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Review
. 2021;118(4):500-504.
doi: 10.1159/000516030. Epub 2021 May 18.

Diamond-Blackfan Anemia: A Case Report and Review of the Literature

Kaitlyn M Dorn  1 , Kaitlyn D Burns  1   2   3 , Maija A R Trout  1   3   4 , D Isum Ward  2   5 , KayeLyn J Wagner  2   5 , Lauritz R Meyer  2   5 , Michelle L Baack  2   5   6 , Rachel L Rodel  1   4
Affiliations
Review

Diamond-Blackfan Anemia: A Case Report and Review of the Literature

Kaitlyn M Dorn et al. Neonatology. 2021.

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.

Keywords: Congenital bone marrow aplasia; Diamond-Blackfan anemia; Fetal sonography; Radial ray defects; Rapid whole-exome sequencing.

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