Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations.20201130175249

Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations.

Flowers NJ, Burgess T, Giouzeppos O, et al. Genet Med. 2020;22(12):1944-1955. doi:10.1038/s41436-020-0930-2. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2020, Australia, CNVs

  • This pilot series comprises a retrospective analysis of GW-NIPS and clinical outcome data from 42 singleton pregnancies where one parent carried a balanced reciprocal translocation. GW-NIPS was performed between August 2015 and March 2018. Inclusion criteria required at least one translocation segment to be ≥15 Mb in size.
  • “Forty samples (95%) returned an informative result; 7 pregnancies (17.5%) were high risk for an unbalanced translocation and confirmed after diagnostic testing. The remaining 33 informative samples were low risk and confirmed after diagnostic testing or normal newborn physical exam. Test sensitivity of 100% (95% confidence interval [CI]: 64.6-100%) and specificity of 100% (95% CI: 89.6-100%) were observed for this pilot series.”
  • “We demonstrate that GW-NIPS is a potential option for a majority of reciprocal translocation carriers. Further confirmation of this methodology could lead to adoption of this noninvasive alternative.”
Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies20200801020504

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.