Tags: Clinical Experience / Clinical Utility, 2017, Italy, RAAs, CNVs

• This publication examined the test performance of NIPT for the common aneuploidies compared to that of Expanded NIPT. Expanded NIPT detected 7.4% potentially viable clinically relevant chromosome abnormalities that would have not been detected if NIPT was limited to the common aneuploidies, which resulted in a statistically significant higher sensitivity than did non-Expanded NIPT without a statistically significant impact on specificity.

The post The clinical utility of genome-wide non invasive prenatal screening appeared first on Global NIPT Consortium.

Tags: Laboratory Performance / Laboratory Experience, Clinical Experience / Clinical Utility, 2017, International, RAAs

• Rare autosomal trisomies are frequently associated with adverse pregnancy outcomes. In this publication, Expanded NIPT data from 89,817 unique pregnancies were analyzed to identify the prevalence of rare autosomal trisomies and partial deletions/duplications, as well as to study the clinical value of such screening. In the study population, 0.44% had chromosome abnormalities (0.34% rare autosomal trisomies and 0.10% partial deletions/duplications); in these cases, 75% had clinical outcomes associated with relevant feto-maternal adverse outcomes.

The post Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease appeared first on Global NIPT Consortium.