge of disability in women’s decisions to continue with their pregnancy (Robert et al., 2002). These findings suggest that the social setting is critical in decision-making and pregnant women require support from those close to them (physicians, partner, service providers) in their social environment.  Women who experience such support will also experience greater autonomy as they make decisions, which indicates that focusing on the need for social support can also address the need for autonomy (Lawson & Pierson, 2007). 33  All these arguments suggest that the women’s perceptions of parenting a child with DS are framed within the contexts, which are in turn determined by the sociocultural constructions of disability and normality as well as the biological nature of the disability (Lalvani, 2008).   2.4.3. Mothers’ Adjustment Process  Generally the expected birth of a new child initiates a process of adaptation as the family prepares for life after the child is born. Typical parents anticipate the birth of a healthy child and make plans on the basis of this assumption. When this does not happen, it might change parents’ expectations of parenthood as well as their standards of normalcy (Lalvani, 2008) and a different process of prenatal adaptation might proceed (Barr & Millar, 2003). ‘Traditional’ research on family experiences of raising a child with an intellectual disability have focused on negative effects, such as increased stress, depression, burden, marital instability, employment problems, and extra time and effort required to care for a child with disability (Damrosch & Perry, 1989; Shearn & Todd, 2000; Wikler, Wasow, & Hatfield, 1981). One of the sources of high level stress that families of children with DS experience includes concerns about health, developmental, and educational needs of their children (Baker et al., 2003; Hedov, Anneren, & Wikblad, 2002). Children’s maladaptive behaviors are related to the stress level of mothers as well (Hodapp, Ricci, Ly, & Fidler, 2003). However, mothers of children with DS experience lower level of child-related stress and cope slightly better than those who have children with other intellectual disabilities - a phenomenon called the ‘‘Down syndrome advantage” (Hodapp, 2007; Hodapp et al., 2003).   Since the late 1980s, the focus of research has been shifting to more positive outcomes of families' adjustment (Ferguson, Gartner, & Lipsky, 2000; Hodapp, 2007; Van Riper, 2007). Some of the studies examining parental adjustment found that although parents initially experience negative outcomes, the adjustment process improves in time, and parental experiences elicited increased positive outcomes. While many parents accepted the birth of their child with DS as a tragedy initially, their opinions changed gradually (Flaherty & Glidden, 2000). This shows that the experiences of parents of children with disabilities are not predominately of pain and suffering, but that they also experience joy and happiness. Such parents face greater challenges in terms of finance, time and extra effort to care for their child, as well as stigma associated with disabilities. However, families reported that along with the 34  challenges they faced, they had many rewarding experiences and were benefitted by bringing the social unit closer together, learning the true meaning of unconditional love and appreciating diversity (Hornby, 1992; Van Riper, 1999). Similar positive consequences were mentioned as part of family experiences in a study by Skotko et al. (2011b), where parents reported that their views and important values in life changed, and they learned to appreciate and respect people’s differences. While some families are able to adapt quite successfully, others are not. Given this difference in families’ response to changes, Van Riper (2007) examined resiliency in families and found that the three main variables affecting adaptation in families of children with DS are family demands, family resources, and family problem-solving communication. Taanila, Syrjala, Kokkonen, and Jarvelin (2002) identified social support as one of the main reasons responsible for differences between high and low coping families.  Contact with sources of support, information and treatment have been shown to contribute to parents’ emotional recovery, and successful parental coping at the initial phase (Muggli, Collins, & Marraffa, 2009; Taanila et al., 2002). But parents will go through many stages of reactions and adaptation as they raise their child. During the post-natal adjustment process, uncertainty was found to be a major characteristic of the life transition experienced by parents (Van Riper, 1999). “The uncertainty mainly stemmed from (a) the unexpected diagnosis of DS, (b) parental concern about the future, (c) self-doubt about parenting skills, and (d) the initial responses of professionals” (Van Riper, 1999).  Review findings also showed differences between the adjustment experiences of parents who received diagnoses prenatally and postnatally. Some parents in the research by Van Riper (1999) indicated that they were able to celebrate the child’s birth, because they were aware of their child’s diagnosis of DS prenatally and they already had time to grieve the loss of the “expected child” (Van Riper, 1999). Skotko (2005c) also found that mothers who became aware of the prenatal diagnosis appear to be happier with the birth of their child than those who received the diagnosis postnatally. This pattern can be attributed to the fact that earlier knowledge of the diagnosis results would allow mothers more time for more education, acceptance of the condition, and preparation for the birth (Skotko, 2005c). The findings make us aware of the gaps that exist in our current understanding and knowledge about experiences of mothers’ prenatal adjustment. 35  While the majority of studies have focused on parents’ postnatal support and adjustment process, little is currently known in the professional literature about the prenatal adjustment process of parents in Canada. Available studies mainly investigated parents' experiences with health care providers as a potential significant step for the process of adjustment to their child’s condition (Helm et al., 1998; Skotko, 2005c).  Given how little is known about prenatal adjustment, it would be useful to explore the experiences of mothers who receive positive results of a prenatal diagnosis. It would be beneficial to know how decisions to continue pregnancy are made, how prenatal adjustment evolves over time, what it is like for mothers to prepare for the birth of the child and what services help parents’ process of adaptation and preparation for the birth of their child. Concerns surrounding the prenatal adjustment process might include grieving the loss of an “expected” child, the parents' psychological well being, addressing specific needs of being as a primary caregiver, the impact of parenthood on different areas of family life (marital relationship, siblings, relatives), maintaining a family unit, coping strategies and support networks utilized, accessibility and availability of resources, acceptance and hope.  Given the many gaps in current knowledge, it is important to gain a better understanding of the lived experiences of women who have decided to continue with their pregnancy after receiving a diagnosis of DS, as well as the experiences of their partners and families. The insight gained through such study will provide professionals (healthcare providers, social workers) with greater resources to adapt their actions and develop appropriate interventions in order to increase effective support for parents, which will in turn contribute to parents’ process of adaptation. Such research would be a useful resource for future parents who may undergo similar experiences, as they move through the process of making informed, supported decisions.   2.5. Conceptualization, Definitions and Models of Disability  This section deals with the conceptualizations, definitions and responses to disability within religious, medical, social, identity (affirmation) and cultural contexts. The difference between conceptualization of the disabled body as a social construct and as a medical problem is examined.   36  2.5.1. Introduction  Disability is a significant social phenomenon in a variety of ways (Titchkosky, 2003). It has been “at the intersection between the particular demands of a given impairment, society’s interpretation of that impairment, and the larger political and economic context of disability” (Braddock & Parish, 2001, p.11). Given the fact that disability is a multidimensional concept, it is impossible to determine a global definition of disability, which conforms to all circumstances (Altman, 2001), or to achieve a single “operational” definition across various federal programs (Office for Disability Issues, 2003, p.47). Physical and mental differences have always existed in society. Some people are born with impairment and experience disablement from childhood, whereas others might face it later in life (Albrecht, Seelman, & Bury, 2001). Societal reactions to these differences have, however, changed over time. As society develops, modern technology advances, new knowledge emerges, and new interventions are being developed to cure or eliminate impairment.  As a result of the Human Genome Project, prenatal testing is now offered to detect over 1,200 conditions. DS is the most prevalent and most commonly screened among intellectual disabilities, with selective abortion a commonly anticipated outcome (Munger et al., 2007). The connection between genetics and intellectual disability has been established in American public policy since the eugenics efforts of the early 1900s (Munger et al., 2007, p. 121). Given the history of our society’s abusive treatment of people with disabilities during the eugenics movement, today prenatal testing causes tensions between medical and social advocacy groups, which hold different perspectives about disability.   In fact, the modern conceptualization of disability was developed with the start of eugenics (Withers, 2012). Although the eugenics model of disability does not exist any longer, eugenic ideas continue to exert influence on views of disability today and on what our society considers to be “normal” and “abnormal” (Davis, 2006). Keeping this not-so-distant past in mind, we can understand how disability concepts have continued to evolve through different conceptual models and perspectives, as well as the rising tensions between them. There are a number of different conceptualizations of disability. Disability can be conceptualized through the religious, medical, social, identity (affirmation) and socio-cultural models that are dominant within Western societies. Each of these models provides a lens for exploring the situated nature and meaning of disability at certain times. All these 37  models will be carefully examined to understand how they inform the definition and construction of disability, and in what contexts they influence the practice of prenatal testing (PT).  2.5.2. Definitions and Models of Disability 2.5.2.1. The Traditional/Moral/Religious Model   The moral/religious model is historically the oldest model for understanding disability and is found in a number of religious traditions or societies (Niemann, 2005; Pardeck & Murphy, 2012; Rimmerman, 2013). This model views disability as a punishment inflicted upon an individual by God or a higher power for a sin or misdemeanors committed by the person with disability or their parents and/or ancestors (Rimmerman, 2013). It has been construed to be a curse, often associated with a sense of shame onto the individual or family (Niemann, 2005). This has resulted in negative outcomes for the individual with disability along with his or her family, leading to the concealment and social exclusion of individuals with disability or even their entire family (Rimmerman, 2013). Another view within the moral/religious model in understanding disability is to perceive it as a test of faith or strength. The conception of disability as a test of faith is described by Niemann (2005) as a state where “individuals and families are specially selected by God to receive a disability and are given the opportunity to redeem themselves through their endurance, resilience, and piety” (p.106). Similarly, Black (1996) explained an additional form of this model, which presents the challenges associated with disability as a God-given opportunity for the development of particular character traits (such as patience, courage, and perseverance). Such people were often perceived as being “blessed” as they have been given the opportunity to learn certain life lessons that able-bodied people only rarely get to experience.  An alternate view describes people with disabilities2 as needy and helpless (Brzuzy, 1997) and as innocent victims of their tragedy (Withers, 2012). Although the moral/religious model is outdated and less prevalent today, the basic concepts of this model are still frequently found in the way that people reason, interpret and make sense of an event when faced with                                                         2 In this paper, terms “disabled people” and “people with disabilities” are used interchangeably. In Britain, the preferred term is “disabled people”, meaning that people with impairments are disabled by an exclusionary society. The American term ‘people with disabilities’ may put the individual first, but it still defines them by their impairment. 38  illness or disability (Rimmerman, 2013). Moreover, there are certain societies or cultures where this model is still prevalent, especially those guided by religious doctrine. In such societies, individuals with disabilities are severely marginalized, resulting in the possibility of abandonment or infanticide (Retief & Letsosa, 2018).   2.5.2.2. The Medical Model of Disability    The dominant way of understanding disability in Western societies has been the medical model, which superceded the moral/religious viewpoint from the mid-1800s onwards as a result of major advances in the medical science (Retief & Letsosa, 2018). This model views disability as a functional limitation, as “pathology”, “dysfunction”, “deficit” or “deviance” (Barnes & Mercer, 2003; Brzuzy, 1997; Finkelstein, 1991; Linton, 1998). Oliver (1996) emphasized the two fundamental points underlying the medical model of disability. Firstly, the medical model locates the “problem” of disability within the individual. Secondly, disability stems from the “functional limitations or psychological losses, which are assumed to arise from disability” (Oliver, 1996, p.32). As Oliver would likely classify the eugenic, medical and charity models together, he refers to the medical model as an individual model for which medicalization is a significant element (cited in Withers, 2012).  According to Linton (1998), "The medicalization of disability casts human variation as deviance from the norm”, where there the norm is valued positively and deviance is undesirable, and tends to regard disability as “a personal tragedy” (p.11). Furthermore, Linton (1998) argues that through assigning negative medical meanings such as “abnormal”, “defective” and “pathological” to disability, society colludes to keep the issue "within the purview of the medical establishment", and that individualizing disability stresses the need for treating the individual with the condition rather than "the social processes and policies” that constrain the lives of disabled peoples (1998, p.11). It is assumed that the one who needs to change is the disabled person, because society is fixed and cannot change. The emphasis is placed upon correction and adaptation of the disabled person to society in order for her or him to be able to function in the society (Llewellyn & Hogan, 2000). This shows how the medical model plays a crucial role in invalidating bodies that do not act in accordance with societal standards.   39  Biomedical Definitions of Disability   The World Health Organization’s International Classification of Impairments, Disabilities and Handicaps (ICIDH) developed by Philip Wood, Elizabeth Bradley and Mike Bury (Wood, 1980), is emblematic of the medical approach. The ICIDH was developed as a tool to assess the effectiveness of health care processes (Gray & Hendershot, 2000). It is one of the most widely accepted definitional schemas contributing to the medicalization of disability.  In the ICIDH, the terms impairment, disability and handicap are defined and made distinct:   Impairment: In the context of health experience, an impairment is any loss or abnormality of psychological, physiological, or anatomical structure or function. Disability: In the context of health experience, a disability is any restriction or lack (resulting from an impairment) of ability to perform an activity in the manner or within the range considered normal for a human being. Handicap: In the context of health experience, a handicap is a disadvantage for a given individual, resulting from an impairment or a disability, that limits or prevents the fulfillment of a role that is normal (depending on age, sex, and social and cultural factors) for that individual. (Wood, 1980, pp.27-29)  The WHO schema’s three concepts of impairment, disability and especially handicap have been criticized for a variety of reasons. First, while the World Health Organization makes an explicit distinction between these three components, the medical model typically uses disability and handicap as interchangeable concepts (Brzuzy, 1997). Proponents of the social model, a competing explanatory model of disability that will be discussed later, have opposed the ICIDH on the basis of its grounding in the medicalization of disability as individual pathology (Oliver 1990; Pfeiffer, 2001). It posits that impairment causes both disability and handicap. The term “handicap”, furthermore, does not adequately center the problems of disability in social arrangements and practices (Barnes & Mercer, 2003; Thomas, 2002).  40  Second, the ICIDH schema is primarily based on medical definitions and uses a bio-physiological definition of normality. It ignores social factors in determining the distinction between “normal” and “pathological” when it comes to the shapes and weights of bodies, mental or emotional distress, and cognitive capability. Such a definition of handicap does not account for social and cultural relativity (Barnes & Mercer, 2003).  Third, ICIDH does not pay attention to the role of environment and disregards how the marginalization of people with impairments is reinforced through economic, cultural and social barriers (Barnes & Mercer, 2003). Instead, its individual orientation places the main responsibility solely on the person with the disability for his/her adjustment, coping and integration into society (Barnes & Mercer, 2003; Oliver, 1990).  In light of criticisms toward the ICIDH, the World Health Organization has issued a revision in the form of the ICIDH-2 (Barnes & Mercer, 2003; Gray and Hendershot, 2000; Pfeiffer, 1998). The ICIDH-2 (International Classification of Functioning, Disability and Health) has been altered to include social and medical approaches to disability in its “bio-psychosocial” framework. It still keeps the concept of impairment, which means loss or abnormality of psychological, physiological or anatomical structure or function, but replaces disability with activities and handicap with participation.  The ICIDH-2 differs from the original ICIDH in its use of language as negative terms were removed (Pfeiffer, 1998; Thomas, 2002). Also, the ICIDH 2 assumes that functioning, activity, and participation are mediated by environmental factors, both material and social (Barnes & Mercer, 2003). It offers new possibilities for socio-medical analysis, but it still keeps the individualistic medical notion of disability in its three-tier “impairment-disability-handicap” structure (Barnes and Mercer, 2003; Thomas, 2002), which reflects class and norms based evaluation.   Repercussions of the Medical Model  Based on the concept of normality, the medical framework thus serves as a gatekeeper, enforcing a normative boundary by assessing people with disabilities on their impairments and determining who is inside the norm, and who is “disabled” and needs to be cured or excluded (Oliver & Sapey, 2006). This suggests that when the medical model's impetus to cure cannot be fulfilled, the recourse is to transform the condition into a hazard, to be avoided whenever 41  possible (Shakespeare, 1999). Currently, the prevalent position on DS and other intellectual disabilities in Western society corresponds with the medical model. This view motivates the ongoing development and widespread use of prenatal testing (PT) for the condition (Bryant, Green & Hewison, 2006). Thus, today it is considered to be important to offer women PT as a part of routine prenatal care. While the aim of prenatal testing (PT) is to enable expectant parents to make an informed choice, there may also be an underlying societal expectation that women will terminate pregnancy if a fetal anomaly is identified. This means that today, many other impairments can be detected prenatally and similarly prevented (Morris, 1996). A fundamental assumption within the medical model is that higher levels of disability correspond with a lower quality of life. According to Adrienne Asch, the core of the medical model's view of disability is that “disability must be prevented, because disabled people cannot function within existing society.” (cited in Saxton, 2000, p.149). The application of prenatal testing is grounded in the prevention of the impairment. The main reason behind this aim of preventing impairment is the prevention of suffering (Edwards, 2001). This way that “suffering” is utilized within the rationale behind PT indicates that the notion of suffering involves not only various levels of disability and distress associated with a particular medical condition, but also the psychological impact and social reaction to that impairment for both the potential child and the parent. It is also argued that the notion of suffering involves the impact and financial and emotional burden of impairment on society (Morris, 1996).  These factors help explain why DS is one of the most common conditions for which PT is offered. DS usually involves some degree of intellectual disability. The existence of an additional chromosome can lead to physical differences such as shortened stature, an extra fold of skin around the eyes, small facial features, and pronated feet. It can also lead to medical concerns that vary from person to person but include heart defects, hearing deficits, as well as a heightened risk of childhood leukemia, hyperthyroidism, and celiac disease (Iannone & Meredith, 2010). If we examine parental reaction to PT and their decision-making process at the medical/individual level, it is reasonable to expect that their perceptions of having a child with DS, in terms of disability characteristics and potential impact on the family, may influence women’s decision-making process upon diagnosis. 42  Pfeiffer (1998) argues that the key reason why the medical model is not adequate for the study of disability is that it places a person with an impairment in the “sick role”, where others may make decisive judgments about the quality of that individual’s life. The “sick role” approach neglects to take into consideration the distinction between impairment and sickness. As Llewellyn, Agu, and Mercer (2008) state, “Many disabled people are not sick, but have ongoing impairments that do not present as daily health problems.” (p.256)  With heavy reliance on the preconceived idea of a good life, the medical model attempts to cure disability. But what constitutes a good life? There are other factors such as personal goals and preferences that can play a part in leading a good human life (Edwards, 2003). As the medical model is individualistic and is centered around bodies and minds, it does not consider the role of the social, cultural and physical environment in the disabling process. Thus, Pfeiffer (2001) suggests that the experiences of people with disabilities can be better understood through the use of the disability paradigm, which addresses important social factors.   2.5.2.3. The Social Model of Disability and the Rights-Driven Perspective  In opposition to the medical model of disability, which inadequately addressed many disability issues, the social model emerged. Although there was some measure of resistance against existing models, disabled people had not developed their own models across Europe and North America until the 1960s and 1970s (Barnes & Mercer, 2003; Withers, 2012).  In these continents disabled people called their models by different names and took different approaches in disability organizing. Canada and the United States adopted a “rights” model, whereas the United Kingdom developed “a social model”, which influenced disability organizing internationally (Withers, 2012). In general, people with disabilities were increasingly challenging the notion that their embodiment is inherently problematic and were critical of the “medical model’s focus on impairment as the defining characteristic of life as a disabled person” (Shakespeare, 1998, p.669).  The rights model of disability in North America focuses on ending discrimination, promoting human and citizenship rights, and ensuring that disabled people have equal access to these rights (Withers, 2012). Also, this model defines disability “as a characteristic, or a perceived characteristic, for which disabled people are treated unequally in society” (Withers, 2012, p.82). The disability rights movements brought positive outcomes to the lives of disabled 43  people, which might not have been achieved without its proponents' actions. The passage of the Rehabilitation Act (1973) and later the Americans with Disabilities Act (1990), as well as legal recognition and inclusion of the rights of disabled people in the Canadian Charter of Rights and Freedoms, were some of their achievements (Withers, 2012). Unlike in North America, in the United Kingdom's disability activists took a different approach to disability organizing and called it the social model of disability, which became the predominant discourse in disability organizing internationally (Withers, 2012). Under the social model, it is society “which disables people with impairments, and therefore any meaningful solution must be directed at societal change rather than individual adjustment and rehabilitation” (Barnes, Mercer, & Shakespeare 2010, p.163). The phrase, “the social model of disability” has been used with reference to various theories explaining the social construction of disability, but is generally linked to the materialist accounts of Vic Finkelstein (1980, 1981), Paul Abberley (1987), Brendan Gleeson (1999), Carol Thomas (1999), and perhaps, most notably, Mike Oliver (1990; 1996) (cited in Shakespeare & Watson, 2002).  Social Model Definitions of Disability  In 1976, a group called the Union of the Physically Impaired Against Segregation (UPIAS) developed the Fundamental Principles of Disability, which outlined its political platform. UPIAS (1976) stresses the importance of the social aspect in its definition of disability:   [D]isability is a situation, caused by social conditions, which requires for its elimination, (a) that no one aspect such as incomes, mobility or institutions is treated in isolation, (b) that disabled people should, with the advice and help of others, assume control over their own lives, and (c) that professionals, experts and others who seek to help must be committed to promoting such control by disabled people. (p. 3)   Also, UPIAS proposes a conceptual distinction between the definitions of ‘impairment’ and ‘disability’:   Impairment: Lacking part or all of a limb, or having a defective limb, organ or mechanism of the body. 44  Disability: The disadvantage or restriction of activity caused by a contemporary social organization, which takes no or little account of people who have physical impairments and this excludes them from participation in the mainstream of social activities. (UPIAS, 1976, p. 14)  However, since the definition was limited to physical impairments, it was later expanded to include all impairments such as physical, sensory and intellectual by the successive organizations of disabled people such as the British Council of Organizations of Disabled People (BCODP) (Thomas, 1999). In 1981, the UPIAS re-definition of ‘disability’ was adopted by the Disabled People’s International (DPI). The DPI's definition:  Impairment: is the functional limitation within the individual caused by physical, mental or sensory impairment. Disability: is the loss or limitation of opportunities to take part in the normal life of the community on an equal level with others due to physical and social barriers. (DPI, 1982, cited in Thomas, 1999, p.15)  The social model provides a different approach to understanding disability. As Oliver (1996) argues, the social model of disability does not deny the difficulties or barriers experienced by people with impairments, but puts the responsibility for those problems on society, rather than within the individual. People with disabilities did not need to change: society needed to change. Instead of a focus on individuals’ functional limitations, according to the social model, disability lies in “society’s failure to provide appropriate services and adequately ensure the needs of disabled people are fully taken into account in its social organization” (Oliver, 1996, p. 32). Most importantly, this model recasts disability as social oppression, not a biological medical condition, which results in disabled people’s social exclusion and discrimination (Oliver, 1996). Given this, the social model suggests that external disabling and discriminatory factors limit the life opportunities of people with impairments. In opposition to the traditional view of disabled people as medical tragedies, the social model attempts to break the link between impairment (body) and disability (social creation). Like the medical model, this paradigm also emphasizes one particular aspect of disability (the socio-45  economic) (Bhaskar & Danermark, 2006). The social model claims that disability is the outcome of the socio-economic arrangements in a society, especially the means of industrial production. The bodily dimension was not included in its analysis (Bhaskar & Danermark, 2006).  The social model has been central to the political empowerment of the disability movement, the identification of a political platform, and the promotion of disability as a civil rights issue (Shakespeare, 2006; Shakespeare & Watson, 2002). While it proves an effective practical tool for gaining insight into the disabling tendencies of modern society, the social model is claimed not to be a social theory of disability, although it is often used as if it were one (Oliver, 1996; Shakespeare, 2006).   Repercussions of the Social Model  Obviously, the social model of disability is different from the medical view, which in turn influences the practice of PT. The disabled people's movement has gained prominence at the same time as genetic intervention in reproduction became a routine possibility. As the demand for equal rights becomes an important political concern, the possibility of preventing the births of children affected by certain genetic conditions has become a reality (Shakespeare, 1999).  For the disability movement, testing and selective termination of a fetus diagnosed with a condition such as DS is a major component of the forms of discrimination that create disability. Therefore, as a political principle, the opposition to screening out impairments for the sake of eliminating disability is grounded in the fight against disabling social barriers and structural discrimination. Arguing for disability rights, activists opposed the abortion of fetuses affected by genetic abnormality (Shakespeare, 1998). According to the disability rights perspective on PT, the prevention of particular disabilities undermines the existence of those living with that disability. Society should value disabled people alongside all human life.   Critiques of the Social Model  In spite of its strengths, the social model of disability is not beyond critique. Several aspects of the social model of disability have been repeatedly subjected to criticism. One objection is that the social model denies “the pain of impairment”. A number of writers, particularly those coming from a feminist perspective such as Jenny Morris, (1991), Sally French 46  (1993) and Liz Crow (1992), as well as Mike Bury, who has defended the use of the ICIDH schema, argued that the social model of disability neglects the individual’s everyday experience of impairment. It overemphasizes the discrimination inherent in disabling relationships, but neglects to acknowledge the significance of impairment within people’s lives (Swain, French, & Cameron, 2003).  As a result, a major part of disabled people’s lives are neglected, as impairment is part of their daily personal experience. Hence, it has been argued that by focusing on social structural barriers we are, in effect, denying the personal experience of disability and of impairment (Crow, 1992; French, 1993; Morris, 1991; Thomas 1999):  There is a tendency within the social model of disability to deny the experience of our own bodies, insisting that our physical differences and restrictions are entirely socially created. While environmental barriers and social attitudes are a crucial part of our experience of disability – and do indeed disable us – to suggest that this is all there is to it is to deny the personal experience of physical or intellectual restrictions, of illness, of the fear of dying. (Morris 1991, p.10)   Crow writes: As individuals, most of us simply cannot pretend with any conviction that our impairments are irrelevant because they influence every aspect of our lives. We must find a way to integrate them into our whole experience and identity for the sake of our own physical and emotional well-being,
and, subsequently, for our capacity to work against disability. (Crow, 1992, p.7)  Response to such critiques has been varied. Oliver (2004), for example, noted that objections of this sort are based upon a conceptual misunderstanding, because the social model is not about the personal experience of impairment but the collective experience of disablement.   Shakespeare and Watson (2002) posited that barrier removal would not solve all the problems associated with disability, as some of the problems are caused by impairment and not by society. Logically, it is clear that different impairments affect people in different ways. That 47  is, not only do they have different implications for health and individual capacity, they also cause different responses within broader cultural and social contexts. Marks (1999) discussed a number of the limitations of the social model of disability. According to her, first, the model tends to ignore the intersectional experiences of disability with other axes of inequality, such as gender, sexuality, race, culture or other distinctions. The proponents of the social model have been criticized for being sexist, due to the predominant representation of white, Western, male wheelchair users, often neglecting the experiences of disabled women and other disabled people with different social backgrounds.  Marks (1999) argues that the focus of the proponents of the social model is principally on physical barriers, at the expense of other forms of oppressions of people with disabilities. They, in turn, feared being labeled “mental”, “thick”, “mad” or “stupid” by the non-disabled population if they were associated with people with learning difficulties or mental health problems (p.88). Marks also highlights that the social model has been closely linked with many of the values of capitalist society, which prioritizes work and independence. She also mentioned the conflict faced by many disabled people who, as a result of their impairment, feel they have a legitimate right to withdraw from the labor market, whilst at the same time the proponents of the social model are demanding the right to work. Thirdly, in the social model’s efforts to avoid any form of medicalization or link with impairment, the disabled people’s movement requires an individual to positively identify himself or herself as a disabled person. Marks (1999) notes, however, that many people with impairments do not consider themselves as disabled, to which the social model responds by accusing them of having a ‘false consciousness’.  The social model, even if imperfect, was a groundbreaking conceptualization of disability that departed from all the models before it and led to positive changes. Without this movement, many disabled people would not have been able to access education, housing, transportation, the electoral system or other resources in their communities. Moreover, its fundamental tenets were amalgamated into transnational policies, such as the two disability classifications of the World Health Organization (WHO) of 1980 and 2001 and the United Nations Convention on the Rights of Persons with Disabilities (UN CRPD) in 2006 (cited in Waldschmidt, 2018). An important part of the disability movement has been to challenge the bioethical defense of PT, while maintaining that it is legitimate to allow the individual to make an informed choice and supporting women's individual right to choose (Mclaughlin, 2003). They focused on fighting 48  against prejudice and discrimination, and defending self-determination and disabled people’s rights. In light of the issue's complexity, Shakespeare (1998) argues that the absolute denial of abortion is not the only possible claim that could be made by the disability movement. There is therefore some tension at the heart of the debate around PT, associated with the conflict between choices and rights: a woman’s right to choose and the civil rights of disabled people, the postulated rights of the unborn child, as well as the rights of the individual versus the rights of the collective. They need to look beyond the actions of individual women and examine the larger context.  As summarized by Ellis (2015), “neglecting cultural imagery, certain personal experiences and the impacts of impairment” are weaknesses of the social model (p.3). Shakespeare (1998) also notes that the attempt to disassociate impairment from disability weakened the opposition of the disability movement against PT. He points out that prenatal testing is offered at the medical level to prevent impairment. If the disability movement ignores the impairment, it could be logically unreasonable to oppose the prevention of impairment through PT. If the disability movement challenges negative valuations of life with impairment, their defense of disabled people’s lives could be more effective (Shakespeare, 1998).  In summary, the examination of the contrasting ways of thinking about disability and the relationship of impairment to limitation, as outlined above by opposing social and medical models has led to the development of an alternative identity model (the affirmation model). This view that can also be seen as a development to the underlying principles of the social model presents a more positive definition of disability.  2.5.2.4. The Identity Model (or Affirmation Model) of Disability   During the late twentieth century, the identity model (or affirmation model) emerged in direct opposition to the dominant personal tragedy view of disability and impairment. The affirmation model was initially introduced and named by Swain and French (2000) in order to address criticisms of the social model of disability. This model shares the social model’s view that the disability experience is socially constructed. However, moving beyond the basic position of the social model, it redefines disability as “a positive identity encompassing impairment, as well as disability” (Swain & French, 2000, p.569). Brewer, Brueggemann, Hetrick, and Yergeau, 49  (2012) present the following basic elements of identity model and explain the difference between the social model and the identity model:   Under the identity model, disability is a marker of membership in a minority identity, much like gender or race . . . Under an identity model, disability is primarily defined by a certain type of experience in the world – a social and political experience of the effects of a social system not designed with disabled people in mind . . . [W]hile the identity model owes much to the social model, it is less interested in the ways environments, policies, and institutions disable people, and more interested in forging a positive definition of disability identity based on experiences and circumstances that have created a recognizable minority group called ‘people with disabilities’. (pp. 3-4)   Based on the writings and the lived experiences of disabled people, Swain and French (2000) frame a view of disability that could “enhance life or provide a lifestyle of equal satisfaction and worth” (p.570). In addition, they made it clear that, being impaired, disabled individuals can still lead productive and positive lives. This does not neglect any negative experiences that may result from impairment, but this is not all that impairment is about (Cameron, 2015). Swain and French (2008) identified a number of ways of what the affirmative model is about:  being different and thinking differently about being different, both individually and collectively,  the affirmation of unique ways of being situated in society,  disabled people challenging presumptions about themselves and their lives in terms of not only how they differ from what is average or normal, but also about the assertion, on disabled people’s terms, of human embodiment, lifestyles, quality of life and identity, and,  ways of being and living that embrace difference. (p.185)  Although the affirmation model proposed by Swain and French (2000) provided a new way of reflecting on the experiences of people with impairments, it lacked a definition or any defined formulas to change those elements that characterize individual/tragedy models. To 50  address ambiguity around the meaning of the affirmative model, Cameron (2010) suggested the clarified affirmative model as expressed in two definitions below:  Impairment: physical, sensory, emotional and cognitive difference, divergent from culturally valued norms of embodiment, to be expected and respected on its own terms in a diverse society.  Disability: a personal and social role which simultaneously invalidates the subject position of people with impairments and validates the subject position of those considered normal. (Cameron, 2010, p.113)   In defining impairment as difference, Cameron (2010) identified impairment as an important part of people’s identities whereas the social model represented it as having a “defective” part of the body (UPIAS, 1976) or “functional limitation” (DPI, 1982). This definition establishes “the rights of people with impairments to feel okay about themselves and to take pride in who they are as people with impairments” (Cameron, 2015, p. 118).  In defining disability as role, the affirmation model views disability “as a productive as well as a restrictive relationship” (Cameron, 2015, p. 118). It recognizes that disability places an oppressive social requirement on people with impairments to think and act in ways that conform to societal norms and expectations in everyday encounters and practices.  As a disability orientation that promotes a positive self-image and a non-tragic view, the identity (affirmation) model rejects the systems of normality that dominate society (Swain & French, 2000). There persists the assumption that children with DS have a significantly lower quality of life than a typical child has. Perhaps, the most distressing example of this negative presumption is the position that it is better to avoid the birth of children with DS through the increasing routinization of testing. This, for many disabled people, is an expression of the essence of the tragedy model (Swain & French, 2000). In contrast, an affirmation model framing might suggest that trisomy 21 is one of many possible human genetic variations, constituting a core part of a person’s identity and of their experience. This view motivates to challenge the underlying assumptions about children with disabilities as presenting “tragedy” and “hardship” and “grief” for their family. This is also reflected in research literature that reframed the experience of having a child with a disability, 51  shifting the focus from negative outcomes originated from clinical perspectives onto more positive experiences of families raising a child with a disability (Ferguson et al., 2000; Hodapp, 2007; Lalvani, 2008; Van Riper, 2007). In other words, the point of the affirmation model is to redirect attention towards how societal views and reactions make having a child with a disability more difficult than the actual care required for a child with a disability.  Despite this positive change, negative societal presumptions about impairment and disability continue to exist and frame the dominant discourse on the familial experience and inform professional practice regarding PT. This necessitates the examination of the social values embedded in PT and the broader social and cultural context in which decisions are undertaken. The afore-mentioned models do not sufficiently acknowledge the sociocultural contexts in which the meaning of disability is embedded, nor the manner in which deficit-based hegemonic discourses influence and shape the parental reactions, decision and subsequent adjustment. A thorough understanding of this topic must incorporate another emerging model, which will contribute to new insights about the socio-cultural construction of PT and disability identity.  2.5.2.5. The Cultural Model of Disability  The cultural model is seen as a necessary complement to address the role and relevance of cultural practices in society and their impact on our understanding of disability. While each of the models outlined above focuses only one factor in their approach, this emerging perspective examines a range of cultural factors (Retief & Letsosa, 2018). The construction of normativity across cultures gained recognition as an important element of disability (Bhaskar & Danermark, 2006). In other words, cultural approach seeks to explain how different notions of disability and non-disability (able-bodiedness) were constructed and function in different cultures (Bhaskar & Danermark, 2006; Retief & Letsosa, 2018).   The importance of culture as a category in disability studies has long been recognized. In 1994, Shakespeare stated that “that disabled people are ‘objectified’ by cultural representations” through paintings, films and in media portrayals (p.287). American scholar Garland-Thomson (2002) also suggested integrating “disability as a category of analysis and knowledge, as a cultural trope, and an historical community.” (p.2.)  In 2006, Snyder and Mitchell presented a “cultural model of disability” that was primarily related to disability studies discourses in the United States. They sought to develop an 52  analysis of cultural locations of disability and the operation of deviance that evoked sites of violence, restriction, confinement and absence of liberty for disabled people. Their work acknowledges, “environment and bodily variation (particularly those traits experienced as socially stigmatized differences) inevitably impinge upon each other” (pp.6-7). As Wendell states, “the distinction between the biological reality of disability and the social construction of a disability cannot be made sharply” (1996, p. 35). Thus, under the cultural model, the definition of disability will necessarily include “both the outer and inner reaches of culture and experience as a combination of profoundly social and biological forces” (Snyder & Mitchell, 20006, p.7). Although they played an important role in defining theoretical contours of the cultural approach in understanding disability, the content of the model remained vague.  Additionally, in religious studies, Junior and Schipper (2013) also outlines the characteristics of the cultural model and explains “how a culture’s representations and discussions of disability (and nondisability or able-bodiedness) help to articulate a range of values, ideals, or expectations that are important to that culture’s organization and identity” (p. 35). Ellis (2015) argues that although the distinction between disability and impairment is not overt in the US cultural models, the predominant dimensions are more in social and cultural contexts rather than medical or individualist. Very recently, drawing on the approach of disability studies, German scholar Waldschmidt (2017) developed a cultural model of disability. She suggests an analytical perspective that uses the concept of “dis/ability”. This model views disability neither as an individual fate (as in medical model) or tragedy, nor as an effect of discrimination and social exclusion (as in social model). Dis/ability is viewed as:  contingent and intersectional type of difference that relates to the realms of health, functioning, achievement and beauty as usually positively valued aspects of human life, and their seemingly negative poles such as disability, impairment, frailty, failure and ugliness. (Waldschmidt, 2018, p.74)  Within the model, impairment and disability are not distinguished as clear-cut categories of pathological classification. They are called as “structuring cultures” that are “concurrently structured and lived through culture” (Waldschmidt, 2018, p.76). As such, in any culture, at any 53  given period, these classifications are determined by power structures, and circumstanced by history and hegemonic discourses (Waldschmidt, 2017). As a consequence, Waldschmidt (2018) suggests four ways of thinking:  It analyzes impairment, disability and normality as “empty signifiers” (words) that are “filled” with different meanings through discursive processes.   It views disability “as a category of human differentiation” that is always embodied and naturalized. Disability exists as certain (bodily and embodied) differences and can be distinguished as “relevant for health” within a given cultural and historical order of knowledge.   It regards dis/ability as effected by symbolic orders, bodily practices and social institutions, all of which produce “normality” and “deviance”, the “self” and the “other”, “familiarity” and “alterity”.  It focuses on the “center” of society and culture in general. It seeks to challenge “the other side of the coin”, the commonly accepted “normality”, and examines how practices of de/normalization result in the social category to be called “disability.” (pp.75-76)   Through this lens, it becomes apparent that the biological nature of disability and the avoidance of physical challenges, burden and grief that may be associated with a disability, might be far from the only reason that selective abortion is encouraged. Specific practices like PT, the accompanying parental reaction to a diagnosis of DS, their decision to continue the pregnancy and subsequent adjustment to the diagnosis of DS can be better understood in the context in which these experiences are culturally and socially construed and the meanings that parents attach to this issue. Women do not make decisions regarding a diagnosis of DS in isolation from their social and cultural context. They are part of a family constellation, which is part of society in general, which is contingent upon factors that change with time and location (Lawson & Pierson, 2007). If in such a context the abortion of a fetus with a disabling trait is morally acceptable, then termination is likely to be the result (Mclaughlin, 2003). In light of these tenets, the study offered additional and wider insights into the context in which practice of PT is embedded in socio-cultural beliefs about disability, and how mothers’ experiences of continuing affected pregnancy are shaped by hegemonic discourses as well as by historically and politically situated practices, which simultaneously derive from the constructed meaning of 54  disability and socio-cultural normative expectations on families of children with disabilities.  Social Constructions of Disability   The meaning of both disability and impairment is considered to be socially conditioned and constructed. This indicates that strict biological descriptions of disability may fail to examine the social, political, and other factors that brought them into discourse. Wendell (1996) divides the social factors that construct disability into three general components:  1. Social elements, which include the availability and application of medical resources, as well as aspects of working and living environments, impact bodies by causing, or not preventing, illness and injury. 2. Structural reinforcement of expectations pertaining to the pace of daily life within a society, and the contingent pressure to perform at such a pace, marginalize people with disabilities. 3. When people are not given the amount, or the kind of help that they need in order to be full participants in society in all meaningful ways, disability is socially constructed. This is “the failure or unwillingness to create ability among people who do not fit the physical and mental profile of ‘paradigm’ citizens.” (Wendell, 1996, p. 41).  The critical examination of the social factors (how members of a group are treated) and cultural factors (how members of a group are viewed and represented based on social norms and dominant attitudes) that shape disability has fundamentally contributed to our understanding of the socio-cultural constructions of disability, and the contexts in which parental decisions are undertaken. One of the locations where social and cultural factors have the most impact on parents’ decision-making is the representation of normal and abnormal.   According to Wendell (1996), the lack of realistic cultural representations of people with disabilities leads to widespread fear of being disabled, which ultimately creates an assumption that disability means social exclusion. This carries the unfortunate implication that a disabled person is therefore unworthy of living in society, and thus of even living at all. Such assumptions contribute to the efforts to prevent disability through selective abortion. In this way, the common understanding of what the diagnoses of particular disabilities actually mean, and of the quality of life expected for people with those disabilities, puts the welfare, security and social acceptance of people with disabilities in jeopardy. By deconstructing the supremacy of the norms, the taken-for 55  granted meanings of ability have been challenged in order to present disability as a set of social problems and responsibilities (Garland Thomson, 1997; Wendell, 1996).  Framing Bodily Difference: Stigma and Its Effects  In a society that idealizes physical and mental capacities, people with disabilities are marginalized. Wendell (1996) explained that the disabled are not only devalued for their bodies that depart from the norm, they are also constant reminders to the able-bodied of the negative body – of what the able-bodied are trying to avoid, forget and ignore. Differences of physical and mental characteristics have different implications for the construction of a disabled identity. Goffman (1963) suggests that all human differences are subject to stigmatization, as we move between contexts where difference is acceptable to contexts where it is rejected.  In his work, Goffman (1963) describes stigma as a “special kind of relationship between attribute and stereotype” (p.4). He asserts that stereotypes are composites of social categories for classification and their linked attributes. He tends to illustrate that the meaning of a sign of difference (attribute) is generated in interactional situations with people. Within that context the attribute (a sign of difference) is regarded as a stigma due to others’ anticipations about that group and its member. This stigmatization forms a part of the social construction of a person with disability. Those who possess the power to stigmatize people are “normals”, adherent to prevalent norms (dominant group). Moreover, dominant groups routinely select which differences are to be marked as unwanted. As Goffman (1963) observed, a major aspect of a person’s experience of having a disability is the ongoing struggle to fight against potential devaluation by others that accompanies a person’s social category. Goffman explains how social obstacles limit the participation of individuals in their social positions. He also shows that the way people view and recognize their “self”, their identity, is essentially social and inter-subjective. This understanding of stigmatization has helped create a shift away from the perspectives of the medical model, which locates the problem within the person, to those that recognize “disability” as a phenomenon deeply embedded in the social context of interaction and meaning production. In addition, although disability is not inevitably stigmatizing, it often undermines the-taken-for-granted meaning of ability (Susman, 1994).  56  A direct effect of such stigma can be seen in the pressures placed on mothers with regard to PT. Generally, the responsibility for care of children mostly falls on mothers. PT extends this responsibility further (Brookes, 2001). There are societal anticipations regarding the role of motherhood. Women are pressured to fit into the social category of “a perfect” mother, which means to produce a child who will be socially acceptable in her community (Brookes, 2001, p.141). The existence of PT means that women who decide to birth a child with a disabling trait effectively choose the social stigma and approbation associated with such births (Brookes, 2001). Women are thus held accountable for people’s reactions to their children, and to themselves. This personal focus makes discrimination appear to be an individual occurrence rather than the manifestation of a more general social problem (Brookes, 2001). Thus, “people with Down syndrome and their families face what Charles Taylor (1995) has called a ‘struggle for recognition’ to a larger extent than people with spina bifida and their families” (cited in Solberg, 2009, p.190).  Stainton (2003) views selective termination as a form of identity-based discrimination and adds that such discrimination stems from modernity's historical valuation of the intellect. The identity-constituting characteristics of DS are based partly on the fact that people with the syndrome typically have intellectual/cognitive impairments. Also, due to her or his facial features, a person with DS is easily recognized. All these attributes, which fall short from societal norms, add up to DS being constructed as “other” (Solberg, 2009).  Intersectionality  The approaches discussed earlier equip us to go beyond cultural expectations and uncove