Severity-dependent risk of chromosomal abnormalities in fetuses with short long bones: a 10-year cohort study.

IF 4.1 3区医学 Q2 GENETICS & HEREDITY

Human Genomics Pub Date : 2026-05-10 DOI:10.1186/s40246-026-00977-0

Yanlin Huang, Hongke Ding, Jian Lu, Ting Wang, Xiaomei Shi, Cuiqing Huang, Jing Wu

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引用次数: 0

Abstract

Background: Short long bones (SLBs) detected prenatally are associated with chromosomal abnormalities; however, risk stratification according to phenotypic severity and associated anomalies remains incompletely defined.

Methods: In this 10-year retrospective cohort study (2015-2024), 790 fetuses with SLBs (≥ 2 SD below the gestational mean) underwent conventional karyotyping (CS) and/or chromosomal microarray analysis (CMA). SLBs were categorized by severity (mild, moderate, severe) and presentation (isolated vs. non-isolated). Detection rates were compared across subgroups.

Results: Chromosomal abnormalities were identified in 38/790 fetuses (4.8%), including 2.2% numerical and 2.7% structural aberrations. The detection rate increased with limb shortening severity (3.1% in mild, 8.2% in moderate, and 8.8% in severe cases; P = 0.005). Non-isolated SLBs were associated with a significantly higher abnormality rate than isolated cases (7.7% vs. 2.2%, P < 0.001). CMA detected clinically relevant submicroscopic copy number variants missed by karyotyping, whereas karyotyping identified balanced rearrangements not detectable by CMA.

Conclusions: Chromosomal abnormalities represent a measurable but limited proportion of fetuses with SLBs, with risk significantly influenced by phenotypic severity and coexisting anomalies. These findings support a risk-stratified framework for prenatal genetic evaluation and may inform clinical counseling and management strategies.

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短长骨胎儿染色体异常的严重依赖性风险：一项10年队列研究。

背景：产前检测到的短长骨（slb）与染色体异常有关；然而，根据表型严重程度和相关异常的风险分层仍然不完全确定。方法：在这项为期10年的回顾性队列研究（2015-2024）中，790例slb胎儿（低于妊娠平均值≥2 SD）接受了常规核型分析（CS）和/或染色体微阵列分析（CMA）。slb按严重程度（轻度、中度、重度）和表现（孤立性与非孤立性）进行分类。各亚组间检出率比较。结果：染色体异常38/790例（4.8%），其中数字畸变2.2%，结构畸变2.7%。检出率随肢体缩短严重程度的增加而增加（轻度3.1%，中度8.2%，重度8.8%;P = 0.005）。非分离slb的异常发生率明显高于分离病例（7.7% vs. 2.2%）， P结论：染色体异常在slb胎儿中占可测量但有限的比例，其风险受表型严重程度和共存异常的显著影响。这些发现支持产前遗传评估的风险分层框架，并可能为临床咨询和管理策略提供信息。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Human Genomics GENETICS & HEREDITY-

CiteScore

6.00

自引率

2.20%

发文量

审稿时长

11 weeks

期刊介绍： Human Genomics is a peer-reviewed, open access, online journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics. Topics covered by the journal include, but are not limited to: pharmacogenomics, genome-wide association studies, genome-wide sequencing, exome sequencing, next-generation deep-sequencing, functional genomics, epigenomics, translational genomics, expression profiling, proteomics, bioinformatics, animal models, statistical genetics, genetic epidemiology, human population genetics and comparative genomics.