Evidence map›Paper›PMID 39831619›Full record

ArticleMolecular genetics & genomic medicine2025

Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection.

Li-Min Cui, Hua-Ying Hu, Xiao-Mei Zhai, Ming-Fei Qi, Yan-Ming Liu, Cong-Ying Han, Jing Zhang, Ming Shen, Yu-Lan Xiang, Wen-Qi Chen and 3 more

Abstract read
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In one paragraph

Article in Molecular genetics & genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

13 authors.

Li-Min CuiPrenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei, China.
Hua-Ying HuBirth Defects Prevention and Control Technology Research Center, Medical Innovation Research Division of Chinese PLA General Hospital, Beijing, China.ORCID https://orcid.org/0000-0002-3933-1451
Xiao-Mei ZhaiPrenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei, China.
Ming-Fei QiPrenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei, China.
Yan-Ming LiuPrenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei, China.
Cong-Ying HanPrenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei, China.
Jing ZhangPrenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital; Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang, Hebei, China.ORCID https://orcid.org/0000-0002-9957-3372
Ming ShenBirth Defects Prevention and Control Technology Research Center, Medical Innovation Research Division of Chinese PLA General Hospital, Beijing, China.
Yu-Lan XiangDepartment of Orthodontics, Beijing Stomatological Hospital, Capital Medical University School of Stomatology, Capital Medical University, Beijing, China.
Wen-Qi ChenPrenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital; Hebei Key Laboratory of Maternal and Fetal Medicine, Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang, Hebei, China.
Kai YangPrenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital; Beijing Maternal and Child Healthcare Hospital, Capital Medical University, Beijing, China.ORCID https://orcid.org/0000-0002-7457-3106
Dong-Liang ZhangDepartment of Orthodontics, Beijing Stomatological Hospital, Capital Medical University School of Stomatology, Capital Medical University, Beijing, China.
Huan-Xia XingPrenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei, China.ORCID https://orcid.org/0000-0002-9398-8278

Funding

Beijing Nova Program no. 20220484231China Higher Education Innovation Fund no. 2021JH039China Higher Education Innovation Fund no. 2022BC079Science and Technology Research and Development Program of Langfang no. 2022013136
6 · The paper itself

Abstract

backgroundSkeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs. MATERIALS AND

methodsIn this study, we recruited 26 cases of SD and analyzed them with a designed sequential genetic detection. Chromosome karyotyping, microarray analysis (CMA), and whole exome sequencing (WES) techniques are performed as needed. Sanger sequencing and fluorescent quantitative PCR (QF-PCR) were used as validation methods.

resultsA total of 16 cases (61.5%, 16/26) received positive results at various levels of testing, including one trisomy 18, four copy number variations (CNVs), and 11 sequence variations. Additionally, four novel SD-related sequence mutations were detected in this study.

conclusionOur findings provide conclusive evidence for genetic counseling of corresponding families and expand the mutation spectrum of SD. In addition, this study demonstrates that a strategy sequentially including various genetic techniques contributes to the diagnosis of highly heterogeneous genetic disorders such as SD.

Indexed as

Bone Diseases, DevelopmentalGenetic TestingPrenatal DiagnosisAdultDNA Copy Number VariationsExome SequencingFemaleHumansKaryotypingMaleMutationPregnancychromosome microarray analysiskaryotypingskeletal dysplasiawhole exome sequencing

Identifiers

PMID39831619
PMCPMC11744476

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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.