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.