A false-positive diagnosis of Turner syndrome by amniocentesis.

A 45,X karyotype was observed in all cells examined from an amniotic fluid sample taken at 16 weeks' gestation from a 37-year-old patient referred because of her age. Following termination of the pregnancy, all cells examined from fetal tissues (cardiac blood, skin, and muscle) showed a 46,XX karyotype. The most likely explanation for the discordant results is thought to be a dizygotic twin pregnancy with a normal fetus and an empty sac, the latter being sampled at amniocentesis resulting in a 45,X karyotype.