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

doi:10.1002/ccr3.3211

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

Clin Case Rep. 2020 Aug 9;8(12):2561-2567. doi: 10.1002/ccr3.3211. eCollection 2020 Dec.

Authors

Affiliations

¹ ARCEDI Biotech ApS Vejle Denmark.
² Center for Fetal Diagnostics Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark.
³ Department of Women's Disease and Birth Viborg Hospital Viborg Denmark.
⁴ Department of Women's Disease and Birth Aarhus University Hospital Aarhus Denmark.
⁵ Department of Clinical Medicine Aarhus University Aarhus Denmark.

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.

Keywords: 3p deletion; 3p26 deletion; Noninvasive prenatal testing; Prader‐Willi syndrome; cell‐based noninvasive prenatal testing; copy number variation.

Publication types

Case Reports