Shuyun Pang

Application of CNV-seq combined with chromosome karyotyping in prenatal diagnosis of pregnant women with high-risk NIPT results

Non-invasive prenatal testing (NIPT), which utilizes fetal cell-free DNA (cffDNA) in maternal peripheral blood to assess the risk of fetal chromosomal abnormalities, has been widely used for prenatal screening. Chromosome karyotyping and low-depth whole-genome copy number variati...