Evidence map›Paper›PMID 39239799›Full record

ArticleAnnals of medicine2024

Detection of genomic variants by genome sequencing in foetuses with central nervous system abnormalities.

Yanfei Wang, Meimei Liu, Zhi Gao, Chunxiao Hua, Jinna Jiang, Yuting Zheng, Zirui Dong, Ye Cao, Kwong Wai Choy, Xiaofan Zhu and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of medicine, 2024. 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

11 authors.

Yanfei WangGenetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Meimei LiuPrenatal Diagnosis Center, The 2nd Affiliated Hospital of Harbin Medical University, Harbin, China.
Zhi GaoGenetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Chunxiao HuaGenetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Jinna JiangDepartment of Obstetrics and Gynecology, The First Affiliated Hospital of Xiamen University, Xiamen, China.
Yuting ZhengDepartment of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Zirui DongDepartment of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Ye CaoDepartment of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Kwong Wai ChoyDepartment of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Xiaofan ZhuGenetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Xiangdong KongGenetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveClinical validity of genome sequencing (GS) (>30×) has been preliminarily verified in the post-natal setting. This study is to investigate the potential utility of trio-GS as a prenatal test for diagnosis of central nervous system (CNS) anomalies.

methodsWe performed trio-based GS on a prospective cohort of 17 foetuses with CNS abnormalities. Single nucleotide variation (SNV), small insertion and deletion (Indel), copy number variation (CNV), structural variant (SV), and regions with absence of heterozygosity (AOH) were analyzed and classified according to ACMG guidelines.

resultsTrio-GS identified diagnostic findings in 29.4% (5/17) of foetuses, with pathogenic variants found in

conclusionGS demonstrates its feasibility in providing genetic diagnosis for foetal CNS abnormalities and shows the potential to expand the application to foetuses with other ultrasound anomalies in prenatal diagnosis.

Indexed as

DNA Copy Number VariationsPrenatal DiagnosisAdultCentral Nervous SystemFemaleFetusHumansMaleNervous System MalformationsPregnancyProspective StudiesWhole Genome Sequencingcentral nervous systemgenome sequencinggenomic variantPrenatal diagnosis

Identifiers

PMID39239799
PMCPMC11382719

What Socratic holds

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LicenceCC BY-NC
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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.