Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations

In two cases, cell‐based noninvasive prenatal testing (cbNIPT) detected pathogenic copy number variations (CNVs) in the fetal genome. cbNIPT may potentially be an improved noninvasive alternative for the detection of smaller CNVs.

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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Hatt, Lotte, Singh, Ripudaman, Christensen, Rikke, Ravn, Katarina, Christensen, Inga B, Jeppesen, Line Dahl, Nicolaisen, Bolette Hestbek, Kølvraa, Mathias, Schelde, Palle, Andreassen, Lotte, Farlie, Richard, Uldbjerg, Niels, Vogel, Ida
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7752386/
https://ncbi.nlm.nih.gov/pubmed/33363780
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3211
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