A system-based approach to the genetic etiologies of non-immune hydrops fetalis.
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
08 2019
08 2019
Historique:
received:
23
02
2019
revised:
11
04
2019
accepted:
09
05
2019
pubmed:
16
5
2019
medline:
26
6
2020
entrez:
16
5
2019
Statut:
ppublish
Résumé
A wide spectrum of genetic causes may lead to nonimmune hydrops fetalis (NIHF), and a thorough phenotypic and genetic evaluation are essential to determine the underlying etiology, optimally manage these pregnancies, and inform discussions about anticipated prognosis. In this review, we outline the known genetic etiologies of NIHF by fetal organ system affected, and provide a systematic approach to the evaluation of NIHF. Some of the underlying genetic disorders are associated with characteristic phenotypic features that may be seen on prenatal ultrasound, such as hepatomegaly with lysosomal storage disorders, hyperechoic kidneys with congenital nephrosis, or pulmonary valve stenosis with RASopathies. However, this is not always the case, and the approach to evaluation must include prenatal ultrasound findings as well as genetic testing and many other factors. Genetic testing that has been utilized for NIHF ranges from standard chromosomal microarray or karyotype to gene panels and broad approaches such as whole exome sequencing. Family and obstetric history, as well as pathology examination, can yield additional clues that are helpful in establishing a diagnosis. A systematic approach to evaluation can guide a more targeted approach to genetic evaluation, diagnosis, and management of NIHF.
Identifiants
pubmed: 31087399
doi: 10.1002/pd.5479
pmc: PMC6699893
mid: NIHMS1030142
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
732-750Subventions
Organisme : NICHD NIH HHS
ID : K12 HD001262
Pays : United States
Organisme : NIH HHS
ID : 5K12HD001262-18
Pays : United States
Informations de copyright
© 2019 John Wiley & Sons, Ltd.
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