Diamond-Blackfan anemia: A case report and review of the literature

Kaitlyn M. Dorn, Kaitlyn D. Burns, Maija A.R. Trout, D. Isum Ward, Kayelyn J. Wagner, Lauritz R. Meyer, Michelle L. Baack, Rachel L. Rodel

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)500-504
Number of pages5
JournalNeonatology
Volume118
Issue number4
DOIs
StatePublished - Aug 1 2021

Keywords

  • Congenital bone marrow aplasia
  • Diamond-Blackfan anemia
  • Fetal sonography
  • Radial ray defects
  • Rapid whole-exome sequencing

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Biology

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