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To evaluate factors influencing parental decisions toward continuing or terminating a pregnancy with prenatal diagnosis of sex chromosome aneuploidy.We reviewed the records of patients with fetuses with sex chromosome aneuploidy between 1990 and 2001. A questionnaire survey of women who chose to terminate such pregnancies was designed to examine aspects of their decision-making process.Forty-nine of 89 pregnancies with sex chromosome aneuploidy were terminated (termination rate 0.55; 95% confidence interval 0.45-0.65). Pregnancies with abnormal ultrasound findings (14/16, 87%), with 45,X or 47,XXY karyotypes (26/36, 72%), and with nonmosaic karyotypes (30/48, 63%) were terminated significantly more often than pregnancies with normal ultrasound findings (35/73, 48%; P.01), with 47,XXX or 47,XYY karyotypes (4/12, 33%; P.05), and with mosaic karyotypes (5/25, 20%; P =.01). There was a trend (P =.136) toward a lower rate of termination from 67% to 36% across time, with a significant decrease from 67% to 7% in pregnancies with 47,XXX; 47,XYY; and mosaic karyotypes (P.01), and no change in cases with 45,X and 47,XXY karyotypes (67% compared with 69%; P = 1.0). Abnormal sexual development and infertility were the greatest parental concerns related to termination.Fear of having a child with abnormal sexual development or infertility remains the major determinant of parental decision toward terminating pregnancy, resulting in consistently high termination rates across time in pregnancies with 45,X and 47,XXY karyotypes. In cases with 47,XXX; 47,XYY; and mosaic karyotypes, the declining termination rate across time is a consequence of recent studies reporting normal sexual development and fertility.

Congenital malformations are more prevalent in twin than in singleton pregnancies. The rate of congenital heart malformations is higher in monozygotic than in dizygotic twin pairs, but concordance for anomalies in monozygotic twins is less than 20%. This retrospective analysis sought to confirm a connection between twin pregnancies and types of congenital heart malformations. The study group included 486 cases of prenatally diagnosed congenital heart disease: 455 in singleton pregnancies and 31 (6.4%) in 30 twin pairs. The types of cardiac defects in twins were compared with those in singletons. In monozygotic twins, 36% of cardiac malformations were pulmonary stenosis and 45% were endocardial fibroelastosis; both of these diagnoses were significantly more common in twins than in singleton fetuses (P = .0000018 and .0019, respectively). When dizygotic twins were compared with singletons, the only defect with a different incidence was Ebstein malformation, which was found in 25% of dizygotic twin pregnancies but in only 0.9% of singleton pregnancies. The overall rate of congenital heart disease was higher in monozygotic twins than in dizygotic or dichorionic twins. Twin pregnancy is, by itself, an indication for fetal echocardiography to detect congenital cardiac malformations. The investigators favor doing a fetal echocardiogram between 18 and 20 weeks gestation. The type of malformations found in monochorionic twin pregnancies differs from what is found in singleton, dizygotic, or dichorionic twin pregnancies.