A preterm girl is born to a 38-year-old gravida 3 para 2 mother at 36 6/7 weeks’ estimated gestational age (EGA) via cesarean delivery due to worsening placental insufficiency. Apgar scores are 3 and 8 at 1 and 5 minutes, respectively. Pregnancy was complicated by advanced maternal age, suspected trisomy 21 (confirmed postnatally), fetal growth restriction, complete atrioventricular canal defect, and enlarged liver noted on fetal ultrasonography at 34 weeks’ EGA.
At birth, she initially required positive pressure ventilation but quickly transitioned to continuous positive airway pressure. Physical examination reveals a small-for-gestational age (6th percentile) newborn with upward slanting eyes, low-set ears, lungs clear to auscultation bilaterally, heart with regular rate and rhythm, III/VI harsh systolic murmur heard throughout the precordium, and palpable hepatomegaly 4 cm below the right costal margin. Abdominal ultrasonography confirms hepatomegaly, and cranial ultrasonography is normal.
She has multiple laboratory abnormalities, with significant metabolic acidosis and...
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