Objective: To study the circumstances of discovery and the prenatal outcome of sex hormone anomalies diagnosed by invasive prenatal techniques during pregnancy and analyze which factors could be implicated in the parents' choice to terminate or carry on with pregnancy.
Methods: We reviewed retrospectively 47 cases of sex chromosome anomalies diagnosed and managed in our prenatal diagnosis unit over a 9-year period between January 1, 1990 and December 31, 1998. Only cases karyotyped in our laboratory and with a complete follow-up were considered.
Results: Cytogenic findings were mainly turner syndrome (n=25) and Klinefelter syndrome (n=12). The other karyotypes were the following: 47, XXX (n=6), 47, XYY (n=2), and 49, XXXXY (n=2). Among the 47 pregnancies, 11 (23.4%) were carried to term. The rate of pregnancy termination (68.1%) was high. The decision to terminate varied depending on the abnormal karyotype: 88% for Turner syndrome, 42% for Klinefelter syndrome, 33% for 47, XXX, 50% for 47, XYY and 100% for 49, XXXXY. The pregnancy termination rate was significantly higher when one or more abnormal ultrasound findings was present (92.3% vs 41.2%, p<0.01).
Conclusion: Our study confirms that termination rates remain high in case of sex hormone anomalies. Associated ultrasonographic findings play a major role in the parents' choice to terminate or carry on with the pregnancy. It would appear that the development of consensual guidelines in pluridisciplinary fetal medicine centers can help reduce the disparities currently observed among French centers in the management of fetuses with sex chromosome anomalies.