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Neonatology ; 118(4): 500-504, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34004602

RESUMO

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.


Assuntos
Anemia de Diamond-Blackfan , Anemia de Diamond-Blackfan/genética , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Sequenciamento do Exoma , Adulto Jovem
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