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

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

Abstract 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.

Bibliographic Details
Main Authors: Lotte Hatt, Ripudaman Singh, Rikke Christensen, Katarina Ravn, Inga B Christensen, Line Dahl Jeppesen, Bolette Hestbek Nicolaisen, Mathias Kølvraa, Palle Schelde, Lotte Andreassen, Richard Farlie, Niels Uldbjerg, Ida Vogel
Format: Article
Language:English
Published: Wiley 2020-12-01
Series:Clinical Case Reports
Subjects:
3p deletion
3p26 deletion
cell‐based noninvasive prenatal testing
copy number variation
Noninvasive prenatal testing
Prader‐Willi syndrome
Online Access:https://doi.org/10.1002/ccr3.3211

Internet

https://doi.org/10.1002/ccr3.3211

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