732 preconception/early-pregnancy participants (233 couples and 266 individual females) underwent ECS panel testing

A total of 366 carriers of target diseases were identified, yielding a carrier rate of 50.00% (366/732). A cumulative total of 508 pathogenic/likely pathogenic (P/LP) variants were detected, with an average of 0.69 P/LP variants per individual (508/732). Among the cohort, 243 individuals underwent standard ECS screening, identifying 106 carriers (detection rate: 43.62%); while 489 individuals received advanced ECS screening, detecting 263 carriers (detection rate: 53.78%).High-risk couples included: 13 couples with autosomal recessive diseases (2.61%, 13/499), 7 couples with X-linked female carriers (1.40%), and 1 couple carrying both RS1and GJB2variants. The overall high-risk rate was 4.21% (21/499).