Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies

Kleinfinger P, Lohmann L, Luscan A, et al. J Clin Med. 2020;9(8):2466. Published 2020 Aug 1. doi:10.3390/jcm9082466. Open Access: Learn more

Tags: Laboratory Performance / Laboratory Experience, 2020, France, RAAs, CNVs

  • This publication recognizes that fetal chromosome anomalies beyond the common aneuploidies occur more frequently than previously thought and subsequently can impact fetal development. As such, the authors propose a screening strategy for Expanded NIPT to detect chromosome anomalies beyond the common trisomies. Results showed that Expanded NIPT can screen for rare autosomal aneuploidies and partial deletions/duplications with an acceptable sensitivity and a small increase in the rate of invasive testing.