We report a case of prenatal diagnosis of CDLS at 29 weeks’ gestation in a 30-year-old woman who had previously delivered a normal baby. The patient was referred to our fetal medicine unit because of fetal growth restriction, diagnosed at 24 weeks’ gestation. As no Doppler flow anomalies were detected, a genetic anomaly (lethal trisomy) rather than placental insufficiency was suspected by the referring doctors. Ultrasound examination in our unit demonstrated symmetrical fetal growth restriction with normal Doppler studies. The amniotic fluid was increased with a deepest vertical pool of 9.2 cm. Examination of the fetal face showed abnormal profile, synophrys, depressed nasal bridge, long downturned upper lip, and micrognathia (Figure 1A,B). Cardiac examination demonstrated abnormal flow through the atrio-ventricular, aortic, and pulmonary valves. The third finger of the right fetal hand was missing, and the fingers of the left hand were overlapping.

The suspected diagnosis was Cornelia de Lange syndrome, CDLS. We discussed the findings with the patient, and we presented the parents with the choice of a late amniocentesis. We explained that lethal conditions such as trisomy 18 or 13 can be ruled out only by direct genetic testing. We described the genetic tests that can be performed for CDLS and we discussed the limitations of such tests, given the circumstances. A geneticist was involved in the counselling. The parents refused any prenatal genetic testing, as they were committed to the pregnancy.

The initial ultrasound findings persisted in the third trimester (Figure 1C). As pregnancy progressed the polyhidramnios worsened but did not become tense and did not require amniodrainage. Fetal skin edema was seen in late pregnancy.

A male infant weighing 2030 g was delivered by cesarean section at 38 weeks of gestation. An experienced neonatologist was present at birth. CDLS was confirmed by clinical examination demonstrating synophrys, long eyelashes, short upturned nose, thin downturned lips, long philtrum, excessive body hair, mild aortic valve stenosis and moderate aortic arch hypoplasia, missing fingers, and severe gastroesophageal reflux. A multidisciplinary team, including a geneticist, was involved in the care of the baby. Genetic testing was offered after birth, but it was declined by the parents of the baby.