SynthesisBMJ open2016
Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis.
Synthesis in BMJ open, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 145 papers, 7 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
145 citing papers in PubMed, 7 syntheses or guidelines pooled it, 417 citations in OpenAlex.
- Quality of Evidence for Prenatal Down Syndrome Screening: An Umbrella Review.Prenatal diagnosis · 2026Pooled it
- Potential efficacy of digital polymerase chain reaction for non-invasive prenatal screening of autosomal aneuploidies: a systematic review and meta-analysis.BMC pregnancy and childbirth · 2024Pooled it
- A systematic review and meta-analysis of cell-free DNA testing for detection of fetal sex chromosome aneuploidy.Prenatal diagnosis · 2023Pooled it
- Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine: (1) Prenatal Aneuploidy Screening.Journal of Korean medical science · 2021Guideline
- Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Pooled it
- Cost-effectiveness of cell-free DNA in maternal blood testing for prenatal detection of trisomy 21, 18 and 13: a systematic review.The European journal of health economics : HEPAC : health economics in prevention and care · 2018Pooled it
- Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.The Cochrane database of systematic reviews · 2017Pooled it
- Effects of an animated educational video on knowledge of cell-free DNA screening among Thai pregnant women: a randomized control trial.BMC pregnancy and childbirth · 2023Trial
- False negativity for trisomy 18 in non-invasive prenatal testing: A case report.Case reports in women's health · 2026Article
- A Fetal Fraction Optimized 106-Plex Digital PCR Assay for Non-Invasive Prenatal Testing of Fetal Trisomy.Diagnostics (Basel, Switzerland) · 2026Article
- Balancing How Much We Want to Know with What We Are Willing to Pay: A Comparative Cost Analysis of Prenatal Cytogenetic Testing and Screening Strategies.Fetal diagnosis and therapy · 2026Article
- Improved positive predictive value of non-invasive prenatal testing through integration with second-trimester ultrasound soft markers for fetal chromosomal abnormalities: a retrospective cohort study.Frontiers in endocrinology · 2026Article
- Non-invasive prenatal diagnosis of beta-thalassemia disease using digital PCR.Frontiers in medicine · 2026Article
- Clinical performance of expanded non-invasive prenatal testing for aneuploidies: a real-world experience in Thailand.BMC pregnancy and childbirth · 2025Article
- Using the Fluorescence In Situ Hybridization in the Diagnosis of Trisomy 13 in a Male Newborn From Mali.Clinical case reports · 2025Article
- Outcomes of pregnancies that screened positive for sex chromosome aneuploidy ascertained via cell-free DNA screening.Journal of genetic counseling · 2025Article
- Comparing the Introduction and Implementation of Noninvasive Prenatal Testing (NIPT) in Japan, the Netherlands, and the United States: An Integrative Review.Prenatal diagnosis · 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
- Article
- Implementation of circulating cell-free DNA screening for fetal aneuploidies.Advances in laboratory medicine · 2025Article
85 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveTo measure test accuracy of non-invasive prenatal testing (NIPT) for Down, Edwards and Patau syndromes using cell-free fetal DNA and identify factors affecting accuracy.
designSystematic review and meta-analysis of published studies. DATA SOURCES: PubMed, Ovid Medline, Ovid Embase and the Cochrane Library published from 1997 to 9 February 2015, followed by weekly autoalerts until 1 April 2015. ELIGIBILITY CRITERIA FOR SELECTING STUDIES: English language journal articles describing case-control studies with ≥ 15 trisomy cases or cohort studies with ≥ 50 pregnant women who had been given NIPT and a reference standard.
results41, 37 and 30 studies of 2012 publications retrieved were included in the review for Down, Edwards and Patau syndromes. Quality appraisal identified high risk of bias in included studies, funnel plots showed evidence of publication bias. Pooled sensitivity was 99.3% (95% CI 98.9% to 99.6%) for Down, 97.4% (95.8% to 98.4%) for Edwards, and 97.4% (86.1% to 99.6%) for Patau syndrome. The pooled specificity was 99.9% (99.9% to 100%) for all three trisomies. In 100,000 pregnancies in the general obstetric population we would expect 417, 89 and 40 cases of Downs, Edwards and Patau syndromes to be detected by NIPT, with 94, 154 and 42 false positive results. Sensitivity was lower in twin than singleton pregnancies, reduced by 9% for Down, 28% for Edwards and 22% for Patau syndrome. Pooled sensitivity was also lower in the first trimester of pregnancy, in studies in the general obstetric population, and in cohort studies with consecutive enrolment.
conclusionsNIPT using cell-free fetal DNA has very high sensitivity and specificity for Down syndrome, with slightly lower sensitivity for Edwards and Patau syndrome. However, it is not 100% accurate and should not be used as a final diagnosis for positive cases. TRIAL REGISTRATION NUMBER: CRD42014014947.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.