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.


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