Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
Van Den Bogaert K, Lannoo L, Brison N, et al. Genet Med. 2021;23(6):1137-1142. doi:10.1038/s41436-021-01101-4. Open Access: Learn more
Tags: Clinical Experience / Clinical Utility, 2021, Belgium, RAAs, CNVs
- Belgium was the first country to implement and fully reimburse NIPT as a first-tier screening for all pregnant women. In this publication, a consortium comprised of all the Belgian genetic center reports on the clinical experience during a 2-year period of offering Expanded NIPT as a first-tier testing option for all pregnant women. Of the 153,575 pregnancies screened, rare autosomal trisomies and partial deletions/duplications were found in 0.23% and 0.07% of cases, respectively. Invasive diagnostic obstetric procedures decreased by 52%. The authors conclude that their Expanded NIPT approach has been successfully implemented into prenatal care in Belgium and could possibly act as a framework for other countries offering NIPT.
Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies
Kleinfinger P, Lohmann L, Luscan A, et al. J Clin Med. 2020;9(8):2466. Published 2020 Aug 1. doi:10.3390/jcm9082466. Open Access: Learn more
Tags: Laboratory Performance / Laboratory Experience, 2020, France, RAAs, CNVs
- This publication recognizes that fetal chromosome anomalies beyond the common aneuploidies occur more frequently than previously thought and subsequently can impact fetal development. As such, the authors propose a screening strategy for Expanded NIPT to detect chromosome anomalies beyond the common trisomies. Results showed that Expanded NIPT can screen for rare autosomal aneuploidies and partial deletions/duplications with an acceptable sensitivity and a small increase in the rate of invasive testing.
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.
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 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 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.
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.