Clinical application value of preconception and prenatal carrier screening in Yinchuan

To explore the clinical application value of Expanded Carrier Screening (ECS) in preconception and prenatal populations in Yinchuan.

A total of 1,319 participants underwent ECS, including 1,063 females receiving preconception or prenatal screening and 256 males. Among them, 157 couples completed full paired ECS testing, while the remaining participants only received single-individual testing.

332 individuals were identified as carriers of single-gene diseases, with a total carrier rate of 25.17%. The GJB2 gene had the highest mutation frequency, with a carrier rate of 8.87%, followed by PAH, SLC26A4, and ATP7B. A total of 5 high-risk couples (5/157, 3.18%) were identified. After genetic counseling, 2 couples underwent prenatal amniotic fluid diagnosis: one case was diagnosed with Duchenne/Becker muscular dystrophy and opted for induced abortion, while one couple was a carrier of the GJB2 gene, and the newborn passed the hearing screening test. A pregnant woman had a spontaneous abortion of unknown cause, and a carrier of the GJB2 gene, declined prenatal diagnosis and has not yet delivered. The last couple are carriers of GJB2 gene, and the woman is not yet pregnant, comprehensive genetic counseling has been provided regarding transmission risks and available reproductive options.

ECS is a useful tool for identifying high-risk couples in preconception and prenatal settings and for informing genetic counseling and reproductive planning.