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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Dades bibliogràfiques
Publicat a:Clin Case Rep
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2020
Matèries:
Case Reports
Accés en línia: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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