ArticlePrenatal diagnosis2020
Most noninvasive prenatal screens failing due to inadequate fetal cell free DNA are negative for trisomy when repeated.
Article in Prenatal diagnosis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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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.
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Who cites it
10 citing papers in PubMed, 13 citations in OpenAlex.
- Fetal Y chromosome abnormalities cause false-low fetal fraction in NIPT: a retrospective analysis of 24,101 pregnant women.Frontiers in genetics · 2026Article
- High platelet distribution width affects the detection of fetal fraction of cell-free DNA detected by non-invasive prenatal testing.American journal of translational research · 2025Article
- Insights into non-informative results from non-invasive prenatal screening through gestational age, maternal BMI, and age analyses.PloS one · 2024Article
- Factors Affecting the Fetal Fraction in Noninvasive Prenatal Screening: A Review.Frontiers in pediatrics · 2022Review
- Not all low fetal fraction cell-free DNA screening failures are at increased risk for aneuploidy.Prenatal diagnosis · 2021Article
- Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis.Frontiers in genetics · 2021Article
- Lipid Metabolism Affects Fetal Fraction and Screen Failures in Non-invasive Prenatal Testing.Frontiers in medicine · 2021Article
- Trends in prenatal diagnosis: An analysis of 40 years of Medical Subject Heading (MeSH) terms in publications.Prenatal diagnosis · 2020Article
- Next-generation sequencing methodologies to detect low-frequency mutations: "Catch me if you can".Mutation research. Reviews in mutation researchReview
- Maternal and Fetal Factors Affecting Cell-Free Fetal DNA (cffDNA) Fraction: A Systematic Review.Journal of reproduction & infertilityReview
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
objectiveWe aimed to test for an association between the amount of circulating fetal cell-free DNA and trisomy, and whether NIPS failure due to low fetal fraction indicates trisomy risk.
methodMaternal BMI, maternal age, fetal sex, gestational age, fetal cfDNA fraction, and NIPS results was collected on 2374 pregnancies. Additional clinical information was available for 1180 research consented patients. We investigated associations between fetal fraction and available variables and determined the success rate of repeat NIPS testing.
resultsFetal trisomy was marginally associated with decreased fetal fraction (P = .067). However, the proportions of trisomy events were not significantly increased in women who had failed NIPS due to low fetal fraction (<4%) (OR = 1.37 [0.3-7.4]; P = .714). 66% of repeated NIPS after a second blood draw were successful.
conclusionFailure to meet the clinical cutoff of 4% fetal fraction established for NIPS accuracy did not suggest increased risk for trisomy in our cohort. Because repeat testing was successful in the majority of cases and most failures were explained by high BMI and low gestational age, a redraw may be an appropriate next step before invasive screening due to concerns for trisomic pregnancies.
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