Prenatal Copy Number Variant (CNV) Detection by sequencing - Microarray

This prenatal diagnostic test is designed to identify clinically relevant copy number variations (CNVs), such as chromosomal deletions and duplications, using targeted next-generation sequencing (NGS) technology.

By analyzing read-depth data across targeted genomic regions, this test enables sensitive and accurate detection of submicroscopic chromosomal imbalances that may not be detected by conventional karyotyping. It is performed on prenatal specimens such as amniotic fluid or chorionic villus samples (CVS).

This test is particularly indicated in pregnancies with abnormal ultrasound findings, positive prenatal screening results, a known family history of genetic conditions, or increased genetic risk. The results assist clinicians and genetic counselors in diagnosis,risk assessment, and prenatal management decisions