Evidence map›Paper›PMID 40670315›Full record

ArticlePrenatal diagnosis2025

The Ultrasound and Genetic Characteristics of Fetuses With Laterality Defects-A Prenatal Cohort in Asian Population.

Wu Yi, Hua Renyi, Chen Yiyao, Wang Xiao, Chen Ping, Wang YanLin, Wang Hui

Abstract read
In one paragraph

Article in Prenatal diagnosis, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

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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

1 citing paper in PubMed.

  1. 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

7 authors.

Wu YiPrenatal Diagnosis Center, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.ORCID 0000-0001-9401-8807
Hua RenyiPrenatal Diagnosis Center, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Chen YiyaoDepartment of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.ORCID 0009-0002-8966-7890
Wang XiaoDepartment of Pathology, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Chen PingDepartment of Ultrasonography, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.ORCID 0000-0002-1300-1833
Wang YanLinPrenatal Diagnosis Center, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Wang HuiDepartment of Ultrasonography, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Funding

Interdisciplinary Program of Shanghai Jiao Tong University ZH2018QNB14Shanghai Municipal Commission of Science and Technology Program 19411960900
6 · The paper itself

Abstract

objectiveTo investigate the distribution of laterality defects in fetuses, including situs inversus totalis (SIT) and situs ambiguous (SA), and to explore the potential genetic etiology of these laterality defects.

methodsDetailed fetal echocardiography and extracardiac structural evaluations were performed. Genetic testing, including chromosomal microarray analysis, and trio exome sequencing was conducted to identify potential genetic variants.

resultsThe incidence of heart malformation was significantly higher in SA fetuses than in SIT group (30/31 vs. 2/36, p < 0.001). The incidence of univentricular heart with single atrium was significantly higher in right isomerism compared with left isomerism (12/19 vs. 3/12, p = 0.029), while the incidence of double outlet right ventricle was significantly higher in left isomerism (5/12 vs. 1/19, p = 0.022). Genetic testing identified variation within candidate genes of cardiac development. Except for CFAP300 c.604delG and KMT2D c.16351T>C, which were rated as "likely pathogenic", all other variants were categorized as variants of uncertain significance, with some fetuses having compound heterozygous variations.

conclusionFetuses with SA have a significantly higher likelihood of concurrent heart malformations compared with those with SIT. Genetic testing identified potential genetic variants that may play crucial roles in the mechanisms underlying normal fetal visceral positioning. Further studies are needed to explore the clinical significance of these genetic variants and to improve our understanding of the etiology and management of fetal laterality defects.

Indexed as

Heart Defects, CongenitalHeterotaxy SyndromeSitus InversusUltrasonography, PrenatalAdultAsian PeopleCohort StudiesEchocardiographyFemaleGenetic TestingHumansPregnancy

Identifiers

PMID40670315
PMCPMC12322240

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