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Noninvasive prenatal test may detect sickle cell disease

Key clinical point: Noninvasive prenatal testing may be effective in identifying sickle cell disease.

Major finding: Analysis determined that the prenatal assay had a sensitivity of greater than 98% and a specificity of greater than 99%.

Study details: Custom bioinformatics analysis of training cohort of nonpregnant compound heterozygotes for sickle cell disease and a validation cohort of pregnant women with sickle cell disease or sickle cell trait. Accuracy of the assay was determined by comparison with newborn screening results.

Disclosures: Dr. Sheehan reported having no financial relationships to disclose. BillionToOne developed the test.


Sheehan VA et al. FSCDR 2019, Abstract JSCDH-D-19-00048.