Abnormal first-trimester fetal nuchal translucency and Cornelia De Lange syndrome

Cornelia de Lange syndrome is a genetic disorder associated with delayed growth and characteristic facial features. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We describe a case of Cornelia de Lange syndrome associated with an increased nuchal translucency in the first trimester.

A large nuchal translucency was identified in a fetus during a first trimester ultrasound. Subsequent second- and third-trimester sonograms demonstrated severe fetal growth restriction, limb shortening, and abnormal facial features, despite normal fetal karyotype per chorionic villus sampling. Neonatal evaluation confirmed the diagnosis of Cornelia de Lange syndrome.

Sonographic finding of an increased nuchal translucency in early pregnancy is associated with fetal aneuploidy and various structural and genetic abnormalities. Increased nuchal translucency may identify fetuses that require vigilant assessment, especially when found in association with other abnormalities.