Evidence map›Paper›PMID 40616292›Full record

ArticleClinical genetics2026

Prenatal Cell-Free DNA Screening With Fetal Enrichment Enables Sampling From 8 Weeks of Gestational Age.

Seyedeh Saideh Daryabari, Sylvie Giroux, André Caron, Jean-Claude Forest, Sylvie Langlois, Emmanuel Bujold, François Rousseau

Abstract read
In one paragraph

Article in Clinical genetics, 2026. 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. Article
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

7 authors.

Seyedeh Saideh DaryabariAxe SPPOS, Centre de Recherche du CHU de Québec-Université Laval, Quebec City, Quebec, Canada.ORCID 0000-0003-1951-0847
Sylvie GirouxAxe SPPOS, Centre de Recherche du CHU de Québec-Université Laval, Quebec City, Quebec, Canada.
André CaronAxe SPPOS, Centre de Recherche du CHU de Québec-Université Laval, Quebec City, Quebec, Canada.ORCID 0000-0003-3648-1179
Jean-Claude ForestDepartment of Laboratory Medicine, CHU de Québec, Hôpital St-François D'Assise, Quebec city, Quebec, Canada.ORCID 0000-0002-5910-5822
Sylvie LangloisDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.ORCID 0000-0001-9301-3625
Emmanuel BujoldDepartment of Obstetrics and Gynecology, Université Laval and CHU de Québec, Quebec City, Quebec, Canada.ORCID 0000-0002-6936-4369
François RousseauAxe SPPOS, Centre de Recherche du CHU de Québec-Université Laval, Quebec City, Quebec, Canada.ORCID 0000-0002-4504-5507

Funding

Génome QuébecLa Fondation de l'Université Laval - Chaire de recherche Jeanne et J.-Louis LévesqueLa Fondation de l'Université Laval - Fonds de recherche St-Francois-d'Assise
6 · The paper itself

Abstract

Cell-free DNA (cfDNA) screening for fetal aneuploidy is typically offered from 10 weeks of gestational age (GA) onward. Fetal fraction (FF) enrichment may enable screening before 10 weeks with a low failure rate. This study aimed to assess the feasibility of cfDNA screening with in vitro enrichment before 10 weeks of gestation. 435 pregnant women were recruited between 7w0d and 9w6d of GA (EARLY samples) and scheduled for a second cfDNA sample after 11 weeks of GA (12w+ samples). 371 women provided both an EARLY and a 12w+ sample, and we compared cfDNA results between EARLY and 12w+ samples and sex at birth. For sex determination using cfDNA, EARLY, and 12w+ samples were 100% concordant with clinical sex at birth. In 170 male pregnancies, EARLY samples 5.9% had FF < 4% after enrichment. Seven aneuploidies were observed early, but eight at 12+ weeks (one false positive after invasive diagnostic testing). We observed 4.4% spontaneous abortions between the EARLY and 12w+ sampling. Our findings suggest that in vitro fetal enrichment provides sufficient cfDNA for reliable prenatal cfDNA screening results as early as 8 weeks, but one limitation lies in the high proportion of spontaneous abortions before 12w0d.

Indexed as

Cell-Free Nucleic AcidsNoninvasive Prenatal TestingPrenatal DiagnosisAdultAneuploidyFemaleFetusGenetic TestingGestational AgeHumansMalePregnancyCell-Free Nucleic AcidscfDNAfetal fractionpregnancyprenatal screeningsize selection

Identifiers

PMID40616292
PMCPMC12674973

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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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.