Efficiency of noninvasive prenatal testing for the detection of fetal microdeletions and microduplications in autosomal chromosomes

Abstract excerpt

BACKGROUND: Noninvasive prenatal testing (NIPT) is commonly used to screen for fetal genetic abnormalities. However, the ability of NIPT to detect copy number variations (CNVs) has not been reported. Accordingly, in this study, we analyzed the efficiency of NIPT for the detection of fetal autosomal CNVs. METHODS: Patients who were positive for autosomal CNVs by NIPT and underwent diagnostic studies by karyotype...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Fetal and Pediatric Neurological Disorders
• Share to Genomic variations and chromosomal abnormalities
• Share to Prenatal Screening and Diagnostics