Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications

Abstract excerpt

Noninvasive prenatal testing (NIPT) using whole genome and targeted sequencing has become increasingly accepted for clinical detection of Trisomy 21 and sex chromosome aneuploidies. Few studies have shown that sub-chromosomal deletions or duplications associated with genetic syndromes can also be detected in the fetus noninvasively. There are still limitations on these methodologies such as the detection of...

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