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

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

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

2020

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

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.

Keywords:

cell based
Medicine
Computational biology
Copy-number variation

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