The prevalence of genetic diagnoses in fetuses with severe congenital heart defects

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 genet...

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Detalles Bibliográficos
Autores principales: van Nisselrooij, Amber E. L., Lugthart, Malou A., Clur, Sally-Ann, Linskens, Ingeborg H., Pajkrt, Eva, Rammeloo, Lukas A., Rozendaal, Lieke, Blom, Nico A., van Lith, Jan M. M., Knegt, Alida C., Hoffer, Mariëtte J. V., Aten, Emmelien, Santen, Gijs W. E., Haak, Monique C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332415/
https://www.ncbi.nlm.nih.gov/pubmed/32341573
http://dx.doi.org/10.1038/s41436-020-0791-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332415/
https://www.ncbi.nlm.nih.gov/pubmed/32341573
http://dx.doi.org/10.1038/s41436-020-0791-8

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