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Chiu and colleagues: maternal-plasma sequencing for trisomy 21 assessment

Contribution grade

Prenatal diagnostics · CLINICAL

Reference score110,000Provisional editorial estimate of this exact contribution; its grade is assessed separately.

What changed

Validated multiplexed sequencing against karyotyping in high-risk pregnancies, with protocol-dependent performance.

Scientific scope

The record is the exact 24-author 2011 BMJ study in a high-risk population already indicated for invasive testing. Its validation population, archived samples, assay failures and reference standard bound the result; it is not a universal prenatal diagnosis or screening-policy recommendation.

Evidence

The linked sources identify this contribution and its scope. WRS has not independently reconstructed the scientific claims. The record is the exact 24-author 2011 BMJ study in a high-risk population already indicated for invasive testing. Its validation population, archived samples, assay failures and reference standard bound the result; it is not a universal prenatal diagnosis or screening-policy recommendation.

Contributors

Provisional WRS assessment, edition 2026-10-16.1. Independent expert calibration is pending. This grade does not certify correctness or assign ownership.

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