Evidence mapPaperPMID 41102417Full record

ReviewNature genetics2025

Expanding the scope of non-invasive prenatal screening.

Kate Elizabeth Stanley, Bernard Thienpont, Joris Robert Vermeesch

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. 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

3 authors.

Kate Elizabeth StanleyLaboratory for Cytogenetics and Genome Research, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Bernard ThienpontLaboratory for Functional Epigenetics, Department of Human Genetics, KU Leuven, Leuven, Belgium. bernard.thienpont@kuleuven.be.ORCID http://orcid.org/0000-0002-8772-6845
Joris Robert VermeeschLaboratory for Cytogenetics and Genome Research, Department of Human Genetics, KU Leuven, Leuven, Belgium. joris.vermeesch@kuleuven.be.ORCID http://orcid.org/0000-0002-3071-1191

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Non-invasive prenatal screening has swiftly been implemented as a first- or second-tier test for common fetal aneuploidies and typically relies on sequencing maternal circulating cell-free DNA (cfDNA). This cfDNA comprises both the maternal and fetal genomes and the epigenetic features of its cells of origin. Here, we discuss how genetic findings beyond common fetal aneuploidies can provide important information about maternal and fetal health. Moreover, epigenetic and fragmentomic cfDNA features and cell-free RNA are emerging as powerful biomarkers of health and disease. We expound on the cfDNA and cell-free RNA analyses that have enabled first-trimester prediction of actionable pregnancy complications, such as preeclampsia, gestational diabetes, preterm birth, pregnancy-related immune-mediated disease activity and infections. This expanding scope of non-invasive prenatal screening promises to transform obstetric care from reactive to preventive, personalized medicine.

Indexed as

Noninvasive Prenatal TestingPrenatal DiagnosisAneuploidyBiomarkersCell-Free Nucleic AcidsEpigenesis, GeneticFemaleHumansPregnancyPregnancy ComplicationsBiomarkersCell-Free Nucleic Acids

Identifiers

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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 Socratic graph.