Prenatal diagnosis of trisomy 21 in monozygotic twins with increased nuchal translucency and abnormal serum biochemistry.

We present a case of a monozygotic twin pregnancy who underwent routine screening for chromosomal abnormalities at 14 weeks of gestation by ultrasonographic measurement of nuchal translucency and biochemical analysis of maternal serum alpha fetoprotein and free beta human chorionic gonadotrophin levels. Both screening methods indicated the pregnancy to be at increased risk of Down syndrome, with the ultrasound findings suggesting both fetuses to be affected. An amniocentesis was performed, and karyotype analysis revealed trisomy 21 in both fetuses; the mother subsequently opted for a termination of pregnancy. This case illustrates that screening for trisomy 21 in twin pregnancies is possible by both nuchal translucency measurement and maternal serum markers.