Evidence map›Paper›PMID 41457519›Full record

ArticleAnnals of medicine2026

Genetic analysis of fetal skeletal dysplasia via whole exome sequencing and non-invasive prenatal diagnosis.

Lulu Wang, Yinglu Zhang, Fangxiu Zheng, He Dong, Xinmei Zhu, Chenbo Jia, Bin Zhang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of medicine, 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

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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. Review
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.

Lulu WangDepartment of Medical Genetics, Changzhou Maternal and Child Heath Care Hospital, Changzhou Medical Center, Nanjing Medical University, Changzhou, Jiangsu, China.
Yinglu ZhangDepartment of Medical Genetics, Changzhou Maternal and Child Heath Care Hospital, Changzhou Medical Center, Nanjing Medical University, Changzhou, Jiangsu, China.
Fangxiu ZhengDepartment of Medical Genetics, Changzhou Maternal and Child Heath Care Hospital, Changzhou Medical Center, Nanjing Medical University, Changzhou, Jiangsu, China.
He DongDepartment of Medical Genetics, Changzhou Maternal and Child Heath Care Hospital, Changzhou Medical Center, Nanjing Medical University, Changzhou, Jiangsu, China.
Xinmei ZhuDepartment of Medical Genetics, Changzhou Maternal and Child Heath Care Hospital, Changzhou Medical Center, Nanjing Medical University, Changzhou, Jiangsu, China.
Chenbo JiaDepartment of Medical Genetics, Changzhou Maternal and Child Heath Care Hospital, Changzhou Medical Center, Nanjing Medical University, Changzhou, Jiangsu, China.
Bin ZhangDepartment of Medical Genetics, Changzhou Maternal and Child Heath Care Hospital, Changzhou Medical Center, Nanjing Medical University, Changzhou, Jiangsu, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveFetal skeletal dysplasia (SD) is a complex group of bone and cartilage with high genetic heterogeneity and phenotypic diversity. Our study aimed to identify the genetic causes of fetal SD, provide an accurate prenatal diagnosis for those families investigate non-invasive prenatal detection strategy, and facilitate clinical diagnosis of fetal SD. MATERIALS AND

methodsA Total 34 fetuses with SD were recruited and analyzed using chromosomal microarray analysis (CMA) and whole exome sequencing (WES). Moreover, a non-invasive prenatal diagnosis (NIPD) based on next-generation sequencing (NGS) using circulating fetal DNA in maternal plasma was performed on 5 SD fetuses.

resultsA Total 55.88% (19/34) fetueses with SD were identified with the genetic etiologies. A Total 27 cases underwent karyotype and CMA analysis, and the diagnostic rate was 3.70% (1/27), while 34 cases accepted WES, and the diagnostic rate was 55.88% (19/34). Of the 19 positive cases, 2 cases were identified with pathogenic CNVs (10.53%, 2/19), and the other 17 cases were identified with pathogenic or likely pathogenic variations (89.47%, 17/19). The FGFR3 was the most prevalent SD-causing gene (47.06%, 8/17). In addition, 5 cases accepted the NIPD based on NGS for the detection of fetal SD, and the results were all consistent with those of amniocentesis.

conclusionsOur study highlights the advantages of WES compared with CMA in genetic diagnosis in fetal SD. Furthermore, our study revealed the excellent detection efficiency of NIPD based on NGS, which may be a potential noninvasive detection method in fetal SD.

Indexed as

Bone Diseases, DevelopmentalExome SequencingNoninvasive Prenatal TestingPrenatal DiagnosisAdultDNA Copy Number VariationsFemaleFetusGenetic TestingHigh-Throughput Nucleotide SequencingHumansMicroarray AnalysisPregnancyReceptor, Fibroblast Growth Factor, Type 3FGFR3 protein, humanReceptor, Fibroblast Growth Factor, Type 3genetic testingnon-invasive prenatal diagnosisSkeletal dysplasiawhole exome sequencing

Identifiers

PMID41457519
PMCPMC12777751

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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.