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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.

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752386/
https://www.ncbi.nlm.nih.gov/pubmed/33363780
http://dx.doi.org/10.1002/ccr3.3211