ArticleMolecular cytogenetics2022
False-positives and false-negatives in non-invasive prenatal testing (NIPT): what can we learn from a meta-analyses on > 750,000 tests?
Article in Molecular cytogenetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 49 citations in OpenAlex.
- Reappraising the topology of cell-free fetal DNA in maternal blood toward improved prenatal genetic diagnostics.Science advances · 2026Review
- False negativity for trisomy 18 in non-invasive prenatal testing: A case report.Case reports in women's health · 2026Article
- Early Pregnancy Immune Signatures May Distinguish Aneuploid Miscarriage from Euploid Pregnancy Loss and Live Birth.International journal of molecular sciences · 2026Article
- Application of chromosomal microarray analysis for fetuses with nasal bone agenesis or hypoplasia.Molecular cytogenetics · 2026Article
- Clinical Implications and Limitations of Noninvasive Prenatal Testing for Detecting Fetal Copy Number Variations: A Multicenter Study in Shaanxi Province, China.Medical science monitor : international medical journal of experimental and clinical research · 2026Observational
- The Meaning of Screening: Exploring user experience of an aneuploidy screening educational game.Journal of genetic counseling · 2026Article
- Chromosomal structural abnormalities and tissue-specific mosaicism: insights into false-negative noninvasive prenatal testing.Frontiers in genetics · 2026Article
- Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis.The application of clinical genetics · 2026Article
- A retrospective analysis of 6942 amniocentesis cases.BMC pregnancy and childbirth · 2025Article
- Australian Preferences for Prenatal Screening: A Discrete Choice Experiment Comparing Metropolitan and Rural/Regional Areas.Applied health economics and health policy · 2025Article
- Non-Invasive Prenatal Screening for Down Syndrome: A Review of Mass-Spectrometry-Based Approaches.Life (Basel, Switzerland) · 2025Review
- Strategies to Detect Chromosomal Anomalies Not Identified by NIPT.Prenatal diagnosis · 2025Article
- Micrognathia as a Diagnosis Marker for the Prenatal Identification of Edwards Syndrome.Biomedicines · 2025Article
- A decade later: Assessing pregnant women's perspectives on non-invasive prenatal testing (NIPT) in Saudi Arabia.Heliyon · 2024Article
- Review
- New Perspectives on Risk Assessment and Anticoagulation in Elective Spine Surgery Patients: The Impact of Ultra-Minimally Invasive Endoscopic Surgery Techniques on Patients with Cardiac Disease.Journal of personalized medicine · 2024Article
- Cell‑free fetal DNA at 11‑13 weeks of gestation is not altered in complicated pregnancies.Biomedical reports · 2024Article
- Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.Molecular genetics & genomic medicine · 2024Review
- Limited ability of increased sequencing depth in detecting cases missed by noninvasive prenatal testing: a comparative analysis of 3 clinical cases.Scientific reports · 2024Article
- Informal Prenatal Genetic Screening Education: What can you learn from Google and YouTube?Genetics in medicine open · 2024Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNon-invasive prenatal testing (NIPT) has had an incomparable triumph in prenatal diagnostics in the last decade. Over 1400 research articles have been published, predominantly praising the advantages of this test.
methodsThe present study identified among the 1400 papers 24 original and one review paper, which were suited to re-evaluate the efficacy of > 750,000 published NIPT-results. Special attention was given to false-positive and false-negative result-rates. Those were discussed under different aspects-mainly from a patient-perspective.
resultsA 27: 1 rate of false-positive compared to false-negative NIPT results was found. Besides, according to all reported, real-positive, chromosomally aberrant NIPT cases, 90% of those would have been aborted spontaneously before birth. These findings are here discussed under aspects like (i) How efficient is NIPT compared to first trimester screening? (ii) What are the differences in expectations towards NIPT from specialists and the public? and (iii) There should also be children born suffering from not by NIPT tested chromosomal aberrations; why are those never reported in all available NIPT studies?
conclusionsEven though much research has been published on NIPT, unbiased figures concerning NIPT and first trimester screening efficacy are yet not available. While false positive rates of different NIPT tests maybe halfway accurate, reported false-negative rates are most likely too low. The latter is as NIPT-cases with negative results for tested conditions are yet not in detail followed up for cases with other genetic or teratogenic caused disorders. This promotes an image in public, that NIPT is suited to replace all invasive tests, and also to solve the problem of inborn errors in humans, if not now then in near future. Overall, it is worth discussing the usefulness of NIPT in practical clinical application. Particularly, asking for unbiased figures concerning the efficacy of first trimester-screening compared to NIPT, and for really comprehensive data on false-positive and false-negative NIPT results.
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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.