Utility of chromosomal microarray for diagnosis in cases of nonimmune hydrops fetalis.
Adolescent
Adult
Chromosome Disorders
/ complications
Cohort Studies
Congenital Abnormalities
/ genetics
Down Syndrome
/ complications
Female
Humans
Hydrops Fetalis
/ etiology
Karyotyping
/ methods
Microarray Analysis
/ methods
Middle Aged
Pregnancy
Retrospective Studies
Turner Syndrome
/ complications
Ultrasonography, Prenatal
Young Adult
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
03 2020
03 2020
Historique:
received:
29
05
2019
revised:
26
08
2019
accepted:
11
10
2019
pubmed:
26
1
2020
medline:
25
3
2021
entrez:
26
1
2020
Statut:
ppublish
Résumé
Chromosomal microarray (CMA) is recommended in the diagnostic evaluation of cases with fetal structural anomalies when invasive testing is pursued. However, the utility of CMA for nonimmune hydrops fetalis (NIHF) specifically is not well known. Our objective was to describe the overall yield of CMA in the diagnostic evaluation of NIHF, comparing isolated cases to those with concurrent structural anomalies. This was a retrospective cohort study of all prenatally diagnosed NIHF cases evaluated at the University of California, San Francisco from 2008 to 2018. NIHF due to twin-twin transfusion syndrome was excluded. There were 131 cases of prenatally diagnosed NIHF. In 43/44 cases with a CMA performed, results were categorized as normal or likely benign. One case was found on CMA to have a large pathogenic duplication of 21p11.2q22.3, which could have been detected by karyotype and was consistent with a diagnosis of Down syndrome. There was no incremental yield demonstrated for CMA over karyotype. Among a cohort of prenatally diagnosed NIHF cases, CMA did not identify any copy number variants beyond those detectable by karyotype, and the vast majority of CMAs were normal. These results suggest that CMA has low diagnostic utility for NIHF.
Identifiants
pubmed: 31981373
doi: 10.1002/pd.5617
pmc: PMC7153803
mid: NIHMS1565597
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
492-496Subventions
Organisme : NICHD NIH HHS
ID : K12 HD001262
Pays : United States
Informations de copyright
© 2020 John Wiley & Sons, Ltd.
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