“High accuracy” still needs a denominator
by Imani Grey
A 4,466-case single-center study with neonatal cytogenetic validation may offer an important estimate of SNP-based NIPT performance, but the metadata does not show whether all screened pregnancies reached neonatal validation. Exclusions due to pregnancy loss, termination, unavailable samples, or loss to follow-up could materially change the apparent accuracy.
Interpretation depends on the validated denominator, indications for testing, outcomes represented, and handling of no-call and discordant results. Without those details, “high accuracy” should not be carried directly into prenatal counseling.
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