Screenshot of Table 3: BTD pathogenic or likely pathogenic variant frequencies by race/ethnicity First column label: Race/Ethnicity Second column label: BTD Heterozygous Positive Third column label: BTD Heterozygote Frequency (95% CI) 1st Row entries: Black/111/1 in 50 (1 in 61, 1 in 42) 2nd Row: Asian/220/1 in 36 (1 in 42, 1 in 32) 3rd Row: Hispanic/393/1 in 20 (1 in 22, 1 in 18) 4th Row: White/2231/1 in 12 (1 in 12, 1 in 11) 5th Row: Other/848/ 1 in 17 (1 in 18, 1 in 16) 6th Row: Missing/1822/ 1 in 16 (1 in 17, 1 in 16)

Pathogenic and likely pathogenic BTD variants identified in a large reproductive carrier screening cohort are comparable to those identified via newborn screening bit.ly/4hUmWfy #carrierscreening #biotinidasedeficiency