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Cytogenetic analysis of couples with recurrent abortions Charlton, William Robert David


Cytogenetic studies of recurrent abortion have established that a significantly higher frequency of translocations exist within the population of couples presenting with histories of repeated abortion than in the general population. However, few of these studies have been able to establish a direct correlation between balanced parental rearrangement and the recurrent abortion. The present study was a cytogenetic analysis of couples with recurrent abortion, and utilized (i) the newer chromosome banding techniques and (ii) cytogenetic and morphological data on one or more abortus specimen per couple. During the course of the study 50 couples and two women were studied. Chromosomes were obtained from leukocyte blood cultures and giemsa-banded. C-banding and/or fluorescent banding was employed only if the karyotype was suspected to be abnormal. One translocation was found among 102 individuals: a t(14q15q) in a woman who had aborted a specimen with growth disorganization and a karyotype 45,XY,t(14q15q). The implications of this finding are discussed. Morphological studies on the abortuses indicated that specimens with growth disorganization are more frequent among women who are recurrent aborters with no term pregnancies and, were found to recur among this sub-population. The frequency of translocations among couples with recurrent abortion is considered in terms of the effects of translocations on reproductivity. The need for cytogenetic culture data on abortuses in serial studies on recurrent abortion is discussed.

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