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

Abstract

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
• cell‐based noninvasive prenatal testing
• copy number variation
• Noninvasive prenatal testing
• Prader‐Willi syndrome