Parental decisions following prenatal diagnosis of sex chromosome aneuploidy: a trend over time

Research over the last 20 years has considerably changed the understanding of the natural history and prognosis for individuals with a diagnosis of se x chromosome aneuploidy (SCA). A cross-sectional retrospective analysis of factors influencing parental decisions following a prenatal diagnosis of SC A during the time period of 1971-97 was performed. The records of 169 fetus es with a prenatal karyotype of 45,X, 47,XXX, 47,XXY, and 47,XYY were revie wed. Mosaic karyotypes for SCA were also included. Information reviewed inv olved: parental decision, the type of SCA, the presence or absence of mosai cism, the presence or absence of a fetal anomaly diagnosed by ultrasound ex amination, indication for prenatal diagnosis, prenatal procedure performed, parental age, marital status, previous pregnancy history, family history, ethnicity, religion, education, and profession. A significant correlation w as found between the decision to continue a pregnancy and the type of SCA a nd the presence of fetal abnormalities on ultrasound examination. Tn additi on, this study examined differences in parental decisions over time for the years in question. A statistically significant trend was observed with a h igher rate of pregnancy continuation in the more recent years. Copyright (C ) 2000 John Wiley & Sons, Ltd.