Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14q12-qter.

We present the prenatal ultrasound findings in a case of postnatally identified paternal uniparental isodisomy 14q12-qter. Increased nuchal translucency and a large omphalocele were identified at 14 weeks' gestation. Karyotyping revealed a normal male, 46,XY. As gestation advanced, polyhydramnios developed, skeletal abnormalities involving the long bones and chest became evident, hand contractures developed, and the presumed large omphalocele was in part found to be a large ventral hernia, as echogenic adipose tissue could be seen in the abdominal wall near to the cord insertion. Prenatal findings were confirmed after delivery and central nervous system imaging revealed lissencephaly. The combination of an abdominal wall defect with either increased nuchal translucency or skeletal abnormalities should prompt an investigation for uniparental disomy 14 even if the karyotype is normal.