Beschreibung:
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<jats:title>INTRODUCTION:</jats:title>
<jats:p>In the recent ACOG Committee Opinion (no. 690), expanded carrier screening (ECS) was acknowledged as an acceptable carrier screening strategy. In addition, ECS panel development was proposed, in part, to include conditions with a carrier frequency of at least 1:100. However, carrier frequency data are limited for many conditions proposed for ECS. Using a general population, we determined carrier frequencies for 22 genes associated with conditions proposed by ACOG for ECS panel inclusion and examined if other genes/conditions met ACOG ECS criteria.</jats:p>
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<jats:title>METHODS:</jats:title>
<jats:p>Carrier frequencies for 274 genes screened were calculated using 41,898 positive cases from general population carrier screening samples run at a reference laboratory.</jats:p>
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<jats:title>RESULTS:</jats:title>
<jats:p>Observed general population carrier frequencies for 22 ACOG-proposed ECS panel genes were: HBA1/2=1:101, HBB=1:29, BLM=1:408, ASPA=1:450, CFTR=1:27, IKBKAP=1:363, ABCC8=1:260, FANCC=1:453, FMR1= 1:200, GALT=1:144, GBA=1:117, G6PC=1:321, TMEM216=1:653, ACADM=1:88, BCKDHA=1:856, BCKDHB=1:534, MCOLN1= 1:812, SMPD1= 1:185, PAH=1:42, DHCR7=1:68, SMN1= 1:58, and HEXA=1:197. Of 252 tested genes not proposed by ACOG, nine had observed carrier frequencies greater than 1:100 (GJB2=1:16, MEFV=1:31, ATP7B=1:71, SLC26A4=1:71, F11= 1:74, USH2A=1:74, GAA=1:80, PMM2=1:83, and GALC=1:86), and 11 had carrier frequencies between 1:100–1:150 (ACSF3=1:102, ALDOB=1:110, EYS=1:110, PKHD1= 1:110, HOGA1= 1:114, SLC12A3=1:114, CAPN3=1:130, SLC22A5=1:134, PEX6=1:145, GLDC=1:147, and CEP290=1:149).</jats:p>
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<jats:title>CONCLUSION:</jats:title>
<jats:p>We demonstrated general population carrier frequencies for ACOG-proposed ECS conditions. Sixteen ACOG-proposed genes had general population carrier frequencies less than the 1:100 cutoff. Twenty ECS genes not recommended in the Committee Opinion No. 690 meet or are near the 1:100 cutoff and could be considered for ECS, given frequency and condition severity.</jats:p>
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