Maternal Copy Number Imbalances in Non-Invasive Prenatal Testing: Do They Matter?

ABSTRACT: Non-invasive prenatal testing (NIPT) has become a routine practice in screening for common aneuploidies of chromosomes 21, 18, and 13 and gonosomes X and Y in fetuses worldwide since 2015 and has even expanded to include smaller subchromosomal events. In fact, the fetal fraction represents only a small proportion of cell-free DNA on a predominant background of maternal DNA. Unlike fetal findings that have to be confirmed using invasive testing, it has been well documented that NIPT provides information on maternal mosaicism, occult malignancies, and hidden health conditions due to copy number variations (CNVs) with diagnostic resolution. Although large duplications or deletions associated with certain medical conditions or syndromes are usually well recognized and easy to interpret, very l

SUBMITTER: Hyblova M 

PROVIDER: S-EPMC9777446 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature