The prevalence of genetic diagnoses in fetuses with severe congenital heart defects
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects
About this item
Full title
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Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
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Scope and Contents
Contents
Purpose
Congenital heart defects (CHD) are associated with genetic syndromes. Rapid aneuploidy testing and chromosome microarray analysis (CMA) are standard care in fetal CHD. Many genetic syndromes remain undetected with these tests. This cohort study aims to estimate the frequency of causal genetic variants, in particular structural chromosome...
Alternative Titles
Full title
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7332415
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7332415
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-020-0791-8
