Perinatal outcomes following cell-free DNA screening in >32 000 women: Clinical follow-up data from a single tertiary center20180301020659

Perinatal outcomes following cell-free DNA screening in >32 000 women: Clinical follow-up data from a single tertiary center

Liang D, Lin Y, Qiao F, et al. Prenat Diagn. 2018;38(10):755-764. doi:10.1002/pd.5328. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2018, China, RAAs, CNVs

  • This publication retrospectively reviewed the follow-up information from 32,431 cases at a single tertiary care center offering Expanded NIPT.
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study20180131020044

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

Van Opstal D, van Maarle MC, Lichtenbelt K, et al. Genet Med. 2018;20(5):480-485. doi:10.1038/gim.2017.132. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2018, Netherlands, RAAs, CNVs

  • This publication demonstrated the potential clinical utility of detecting chromosome anomalies other than the common aneuploidies using Expanded NIPT. In this study population, 1.6% of the cases undergoing Expanded NIPT were screen positive for a rare chromosome anomaly that was either a rare autosomal trisomy or a large partial deletion/duplication. Of these cases, 60% were associated with an adverse pregnancy outcome, including abnormal fetal phenotype and intrauterine growth restriction.
Rare autosomal trisomies: Important and not so rare. Prenat Diagn20180101020223

Rare autosomal trisomies: Important and not so rare. Prenat Diagn

Scott F, Bonifacio M, Sandow R, Ellis K, Smet ME, McLennan A. 2018;38(10):765-771. doi:10.1002/pd.5325. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2018, Australia, RAAs

  • This publication demonstrated the importance of screening all autosomes using NIPT. Of the cases analyzed, 1/835 (0.12%) were identified to have a rare autosomal trisomy. Of these cases, 68% were associated with adverse outcomes, that included pregnancy loss, prematurity, true fetal mosaicism, growth restriction, and fetal structural anomalies.