ReviewObstetrical & gynecological survey2016
Cell-Free DNA Screening: Complexities and Challenges of Clinical Implementation.
Review in Obstetrical & gynecological survey, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis 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
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.
- Diagnostic accuracy of cell-free DNA-based non-invasive prenatal testing for fetal aneuploidies: a systematic review.Frontiers in genetics · 2026Pooled it
- Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy-number variations in 9,708 pregnancies.Molecular cytogenetics · 2026Article
- Case Report: Expanding the diagnostic spectrum of non-invasive prenatal testing to structural chromosomal abnormalities.Frontiers in genetics · 2026Article
- Cell-free DNA metagenomic next generation sequencing for the diagnosis of infectious diseases: a retrospective assessment of clinical utility in a tertiary and quaternary care facility.Frontiers in microbiology · 2026Article
- SNAP: Streamlined Nextflow Analysis Pipeline for Immunoprecipitation-Based Epigenomic Profiling of Circulating Chromatin.bioRxiv : the preprint server for biology · 2025Article
- Perspectives on Fetal Sex and Prenatal Diagnosis of Differences of Sex Development Among Midwives.Prenatal diagnosis · 2025Article
- Circulating-free DNA: A promising tool for early detection of myocardial infarction.International journal of cardiology. Cardiovascular risk and prevention · 2025Review
- Society for Maternal-Fetal Medicine Consult Series #74: Cell-free DNA screening for aneuploidies: Updated guidance.Pregnancy (Hoboken, N.J.) · 2025Article
- Article
- Implementation of circulating cell-free DNA screening for fetal aneuploidies.Advances in laboratory medicine · 2025Article
- A Qualitative Study of Pregnant Patient Perspectives on Genetic Privacy of Cell-Free DNA and Optimal Design of a Prenatal Genetics Video-Based Educational Intervention.Prenatal diagnosis · 2025Article
- CRISPR/Cas-Based Prenatal Screening for Aneuploidy: Challenges and Opportunities for Early Diagnosis.Medicina (Kaunas, Lithuania) · 2025Review
- The Art (and Science) of Individualized Selection of Non-Invasive Prenatal Screening (NIPS).International journal of women's health · 2025Article
- Invited Perspective: Challenges and Opportunities in Evaluating the Effect of Chemical Mixtures on Congenital Chromosomal Abnormalities.Environmental health perspectives · 2024Article
- DNA methylation in necrotizing enterocolitis.Expert reviews in molecular medicine · 2024Review
- Reasons for failure of noninvasive prenatal test for cell-free fetal DNA in maternal peripheral blood.Molecular genetics & genomic medicine · 2024Article
- Association between cell-free DNA fetal fraction and pregnant character: a retrospective cohort study of 27,793 maternal plasmas.Scientific reports · 2023Article
- Infective Endocarditis during Pregnancy-Keep It Safe and Simple!Medicina (Kaunas, Lithuania) · 2023Review
- Comparison of web-based information about cell-free DNA prenatal screening: implications for differences of sex development care.Frontiers in urology · 2023Article
- Cell-Free Fetal Deoxyribonucleic Acid (cffDNA) Analysis as a Remarkable Method of Non-Invasive Prenatal Screening.Cureus · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Screening for fetal aneuploidy in pregnant women using cell-free DNA has increased dramatically since the technology became commercially available in 2011. Since that time, numerous trials have demonstrated high sensitivity and specificity to screen for common aneuploidies in high-risk populations. Studies assessing the performance of these tests in low-risk populations have also demonstrated improved detection rates compared with traditional, serum-based screening strategies. Concurrent with the increased use of this technology has been a decrease in invasive procedures (amniocentesis and chorionic villus sampling). As the technology becomes more widely understood, available, and utilized, challenges regarding its clinical implementation have become apparent. Some of these challenges include test failures, false-positive and false-negative results, limitations in positive predictive value in low-prevalence populations, and potential maternal health implications of abnormal results. In addition, commercial laboratories are expanding screening beyond common aneuploidies to include microdeletion screening and whole genome screening. This review article is intended to provide the practicing obstetrician with a summary of the complexities of cell-free DNA screening and the challenges of implementing it in the clinical setting.
Indexed as
Identifiers
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.