Expanded NIPT Publications*
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
van der Meij KRM, Sistermans EA, Macville MVE, et al. Am J Hum Genet. 2019;105(6):1091-1101. doi:10.1016/j.ajhg.2019.10.005. Open Access: Learn more
Tags: Clinical Experience / Clinical Utility, 2019, Netherlands, RAAs, CNVs
- This publication describes results from a nationwide implementation study in the Netherlands that examined the use of NIPT as a first-tier test offered to all pregnant women, with the option to have findings beyond trisomies 21, 18, and 13 reported based on patient request. 78% of pregnant women chose to have these additional findings reported to them.
Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low-pass whole-genome sequencing
Yu D, Zhang K, Han M, et al. Mol Genet Genomic Med. 2019;7(6):e674. doi:10.1002/mgg3.674. Open Access: Learn more
Tags: Laboratory Performance / Laboratory Experience, 2019, China, RAAs, CNVs
- This publication reports on the development and evaluation of a low-pass whole genome sequencing assay for the detection of fetal CNVs and chromosomal aneuploidies in 20,003 pregnant women.
Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes
Liang D, Cram DS, Tan H, et al. Genet Med. 2019;21(9):1998-2006. doi:10.1038/s41436-019-0467-4. Open Access: Learn more
Tags: Clinical Experience / Clinical Utility, 2019, China, RAAs, CNVs
- This publication examined the clinical performance of Expanded NIPT for both aneuploidy and genome-wide microdeletion/microduplication syndromes in an all-risk pregnancy population. A cohort of 94,085 patients with singleton pregnancies were prospectively enrolled. This Expanded NIPT detected a clinically significant fetal chromosome abnormality in 1.2% of samples and calculated the respective PPVs for the screen positive abnormalities.
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.