Given the high carrier rates of the GJB2 and SLC26A4 genes in the Chinese population (Zhang et al., 2023) and following the latest recommendations of the American College of Medical Genetics and Genomics in 2021 (Gregg et al., 2021), GJB2-associated autosomal recessive deafness-1A (DFNB1A; OMIM: 220290) and SLC26A4-associated autosomal recessive deafness-4 (DFNB4) with enlarged vestibular aqueduct (OMIM: 600791) or Pendred syndrome (PDS; OMIM: 274600) were included in this study for preconception or prenatal carrier screening. The gene discussed is GJB2; the disease is autosomal recessive nonsyndromic hearing loss 4.