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Abstract：
We report a case of a male neonate delivered urgently via cesarean at thirty-five 5/7 weeks gestation for non-reassuring fetal monitoring who was found to have severe anemia at birth that could not be explained by acute blood loss. He was born to a 24-year-old mother, whose pregnancy was complicated by abnormal ultrasound findings, including a radial ray defect and fetal growth restriction. Trio rapid whole-exome sequencing (rWES) confirmed Diamond-Blackfan anemia in both the neonate and mother. This case highlights the importance of fetal surveillance and the clinical utility of rWES in the neonatal intensive care setting.
摘要：
我们报告了一例男性新生儿在妊娠355/7周时因不放心的胎儿监护而通过剖腹产紧急分娩的病例，该新生儿在出生时被发现患有严重的贫血，无法用急性失血来解释。他出生于一位24岁的母亲，他们的怀孕因超声检查异常而复杂化，包括放射状射线缺陷和胎儿生长受限.Trio快速全外显子组测序（rWES）证实了新生儿和母亲的Diamond-Blackfan贫血。此案例强调了胎儿监测的重要性以及rWES在新生儿重症监护环境中的临床实用性。
