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.”

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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.

The post Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies appeared first on Global NIPT Consortium.