Increased nuchal translucency and diaphragmatic hernia. A case report.

Increased nuchal translucency (NT) thickness is present in 40% of fetuses with diaphragmatic hernia, including 80% of those that result in neonatal death and in 20% of the survivors. A 33-year-old nulliparous woman had first trimester scan at 12 weeks. The fetus had a NT of 2.3 mm, normal ductus venosus (DV), and tricuspid doppler and present nasal bone. Pregnancy-associated plasma protein A (PAPP-A) was 0.59 MoM and beta-human chorionic gonadotropin (b-hCG) 2.56 MoM. The couple did not opt for chorionic villous sampling (CVS) and repeat ultrasound examination was advised. At 18 weeks, ultrasound revealed left sided diaphragmatic hernia. The couple consented for termination of the pregnancy. The molecular test showed normal karyotype and male gender. In such cases with intrathoracic herniation of abdominal viscera, the increased NT may be the consequence of venous congestion due to mediastinal compression. The prolonged compression of the lungs causes pulmonary hypoplasia. Increased NT with normal fetal karyotype is associated with structural fetal anomalies like diaphragmatic hernia and screening at 16-18 weeks is imperative.