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Fetal cerebral hemorrhage due to X‐linked GATA1 gene mutation
Author(s) -
Bouchghoul Hanane,
Quelin Chloé,
Loget Philippe,
EnchaRazavi Féréchté,
Senat MarieVictoire,
Maheut Lorraine,
Galimand Julie,
CollardeauFrachon Sophie,
Da Costa Lydie,
Martinovic Jelena
Publication year - 2018
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5320
Subject(s) - gata1 , fetus , mutation , phenotype , exon , gestation , medicine , hydrops fetalis , intracerebral hemorrhage , prenatal diagnosis , biology , genetics , gene , pregnancy , gene expression , subarachnoid hemorrhage
We report a multiplex family with a GATA1 gene mutation responsible for a massive fetal cerebral hemorrhage occurring at 36 weeks. Two other stillbirth cousins presented with fetal hydrops and congenital hemochromatosis' phenotype at 37 and 12 weeks of gestation. Molecular screening revealed the presence of a c.613G>A pathogenic allelic variation in exon 4 of GATA1 gene in the 3 male siblings and their carrier mothers. The diagnosis of a GATA1 gene mutation may be suspected in cases of male fetuses with intracerebral bleeding, particularly if a history of prior fetal loss(es) and mild maternal thrombocytopenia are also present.