Risk for chromosome abnormality at amniocentesis following a child with a non-inherited chromosome aberration. A European Collaborative Study on Prenatal Diagnoses 1981.
Based on 2890 prenatal diagnoses from 12 European countries the risk for a chromosomally abnormal fetus at amniocentesis after the birth of a child with a chromosome abnormality has been estimated to be 1.3 per cent when the mother's age is 34 years or less at amniocentesis and 1.8 per cent if the mother is older. This risk does not depend on paternal age, and it is independent of the type of the chromosome abnormality of the index child. Some geographical heterogeneities were detected. Therefore, the overall risk has to be considered as a rough estimate. The chromosome constitution of the abnormal fetus differed from that of the index patient in 21 of 41 cases. Several explanations for the higher risk have been discussed. If the index child had trisomy 18, 13 or a sex chromosome abnormality, the fetus tended to be a female. If the index child was a trisomy 21, the fetal sex ratio was normal.
D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000453:epidemiology; D025063:Chromosome Disorders; D004314:Down Syndrome / Q000175:diagnosis / Q000453:epidemiology; D005060:Europe; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D008423:Maternal Age; D009030:Mosaicism; D010331:Paternal Age; D011247:Pregnancy; D012008:Recurrence; D012306:Risk; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000453:epidemiology; D014178:Translocation, Genetic