%0 Case Reports
%T Diamond-Blackfan Anemia: A Case Report and Review of the Literature.
%A Dorn KM
%A Burns KD
%A Trout MAR
%A Ward DI
%A Wagner KJ
%A Meyer LR
%A Baack ML
%A Rodel RL
%J Neonatology
%V 118
%N 4
%D 2021
%M 34004602
%F 5.106
%R 10.1159/000516030
%X 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.