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

doi:10.1159/000516030

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

Great Plains IDeA-CTR

Research output: Contribution to journal › Review article › peer-review

2 Scopus citations

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 language	English (US)
Pages (from-to)	500-504
Number of pages	5
Journal	Neonatology
Volume	118
Issue number	4
DOIs	https://doi.org/10.1159/000516030
State	Published - 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

Access to Document

10.1159/000516030

Cite this

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title = "Diamond-Blackfan anemia: A case report and review of the literature",

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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AU - Dorn, Kaitlyn M.

AU - Burns, Kaitlyn D.

AU - Trout, Maija A.R.

AU - Ward, D. Isum

AU - Wagner, Kayelyn J.

AU - Meyer, Lauritz R.

AU - Baack, Michelle L.

AU - Rodel, Rachel L.

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AB - 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.

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KW - Fetal sonography

KW - Radial ray defects

KW - Rapid whole-exome sequencing

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

Abstract

Keywords

ASJC Scopus subject areas

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