Evidence map›Paper›PMID 41868040›Full record

ArticleInternational journal of women's health2026

The Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia.

Yan Mei, Jingjing Li, Lijuan Zhang, Xiaoni Wei, Qunxiang Xu, Chunhua Shen, Yanfeng Qin, Qingyan Zhong, Yanyan Li

Abstract read
In one paragraph

Article in International journal of women's health, 2026. 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

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

1 citing paper in PubMed.

  1. Navepegritide in children with achondroplasia.Translational pediatrics · 2026
    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.

Yan Mei *Department of Obstetric, Liuzhou Maternal and Child Care Service Centre, Liuzhou, People's Republic of China.
Jingjing LiDepartment of Obstetric, Liuzhou Maternal and Child Care Service Centre, Liuzhou, People's Republic of China.
Lijuan ZhangDepartment of Obstetric, Liuzhou Maternal and Child Care Service Centre, Liuzhou, People's Republic of China.
Xiaoni WeiDepartment of Clinical Laboratory, Guangzhou Women and Children's Center Liuzhou Hospital, Liuzhou, People's Republic of China.
Qunxiang Xu *Department of Obstetric, Liuzhou Maternal and Child Care Service Centre, Liuzhou, People's Republic of China.
Chunhua ShenDepartment of Obstetric, Liuzhou Maternal and Child Care Service Centre, Liuzhou, People's Republic of China.
Yanfeng QinDepartment of Obstetric, Liuzhou Maternal and Child Care Service Centre, Liuzhou, People's Republic of China.ORCID 0009-0009-6715-3769
Qingyan ZhongDepartment of Clinical Laboratory, Liuzhou Maternal and Child Care Service Centre, Liuzhou, People's Republic of China.
Yanyan LiDepartment of Obstetric, Liuzhou Maternal and Child Care Service Centre, Liuzhou, People's Republic of China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: To investigate the clinical application value of exome sequencing technology in fetuses with sonographically detected skeletal dysplasia. Methods: A total of 80 pregnant women whose fetuses were diagnosed with sonographically detected skeletal dysplasia at 11⁺ Results: Limb shortening was the most common phenotypic manifestation of fetal skeletal dysplasia. The diagnostic yield of KA combined with CMA for fetal skeletal dysplasia was only 7.5% (6/80), while the additional combination with WES identified 43 positive cases, with an overall diagnostic yield of 53.75% (43/80). There was a statistically significant difference in the diagnostic yield between the two detection protocols (χ Conclusion: Whole-exome sequencing technology holds important application value in the prenatal diagnosis of fetal skeletal system diseases, and provides a more accurate evidence base for genetic counseling and clinical decision-making.

Indexed as

clinical valuefetal skeletal dysplasiaprenatal diagnosistechnologywhole exome sequencing

Identifiers

PMID41868040
PMCPMC13005576

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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.