Diamond-Blackfan Anemia: A Case Report and Review of the Literature.
Neonatology
; 118(4): 500-504, 2021.
Article
de 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.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Anémie de Blackfan-Diamond
Limites:
Adult
/
Female
/
Humans
/
Male
/
Newborn
/
Pregnancy
Langue:
En
Journal:
Neonatology
Sujet du journal:
PERINATOLOGIA
Année:
2021
Type de document:
Article
Pays d'affiliation:
États-Unis d'Amérique