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.