Evidence map›Paper›PMID 38242839›Full record

ReviewPrenatal diagnosis2024

Improving prenatal diagnosis through standards and aggregation.

Michael H Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter N Robinson, Damian Smedley

Abstract readReview
In one paragraph

Review in Prenatal diagnosis, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. 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

9 authors.

Michael H DuyzendCenter for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.ORCID 0000-0002-3941-6447
Pilar CacheiroWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.ORCID 0000-0002-6335-8208
Julius O B JacobsenWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.ORCID 0000-0002-3265-1591
Jessica GiordanoDepartment of Obstetrics & Gynecology, Columbia University Medical Center, New York, New York, USA.ORCID 0000-0002-2265-0691
Harrison BrandCenter for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.ORCID 0000-0002-7901-0812
Ronald J WapnerDepartment of Obstetrics & Gynecology, Columbia University Medical Center, New York, New York, USA.ORCID 0000-0003-0727-1244
Michael E TalkowskiCenter for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.ORCID 0000-0003-2889-0992
Peter N RobinsonThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA.ORCID 0000-0002-0736-9199
Damian SmedleyWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.ORCID 0000-0002-5836-9850

Funding

Mouse Phenotyping Informatics Infrastructure - MP12UM1HG006370 · NHGRI · EUROPEAN MOLECULAR BIOLOGY LABORATORY · PI Pilar Cacheiro Martinez, Helen Elizabeth Parkinson · 2016 to 2026
$20.4M
Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective EvaluationR01HD055651 · NICHD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Wendy K Chung, Vaidehi Jobanputra · 2007 to 2026
$16.5M
The Monarch Initiative: Linking Diseases to Model Organism ResourcesR24OD011883 · OD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HAENDEL, MELISSA A, MUNGALL, CHRISTOPHER J · 2012 to 2024
$16.0M
Mouse Phenotyping Informatics Infrastruture - MP12U54HG006370 · NHGRI · EUROPEAN MOLECULAR BIOLOGY LABORATORY · PI BROWN, STEVE, FLICEK, PAUL · 2011 to 2015
$11.4M
Improvements to the LinkML framework to support the Phenomics First open science resourceRM1HG010860 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HAENDEL, MELISSA A, MUNGALL, CHRISTOPHER J · 2020 to 2024
$10.3M
Clinical Diagnostic Sequencing of Structural VariationR01HD081256 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI TALKOWSKI, MICHAEL E · 2015 to 2025
$7.2M
The Human Phenotype Ontology: Accelerating Computational Integration of Clinical Data for GenomicsU24HG011449 · NHGRI · JACKSON LABORATORY · PI Peter Nicholas Robinson · 2021 to 2026
$6.7M
Increasing the Yield and Utility of Pediatric Genomic Medicine with ExomiserR01HD103805 · NICHD · JACKSON LABORATORY · PI Valentina Cipriani, CHRISTOPHER J MUNGALL · 2021 to 2026
$4.3M
The Genomic Architecture of Pregnancy LossR01HD105266 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI TALKOWSKI, MICHAEL E, WAPNER, RONALD · 2021 to 2024
$3.1M
Comprehensive and non-invasive prenatal screening of coding variationF32HD112084 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI DUYZEND, MICHAEL H · 2023 to 2024
$167k
NHGRI NIH HHS RM1 HG010860NHGRI NIH HHS U24 HG011449NHGRI NIH HHS UM1 HG006370NICHD NIH HHS F32 HD112084NICHD NIH HHS R01 HD055651NICHD NIH HHS R01 HD081256NICHD NIH HHS R01 HD103805NICHD NIH HHS R01 HD105266NIH HHS 1F32HD112084NIH HHS 1R01HD103805NIH HHS 3R01HD055651-15S1NIH HHS 5R01HD055651NIH HHS 5R01HD105266NIH HHS 5R24OD011883NIH HHS 5RM1HG010860NIH HHS R24 OD011883NIH HHS UM1HG006370
6 · The paper itself

Abstract

Advances in sequencing and imaging technologies enable enhanced assessment in the prenatal space, with a goal to diagnose and predict the natural history of disease, to direct targeted therapies, and to implement clinical management, including transfer of care, election of supportive care, and selection of surgical interventions. The current lack of standardization and aggregation stymies variant interpretation and gene discovery, which hinders the provision of prenatal precision medicine, leaving clinicians and patients without an accurate diagnosis. With large amounts of data generated, it is imperative to establish standards for data collection, processing, and aggregation. Aggregated and homogeneously processed genetic and phenotypic data permits dissection of the genomic architecture of prenatal presentations of disease and provides a dataset on which data analysis algorithms can be tuned to the prenatal space. Here we discuss the importance of generating aggregate data sets and how the prenatal space is driving the development of interoperable standards and phenotype-driven tools.

Indexed as

Precision MedicinePrenatal DiagnosisAlgorithmsFemaleGenomicsHumansPhenotypePregnancy

Identifiers

PMID38242839
PMCPMC11006584

What OpenQuestion holds

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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 OpenQuestion graph.