Expanded NIPT Publications*

Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases.

Ge Y, Li J, Zhuang J, et al. BMC Med Genomics. 2021;14(1):106. Published 2021 Apr 14. doi:10.1186/s12920-021-00955-6. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2021, China, RAAs, CNVs

cfDNA: cell-free DNA

CMA: chromosomal microarray

CNV: copy number variation (also referred to as partial deletions/partial duplications or segmental imbalances)

CPM: confined placental mosaicism

GW: genome-wide

PPV: positive predictive value

RAA: rare autosomal aneuploidy

RAT: rare autosomal trisomy

SCA: sex chromosome aneuploidy

UPD: uniparental disomy

*This list of publications was last updated in October 2023 and is not intended to be a comprehensive list of all publications on Expanded NIPT.