Findings on ultrasound at 32 weeks gestation include [Images 1 to 10] :
head circumference at the upper limit (90th centile)
bilateral wrist contractures
decreased swallowing (not shown)
undescended testicles (cryptorchidism)
No other anomalies were noted on 2nd look ultrasound examination. We performed a thoracoabdominal MRI, looking for the upper neck pouch sign as in esophageal atresia. The MRI showed amniotic fluid in the pharynx, larynx and esophagus without the pouch sign [Images 11 to 13].
We also performed an amniocentesis with amnioreduction. The karyotype was 46 XY, and molecular genetic targeted testing for Steinert myotonic dystrophy and Noonan syndrome were negative.
Another amnioreduction was performed at 37 weeks gestation for maternal discomfort and AFI of 50.
Two days later, patient experienced preterm rupture of membranes and abnormal presentation. A C-section was performed.
The male fetus was born at 37 weeks gestation with the following laboratory studies: pH 7.31 and lactate 3; and newborn measurements: birth weight 2.3 kg (5th percentile), head circumference 35 cm (80th percentile), height 50 cm (79th percentile). The baby's APGAR score was 0, 1, and 4 at 1, 5 and 10 minutes of life. He had a respiratory distress requiring assisted ventilation. The newborn had areflexia, severe hypotonia, facial muscle weakness and wrist contractures. We confirmed the suspected bilateral cryptorchidism and found a narrow, high palate on examination. Chest X-ray showed thin ribs, and suspected left diaphragm paralysis. The newborn passed away in the neonatal ICU unit.