〔Abstract〕 Objective To understand the carrying situation and common variation of pathogenic genes of single gene hereditary disease in childbearing age population in Anhui province, to explore the establishment of clinical application network and referral model of carrier screening in Anhui province, and to explore the application value of expansible carrier screening(expanded carrier screening, ECS) in clinic. Methods Samples were collected from 604 individuals of childbearing age, all exhibiting a normal phenotype and a family history of inherited disease. These samples were obtained during the first trimester or early stages of pregnancy(≤13+6 weeks). Based on high-throughput sequencing and special PCR analysis techniques, pathogenic variants associated with 220 diseases were detected, and related genes were detected in the spouses of positive carriers. Results As of May 16, 2023, 604 tested samples had been collected, and 340 carriers of the target disease had been detected; The positive rate of pathogenic variation detection was 56.29%; A total of 499 pathogenic variants were detected, with each tested individual carrying 0-5 variants; 216 cases, accounting for 35.76%, carried a single gene recessive disease pathogenic variation, which was the most common. There were 95 cases carrying two types of single gene recessive genetic disease pathogenic variation, accounting for 15.73%. As of now, 302 couples have been reported, and a total of 7 high-risk couples have been found through screening, with a high-risk rate of 2.32%. There are a total of 5 pairs with autosomal recessive genetic pattern(both spouses carry the same pathogenic gene), and 2 pairs with X-linked genetic pattern(the female carries the X-linked pathogenic gene). Conclusion In this study, we obtained the overall carrier and clinical application of target diseases as well as the carrier rates of causative genes of common single-gene genetic diseases in 604 subjects who underwent ECS testing, which could provide scientific guidance for the establishment of a clinical application network and referral model for carrier screening in Anhui Province.