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Counselling of age-related risks and prenatal diagnosis : an overview of community and medical genetics counselling Sedun, Karen Leah

Abstract

The effectiveness of genetic counselling regarding risks associated with advanced maternal age (AMA) and prenatal diagnosis (PND) was assessed in three groups of women; those with AMA only who are counselled by their primary care physician or obstetrician within the community (AO, N=311), those with AMA plus a minor concern (s) who are counselled by genetic counsellors (AP, N=52), and those with AMA as well as complex indications for prenatal diagnosis such that they are counselled by genetic counsellors and medical geneticists (AC, N=36). Subjects were asked to complete two questionnaires. Patients in AO completed the first questionnaire (Ql) after receiving counselling from their primary care physician in the community and before having a prenatal diagnostic procedure. Patients in AP and AC completed Ql at the Medical Genetics clinic immediately before their genetic counselling. Patients in all three groups completed the second questionnaire (Q2) either immediately after their procedure before leaving the hospital or within four weeks postprocedure, prior to receiving their test results. The questionnaires were designed to look at subjects' knowledge of the information normally presented in AMA counselling and to assess the emotional responses of women regarding their involvement with PND. Patients in all three groups were more informed in Ql and Q2 regarding risks associated with having a procedure than risks associated with a chromosomal abnormality. While a majority of the women in each group said that they had been told the risk estimates requested of them, the number of women in each group who subsequently reproduced these figures was less than a majority. Finally, patients in all three groups demonstrated a decrease in anxiety once the procedure was complete. The effectiveness of the genetic counselling process does not appear to be related to those providing the genetic counselling or the patient's ability to recall factual information.

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