{Reference Type}: Case Reports
{Title}: Diamond-Blackfan Anemia: A Case Report and Review of the Literature.
{Author}: Dorn KM;Burns KD;Trout MAR;Ward DI;Wagner KJ;Meyer LR;Baack ML;Rodel RL;
{Journal}: Neonatology
{Volume}: 118
{Issue}: 4
{Year}: 2021
{Factor}: 5.106
{DOI}: 10.1159/000516030
{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.