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.