遗传性球形红细胞增多症：从产前检测到新生儿管理的病例系列

原文

OBJECTIVE: We aim to expand the prenatal phenotypic spectrum of hereditary spherocytosis (HS). METHOD: We reviewed four pregnancies at risk for or suspected of having HS. Prenatal ultrasound, middle cerebral artery (MCA) Doppler surveillance, genetic testing, and neonatal outcomes were evaluated. RESULTS: Case 1 involved a fetus with a homozygous variant in SPTA1 with severe fetal anemia and nonimmune hydrops fetalis resulting in fetal demise. Case 2 involved a mother with a heterozygous ANK1 variant. Fetal anemia and polyhydramnios prompted close prenatal surveillance, and the infant required four red cell transfusions. The mother of Case 3 had a heterozygous SPTB variant. Although fetal surveillance was reassuring, the neonate required quintuple phototherapy. Case 4 involved a mother with a heterozygous SPTB variant and a family history of neonatal bilirubin toxicity. Fetal surveillance was unremarkable, and the neonate had no hematologic complications. CONCLUSIONS: This series illustrates the diverse courses of pregnancies at risk of HS. While MCA Doppler ultrasound is a valuable surveillance tool to identify fetal anemia, our findings suggest that MCA Doppler values alone may not reliably predict postnatal severity. In pregnancies at risk of HS, consideration of maternal and family history, genetic evaluation, and serial surveillance remains essential for prenatal counseling and perinatal planning.