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Diamond-Blackfan Anemia: A Case Report and Review of the Literature.
Dorn, Kaitlyn M; Burns, Kaitlyn D; Trout, Maija A R; Ward, D Isum; Wagner, KayeLyn J; Meyer, Lauritz R; Baack, Michelle L; Rodel, Rachel L.
Affiliation
  • Dorn KM; Department of Obstetrics and Gynecology, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota, USA.
  • Burns KD; Department of Obstetrics and Gynecology, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota, USA.
  • Trout MAR; Sanford Children's Specialty Clinic, Sanford USD Medical Center, Sioux Falls, South Dakota, USA.
  • Ward DI; Department of Genetics, Augustana University, Sioux Falls, South Dakota, USA.
  • Wagner KJ; Department of Obstetrics and Gynecology, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota, USA.
  • Meyer LR; Department of Genetics, Augustana University, Sioux Falls, South Dakota, USA.
  • Baack ML; Department of Obstetrics and Gynecology, Sanford USD Medical Center, Sioux Falls, South Dakota, USA.
  • Rodel RL; Sanford Children's Specialty Clinic, Sanford USD Medical Center, Sioux Falls, South Dakota, USA.
Neonatology ; 118(4): 500-504, 2021.
Article in En | MEDLINE | ID: mdl-34004602
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Anemia, Diamond-Blackfan Limits: Adult / Female / Humans / Male / Newborn / Pregnancy Language: En Journal: Neonatology Journal subject: PERINATOLOGIA Year: 2021 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Anemia, Diamond-Blackfan Limits: Adult / Female / Humans / Male / Newborn / Pregnancy Language: En Journal: Neonatology Journal subject: PERINATOLOGIA Year: 2021 Document type: Article Affiliation country: