Evidence map›Paper›PMID 36221164›Full record

ArticlePrenatal diagnosis2023

International Society for Prenatal Diagnosis 2022 debate 3-Fetal genome sequencing should be offered to all pregnant patients.

Ignatia B Van den Veyver, Yuval Yaron, Zandra C Deans

Open access · greenAbstract read
In one paragraph

Article in Prenatal diagnosis, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
3.4field-weighted citation impact, top 8% of its field
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

4 citing papers in PubMed, 9 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Ready or not, genomic screening of fetuses is already here.Genetics in medicine : official journal of the American College of Medical Genetics · 2024
    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 at 3 institutions in 3 countries.

Ignatia B Van den VeyverDepartments of Obstetrics and Gynecology and Molecular and Human Genetics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Texas, USA.ORCID 0000-0002-0651-5924
Yuval YaronPrenatal Genetic Diagnosis Unit, Institute of Genetics and Genomics, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0001-8622-7668
Zandra C DeansDepartment of Laboratory Medicine, NHS Lothian, Royal Infirmary of Edinburgh, Edinburgh, UK.ORCID 0000-0001-9361-6012
Baylor College of Medicine · USNHS Lothian · GBTel Aviv University · IL

Funding

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
Preclinical and Clincial OutcomesP50HD103555 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI MIRJANA MALETIC-SAVATIC · 2020 to 2026
$9.9M
NICHD NIH HHS P50 HD103555NICHD NIH HHS R01 HD055651
6 · The paper itself

Abstract

Prenatal trio exome sequencing (ES) has become integrated into the care for pregnant women when the fetus has structural anomalies. Details regarding optimizing indications for prenatal exome sequencing, its detection rates with different categories of fetal anomalies, and principles of interpretation of pathogenicity of sequence variants are still under investigation. However, there is now growing consensus about its benefits for finding the cause of fetal structural anomalies. What is not established, is whether exome or genome sequencing (GS) has a place in the care of all pregnant women. This report is a summary of the debate on this topic at the 26th International Conference on Prenatal Diagnosis and Therapy. Both expert debaters considered the advantages and disadvantages. Advantages include the ability to diagnose serious childhood conditions without a prenatally observable phenotype, which creates the potential of early treatments. Disadvantages include difficulties with variant classification, counseling complexities, healthcare cost, and the burden on healthcare systems and families, in particular with the discovery of adult-onset disorders or variants of uncertain significance. Although both debaters weighed the balance of these conflicting arguments differently, they agreed that more research is needed to further explore the clinical utility and ethical aspects of GS for all pregnant women.

Indexed as

Prenatal DiagnosisUltrasonography, PrenatalFemaleFetusHumansPregnancyPregnancy Trimester, FirstPrenatal Care

Identifiers

PMID36221164
PMCPMC10108654
OpenAlexW4304589328

What OpenQuestion holds

Textmetadata
LicenceTDM
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.