ReviewDiagnostics (Basel, Switzerland)2023
Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions.
Review in Diagnostics (Basel, Switzerland), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 5 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
50 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Prenatal Screening for Common Aneuploidy in Southeast Asian Countries: A Systematic Review of Challenges and Opportunities.Prenatal diagnosis · 2026Pooled it
- AI-guided meta-analysis of non-invasive prenatal testing platforms for trisomy 21 screening: comparative evaluation of cffDNA and fetal cell-based approaches.BMC pregnancy and childbirth · 2026Pooled it
- Diagnostic accuracy of cell-free DNA-based non-invasive prenatal testing for fetal aneuploidies: a systematic review.Frontiers in genetics · 2026Pooled it
- Healthcare professionals' perspectives on and experiences with non-invasive prenatal testing: a systematic review.Human genetics · 2025Pooled it
- Pooled 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
- The Moral Principles of Gamete Donor Screening.Journal of bioethical inquiry · 2026Article
- Liquid biopsy: current applications and future directions.Molecular biomedicine · 2026Review
- A Simplified Workflow for the Prediction of Putative Viral Reads Using NIPT Data.Prenatal diagnosis · 2026Article
- Early Detection of Major Fetal Structural Anomalies in the First Trimester: A Retrospective Single-Center Study in an Unselected Population.Journal of clinical medicine · 2026Article
- Omitting post-alignment processing and merging batch-based imputation: an efficient workflow for NIPT data imputation and its application in maternal folate metabolism genotyping.Journal of human genetics · 2026Article
- Article
- Review
- Fetal Fraction Signatures: A Quality Control Tool to Detect Potentially Confounding Situations in NonInvasive Prenatal Diagnosis of Monogenic Conditions.Clinical genetics · 2026Article
- Decoding structural birth defects through genomic landscapes: Innovative frameworks for diagnosis (Review).International journal of molecular medicine · 2026Review
- Fetal Y chromosome abnormalities cause false-low fetal fraction in NIPT: a retrospective analysis of 24,101 pregnant women.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
- Stratified obstetric management for heterogeneous rare diseases: a precision medicine framework based on four genetic archetypes.Frontiers in medicine · 2026Review
- Article
- Clinical Utility of Opportunistic Genome-Wide cfDNA Prenatal Screening in Intermediate-Risk Pregnancies.Genes · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Non-invasive prenatal testing was first discovered in 1988; it was primarily thought to be able to detect common aneuploidies, such as Patau syndrome (T13), Edward Syndrome (T18), and Down syndrome (T21). It comprises a simple technique involving the analysis of cell-free foetal DNA (cffDNA) obtained through maternal serum, using advances in next-generation sequencing. NIPT has shown promise as a simple and low-risk screening test, leading various governments and private organizations worldwide to dedicate significant resources towards its integration into national healthcare initiatives as well as the formation of consortia and research studies aimed at standardizing its implementation. This article aims to review the reliability of NIPT while discussing the current challenges prevalent among different communities worldwide.
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What OpenQuestion holds
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.