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

  • Retrospective analysis of 24,702 cases of expanded NIPT.
  • PPVS were 6.45% for RATs and 50% for CNVs.