Evidence map›Paper›PMID 38745742›Full record

ArticleFrontiers in medicine2024

Enhancing fetal outcomes in GCK-MODY pregnancies: a precision medicine approach via non-invasive prenatal

Valérie M Schwitzgebel, Jean-Louis Blouin, Barbara Dehos, Bettina Köhler-Ballan, Jardena J Puder, Claudine Rieubland, Maria Triantafyllidou, Anne Zanchi, Marc Abramowicz, Thierry Nouspikel

Abstract read
In one paragraph

Article in Frontiers in medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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.

Valérie M SchwitzgebelPediatric Endocrine and Diabetes Unit, Department of Pediatrics, Gynecology and Obstetrics, Geneva University Hospitals, Geneva, Switzerland.
Jean-Louis BlouinGenetic Medicine, Diagnostic Department, Geneva University Hospitals, Geneva, Switzerland.
Barbara DehosDivision of Endocrinology and Diabetes, Spital Grabs, Grabs, Switzerland.
Bettina Köhler-BallanDepartment of Infectious Disease, Geneva University Hospitals, Geneva, Switzerland.
Jardena J PuderDepartment Women-Mother-Child, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Claudine RieublandDepartment of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Valais, Switzerland.
Maria TriantafyllidouDivision of Endocrinology, Diabetes and Clinical Nutrition, Luzerner Kantonsspital, Lucerne, Switzerland.
Anne ZanchiDepartment of Medicine, Service of Endocrinology, Diabetes and Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
Marc AbramowiczGenetic Medicine, Diagnostic Department, Geneva University Hospitals, Geneva, Switzerland.
Thierry NouspikelGenetic Medicine, Diagnostic Department, Geneva University Hospitals, Geneva, Switzerland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Mutations in the Methods: A small amount of fetal circulating cell-free DNA is present in maternal plasma but cannot be distinguished from maternal cell-free DNA. Determining transmission of a maternal mutation to the fetus thus implies sequencing adjacent polymorphisms to determine the balance of maternal haplotypes, the transmitted haplotype being over-represented in maternal plasma. Results: Here we present a series of such tests in which fetal genotype was successfully determined and show that it can be used to guide therapeutic decisions during pregnancy and improve the outcome for the offspring. We discuss several potential hurdles inherent to the technique, and strategies to overcome these. Conclusion: Our NIPD-M test allows reliable determination of the presence of a maternal

Indexed as

cell-free circulating DNAfetal DNAGCK-MODYglucokinasein utero therapymonogenic diabetesNon-invasive prenatal diagnosispersonalized medicine

Identifiers

PMID38745742
PMCPMC11091329

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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.