The application of expanded noninvasive prenatal screening for genome-wide chromosomal abnormalities and genetic counseling.

Chen Y, Lai Y, Xu F, et al. J Matern Fetal Neonatal Med. 2021;34(16):2710-2716. doi:10.1080/14767058.2021.1907333. Open Access: Learn more

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

  • Study of 34,620 women with singleton pregnancies who underwent GW-NIPT.
  • PPVs were 70.06% for common trisomies, 40.22% for SCAs, 5.45% for other autosomal aneuploidies (of which T7, T8, T16, and T22 were the most frequent), and 51.22% for CNVs >5 Mb (with CNVs mostly detected on chromosomes 2, 4, 5, and 7).