Genetic counselling and parental decisions following antenatal diagnosis of sex chromosome aneuploidies

Summary

Thirty-seven cases of sex chromosome aneuploidy were detected on amniocentesis in our laboratory between 1980 and 1986. Genetic counselling was offered to the parents upon discovering these abnormalities. Information based on long term prospective studies of newborn was given and supplemented with information from our personal experience of similar patients. Twenty-three sets of parents decided to continue with their pregnancies and 14 elected abortion. The main reasons for abortion were because of physical congenital abnormalities (this applied principally to those fetuses with Turner's syndrome) and the risk of intellectual retardation in some XXX and XXY pregnancies although most of these continued to term. Two out of three XYY pregnancies and all those with a mosaic karyotype continued. The aborted fetuses were examined and the karyotype confirmed where possible. Support was offered to the parents during their decision making period and continued thereafter, whatever their decision.