ArticleHuman genomics2026
Severity-dependent risk of chromosomal abnormalities in fetuses with short long bones: a 10-year cohort study.
Article in Human genomics, 2026. 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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Abstract
backgroundShort long bones (SLBs) detected prenatally are associated with chromosomal abnormalities; however, risk stratification according to phenotypic severity and associated anomalies remains incompletely defined.
methodsIn 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.
resultsChromosomal 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.
conclusionsChromosomal 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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