Case 1: A Full-Term Neonate with Trisomy 13 and Pneumoperitoneum

Case Presentation

A female infant is born at 37+1 weeks of gestation via an emergency cesarean section to a 35-year-old, gravida 3, para 1+1 woman who is taking insulin for a known medical history of gestational diabetes mellitus but has no other medical problems. The pregnancy is normal, with normal prenatal laboratory screening results; a fetal survey is remarkable, because it reveals Dandy-Walker malformation. There is no history of consanguinity. The mother presents with labor pain and does not receive antenatal corticosteroid therapy.

The neonate’s Apgar scores are 9 and 9 at 1 and 5 minutes, respectively. Her vital signs are stable (temperature, 36.5ºC; heart rate, 160 beats/min; respiratory rate, 75 breaths/min; blood pressure, 60/35 mm Hg; and oxygen saturation, 90%), though initial newborn examination reveals dysmorphic features (depressed nasal bridge, large globular nose, polydactyly in 1 hand and both feet, thin upper lip, and sacral agenesis).

The infant is born with a birthweight of 2,400 g (2nd percentile), length of 48 cm (27th percentile), and head circumference of 32 cm (6th percentile).

The infant immediately develops respiratory distress and desaturation, requiring a transfer to the NICU with a continuous positive airway pressure of 5 cm H₂O. The fraction of inspired oxygen (Fio₂) is 23. A partial sepsis evaluation is initiated, and …