Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis

BACKGROUND: The cause of most fetal anomalies is not determined prenatally. Exome sequencing has transformed genetic diagnosis after birth, but its usefulness for prenatal diagnosis is still emerging. Nonimmune hydrops fetalis (NIHF), a fetal abnormality that is often lethal, has numerous genetic ca...

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Detalhes bibliográficos
Publicado no:N Engl J Med
Main Authors: Sparks, Teresa N., Lianoglou, Billie R., Adami, Rebecca R., Pluym, Ilina D., Holliman, Kerry, Duffy, Jennifer, Downum, Sarah L., Patel, Sachi, Faubel, Amanda, Boe, Nina M., Field, Nancy T., Murphy, Aisling, Laurent, Louise C., Jolley, Jennifer, Uy, Cherry, Slavotinek, Anne M., Devine, Patrick, Hodoglugil, Ugur, Van Ziffle, Jessica, Sanders, Stephan J., MacKenzie, Tippi C., Norton, Mary E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7650529/
https://ncbi.nlm.nih.gov/pubmed/33027564
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa2023643
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