
A groundbreaking study has validated the effectiveness of carrier screening with reflex to single-gene noninvasive prenatal testing (sgNIPT) for identifying pregnancies at risk for inherited autosomal recessive conditions. The study analyzed 528 cases with neonatal or fetal outcomes. The results were highly concordant with sgNIPT, boasting a positive predictive value (PPV) of 100% for specific subgroups and a sensitivity of 96.0%. Specificity stood at 95.2%, with an average PPV of 50.0% and a remarkable negative predictive value (NPV) of 99.8%. Overall, carrier screening with reflex to sgNIPT demonstrated an impressive sensitivity of 92.4% and specificity of 99.9%.
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