ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 2 of them syntheses that pooled it.
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Who cites it
53 citing papers in PubMed, 2 syntheses or guidelines pooled it, 125 citations in OpenAlex.
- Pooled it
- Pooled it
- Incidental Detection of Diffuse Large B-cell Lymphoma by Non-invasive Prenatal Testing: A Case Report.Cureus · 2026Article
- Residual risk of clinically significant copy number variations in fetuses with ultrasonographic soft markers following exclusion of non-invasive prenatal screening-detectable findings.Archives of gynecology and obstetrics · 2026Article
- Concordance between genome-wide cfDNA screening and diagnostic test results for large copy-number variants: a multi-site study from the Global Expanded NIPT Consortium.Frontiers in genetics · 2026Article
- Clinical performance of expanded non-invasive prenatal testing for aneuploidies: a real-world experience in Thailand.BMC pregnancy and childbirth · 2025Article
- Article
- Society for Maternal-Fetal Medicine Consult Series #74: Cell-free DNA screening for aneuploidies: Updated guidance.Pregnancy (Hoboken, N.J.) · 2025Article
- Expanding the scope of non-invasive prenatal screening.Nature genetics · 2025Review
- Evaluation of the prenatal diagnostic value of non-invasive prenatal testing for the detection of rare fetal autosomal trisomies: a single center study of 83,842 cases.Scientific reports · 2025Article
- Determining the origin of genome aberrations improves the positive predictive value of NIPT for 22q11.2 deletion syndrome.Scientific reports · 2025Article
- Rethinking the Burden of Traditional Informed Consent Prior to Prenatal Genetic Screening.The Hastings Center report · 2025Article
- Healthcare professionals' experiences with expanded noninvasive prenatal screening: challenges and solutions.Journal of community genetics · 2025Article
- Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease.Scientific reports · 2025Article
- Cost-effectiveness of different screening strategies for Down syndrome: a real-world analysis in 140,472 women.Frontiers in public health · 2025Article
- Performance and clinical implications of non-invasive prenatal testing for rare chromosomal abnormalities: a retrospective study of 94,125 cases.Frontiers in molecular biosciences · 2025Article
- Incidental Diagnosis of Occult Maternal Malignancy With Routine Noninvasive Prenatal Testing During Pregnancy.Cureus · 2024Article
- Clinical strategy study on prenatal screening and diagnostic model for Down syndrome.Scientific reports · 2024Article
- Prenatal Screening of Chromosomal Anomalies Using Genome-Wide or Target Cell-Free DNA: Preferences and Satisfaction of Pregnant Women.Journal of clinical medicine · 2024Article
- Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose?BMC pregnancy and childbirth · 2024Article
Corrections and comments
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Authors and funding
32 authors at 10 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeNoninvasive prenatal screening (NIPS) using cell-free DNA has transformed prenatal care. Belgium was the first country to implement and fully reimburse NIPS as a first-tier screening test offered to all pregnant women. A consortium consisting of all Belgian genetic centers report the outcome of two years genome-wide NIPS implementation.
methodsThe performance for the common trisomies and for secondary findings was evaluated based on 153,575 genome-wide NIP tests. Furthermore, the evolution of the number of invasive tests and the incidence of Down syndrome live births was registered.
resultsTrisomies 21, 18, and 13 were detected in respectively 0.32%, 0.07%, and 0.06% of cases, with overall positive predictive values (PPVs) of 92.4%, 84.6%, and 43.9%. Rare autosomal trisomies and fetal segmental imbalances were detected in respectively 0.23% and 0.07% of cases with PPVs of 4.1% and 47%. The number of invasive obstetric procedures decreased by 52%. The number of trisomy 21 live births dropped to 0.04%.
conclusionExpanding the scope of NIPS beyond trisomy 21 fetal screening allows the implementation of personalized genomic medicine for the obstetric population. This genome-wide NIPS approach has been embedded successfully in prenatal genetic care in Belgium and might serve as a framework for other countries offering NIPS.
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