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By Ian H. Porter

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Additional resources for Perinatal Genetics. Diagnosis and Treatment

Sample text

7. , Epidemiology of chromosomal anomalies in spontaneous abor­ tions: prevalence, development and determinants. , Human Fetal Loss. Oxford: Oxford University Press, in press. , Very early pregnancy. , Perinatal Genetics. New York: Academic Press, pp. 3-21, 1986. , The relationship of maternal age and trisomy among trisomie spontaneous abortions. Amer. J. Hum. , 36:1349-1356,1984. , Monosomy X: a chromosomal anomaly associated with young maternal age. Lancet, 1:167-169,1980. , Inverse maternal age effect in monosomy X.

Limited data from the 46 JOE LEIGH SIMPSON European Perinatal Collaborative Study reveal no increased unbalanced pro­ ducts in prenatal diagnostic cases studied after ascertainment through repetitive abortion. 61 On the other hand, abortions and abnormal liveborns clearly co­ exist within other families, 62 ' 64 for which reason antenatal cytogenetic studies should probably still be offered. C. Recurrent Aneuploidy At least half of all first trimester losses show chromosomal abnormalities, but relatively few of these are structural.

The likely explanation for discrepancies among the various studies is dif­ fering clinical practices (sampling). If cytogenetic studies are routinely per­ formed on all couples experiencing recurrent fetal losses, relatively fewer translocations will be detected. By contrast, analysis restricted to couples who experience not only abortions but also stillborn infants or anomalous liveborn infants will yield relatively more translocations (Table 2). Gyne­ cologists encounter the former relatively more often than do other physicians.

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