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Recurrent CNVs in constitutional CMA: a ClinGen-anchored single-center postnatal and prenatal experience.
Frontiers in Genetics · · Journal Article · Open access
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Abstract ↗AI summary
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ClinGen-anchored interval matching in constitutional CMA found recurrent CNVs in 5.54% of 1,661 postnatal probands and 4.24% of 401 prenatal samples, excluding aneuploidies.
- Why it matters: Recurrent CNVs are clinically important, but routine CMA outputs often lack a canonical, interval-matched, direction-specific quantification aligned to ClinGen standards.
- What they did: A single-center retrospective review (2014–2026) re-curated array-CGH/SNP-array records against one ClinGen release, using breakpoint concordance with low-copy repeat blocks and canonical interval size.
- The result: Pathogenic or likely pathogenic recurrent CNVs occurred in 71.74% of postnatal recurrent cases and 41.18% of prenatal carriers, implying a recurrent-region label alone is insufficient for interpretation.
The findingWhy it mattersWhat they didThe result
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