SynthesisGenetics in medicine : official journal of the American College of Medical Genetics2018
Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing.
Synthesis in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses that pooled it.
What it found
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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.
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Who cites it
20 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Non-invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta-analysis of diagnostic test accuracy studies.Molecular genetics & genomic medicine · 2021Pooled 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
- Genome-Wide Prenatal cfDNA Screening and the Obstetric Incidentalome: Maternal Cancer, Placental Mosaicism, and Pregnancy Risk.International journal of women's health · 2026Review
- Clinical Feasibility of Early First-Trimester Non-Invasive Prenatal Testing: Associations Between Gestational Age, Fetal Fraction, and No-Call Rates.The application of clinical genetics · 2026Article
- Investigating the Origins of Biochemical Dysregulation in Trisomy 21 Pregnancy.The Journal of clinical endocrinology and metabolism · 2025Article
- Counseling prior to cfDNA screening: are we giving the right numbers?Archives of gynecology and obstetrics · 2025Article
- Hierarchical Classification of Factors Associated With Noninvasive Prenatal Testing Failures and Its Impact on Pregnancy Outcomes.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2024Article
- Anticoagulation use is associated with lower fetal fraction and more indeterminate results.American journal of obstetrics and gynecology · 2024Article
- Insights into non-informative results from non-invasive prenatal screening through gestational age, maternal BMI, and age analyses.PloS one · 2024Article
- Non-Invasive prenatal testing with rolling circle amplification: Real-world clinical experience in a non-molecular laboratory.Journal of clinical laboratory analysis · 2023Article
- Whole genome non-invasive prenatal testing in prenatal screening algorithm: clinical experience from 12,700 pregnancies.BMC pregnancy and childbirth · 2022Article
- The effect of hemolysis on quality control metrics for noninvasive prenatal testing.BMC medical genomics · 2022Article
- Antenatal screening for chromosomal abnormalities.Archives of gynecology and obstetrics · 2022Review
- Factors Affecting the Fetal Fraction in Noninvasive Prenatal Screening: A Review.Frontiers in pediatrics · 2022Review
- The impact of maternal autoimmune disease on cell-free DNA test characteristics.American journal of obstetrics & gynecology MFM · 2021Article
- Evaluation of repeat testing of a non-sequencing based NIPT test on a Finnish general-risk population.Acta obstetricia et gynecologica Scandinavica · 2021Article
- Amniocentesis and Next Generation Sequencing (NGS)-Based Noninvasive Prenatal DNA Testing (NIPT) for Prenatal Diagnosis of Fetal Chromosomal Disorders.International journal of general medicine · 2021Article
- Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies.BMC pregnancy and childbirth · 2020Article
- Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies.Journal of clinical medicine · 2020Article
- Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test.Molecular cytogenetics · 2019Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeWe systematically reviewed the published literature on test failure rates for the sequencing of cell-free DNA (cfDNA) in maternal plasma to identify Down syndrome.
methodsWe searched peer-reviewed English publications with diagnostic results on all pregnancies that provided test failure rates. Data on the odds of failure in Down syndrome and euploid pregnancies and the impact of repeat testing were extracted. Random-effects modeling was then used to identify moderators that could explain variability.
resultsThirty articles satisfied the inclusion criteria for overall failure rates. Study location (Western and Asian with initial testing, and Western with repeat testing) were significant moderators with failure rates of 3.3, 0.6, and 1.2%, respectively (P = 0.001). The odds ratio for Down syndrome in successful versus failed tests was 0.98 (95% confidence interval: 0.62-1.55, I
conclusionLower failure rates in Asian studies may be related to not routinely measuring the fetal fraction and to fewer obese women. Repeat cfDNA testing is effective in providing reliable results after initial failures. Protocols for primary cfDNA screening should focus on Down syndrome, with less common and more structurally abnormal trisomy 18 and 13 pregnancies treated as adjuncts.
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Registered trials
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