Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease

Pertile MD, Halks-Miller M, Flowers N, et al. Sci Transl Med. 2017;9(405):eaan1240. doi:10.1126/scitranslmed.aan1240. Open Access: Learn more

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.