Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies20190131020850
Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies
Xue Y, Zhao G, Li H, et al. Mol Cytogenet. 2019;12:29. Published 2019 Jun 20. doi:10.1186/s13039-019-0441-5. Open Access: Learn more
Tags: Laboratory Performance / Laboratory Experience, 2019, China, RAAs
- This publication retrospectively examined the performance of Expanded NIPT for all chromosome aneuploidies in 57,204 pregnancies from the Suzhou area of China and highlighted potential biological reasons for discordant results.
Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease20170101020140
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.