Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication

• Published in: European journal of medical research Vol. 28; no. 1; pp. 1 - 13
• Main Authors: Tian, Weifang, Yuan, Yangyang, Yuan, Erfeng, Zhang, Linlin, Liu, Ling, Li, Ying, Guo, Jing, Cui, Xueyin, Li, Pengyun, Cui, Shihong
• Format: Journal Article
• Language: English
• Published: London BioMed Central Ltd 30.08.2023; BioMed Central; BMC
• Subjects: Amniocentesis; Amniotic fluid; Birth defects; Chromosomal microarray analysis (CMA); Chromosomes; Comparative analysis; Data analysis; DNA sequencing; Down syndrome; Genetic disorders; Genomes; Genomics; Methods; Microdeletion/microduplication (MMS); Multiple births; NIPT-PLUS; Nucleotide sequencing; Pregnancy; Pregnant women; Rare chromosomal trisomy (RAT); Semiconductors; Sex chromosome aneuploidy (SCA); Software; Statistical analysis; Ultrasonic imaging; Whole genome sequencing; Womens health; Y chromosomes

Background With the development of whole-genome sequencing technology, non-invasive prenatal testing (NIPT) has been applied gradually to screen chromosomal microdeletions and microduplications that cannot be detected by traditional karyotyping. However, in NIPT, some false positives and false negat...