Evidence map›Paper›PMID 41210373›Full record

ArticleGenetics in medicine open2025

Real-life implementation of prenatal cell-free DNA screening with in vitro fetal enrichment virtually eliminates the need for redraws and improves performance: A cohort study.

Sylvie Giroux, Seyedeh Saideh Daryabari, André Caron, Julie Jeukens, Yves Giguère, Jean-Claude Forest, François Audibert, Emmanuel Bujold, Sylvie Langlois, François Rousseau

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Article in Genetics in medicine open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Sylvie GirouxCentre de recherche du CHU de Québec-Université Laval, 10 rue de l'Espinay, Québec City, QC, Canada.
Seyedeh Saideh DaryabariCentre de recherche du CHU de Québec-Université Laval, 10 rue de l'Espinay, Québec City, QC, Canada.
André CaronCentre de recherche du CHU de Québec-Université Laval, 10 rue de l'Espinay, Québec City, QC, Canada.
Julie JeukensDepartment of laboratory medicine, CHU de Québec, Hôpital St-François d'Assise, 10 rue de l'Espinay, Québec city, QC, Canada.
Yves GiguèreCentre de recherche du CHU de Québec-Université Laval, 10 rue de l'Espinay, Québec City, QC, Canada.
Jean-Claude ForestCentre de recherche du CHU de Québec-Université Laval, 10 rue de l'Espinay, Québec City, QC, Canada.
François AudibertDepartment of Obstetrics and Gynecology, University of Montreal, CHU Ste-Justine Research Center, Montreal, QC, Canada.
Emmanuel BujoldCentre de recherche du CHU de Québec-Université Laval, 10 rue de l'Espinay, Québec City, QC, Canada.
Sylvie LangloisDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
François RousseauCentre de recherche du CHU de Québec-Université Laval, 10 rue de l'Espinay, Québec City, QC, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Insufficient fetal fraction is a significant cause of prenatal cell-free DNA (cfDNA) screening failure, affecting 2% to 5% of samples, particularly among women with high body mass index (BMI). We evaluated the clinical impacts of in vitro fetal enrichment in a public prenatal cfDNA screening laboratory, hypothesizing that it would lower failure rates. Methods: This cohort study analyzed 8551 consecutive samples from pregnant women at an ISO15189-accredited prenatal cfDNA screening laboratory. We compared 4893 samples tested before and 3651 samples after implementing fetal enrichment. Samples were collected from January 2021 to October 2023 from high-risk (4809) pregnant women enrolled in the public Quebec Prenatal Screening Program (including 7 lost to follow-up and who were excluded from the analysis) and low-risk (3550) pregnancies from the Pegasus-2 project and divided into 4 groups. A total of 192 low-risk twin pregnancies were also included. Results: Fetal enrichment doubled fetal fraction and reduced the assay failure rate by more than 10-fold (from 1.6% to 0.14%, Conclusion: Prenatal cfDNA screening with in vitro fetal enrichment enhances accessibility and reliability of prenatal screening, nearly eliminating test failures and providing timely results for all samples, regardless of maternal BMI.

Indexed as

Cohort studyFetal enrichmentPrenatal cell-free DNA screeningReal-life implementation cohort studyTest failures

Identifiers

PMID41210373
PMCPMC12593624

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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.