Prenatal cytogenetic study of translocation carriers.

Abstract

A total of 37 prenatal diagnoses were analysed: 10 observations in which one of the parents carried a Robertsonian translocation and 27 observations in which one a reciprocal translocation was carried by one of the parents. The segregations of the inherited chromosome structural rearrangements were analysed in relation to the methods of ascertainment of the anomaly in the family, and the types of rearrangement. The mode of ascertainment proved to be a very useful indicator of the risk: those cases ascertained through abnormal livebirths had a 44% risk in our series, but there was no unbalanced fetus in the group ascertained through recurrent abortions.