Table1_Hereditary deafness carrier screening in 9,993 Chinese individuals.XLSX

Background: Preconception or prenatal carrier screening plays an important role in reproductive decision-making, but current research on hereditary deafness is limited. This study aimed to investigate the carrier frequencies of common deafness genes in the Chinese population who underwent carrier screening and to follow up on pregnancy outcomes in high-chance couples.Methods: Individual females or couples in preconception or early pregnancy were recruited from two hospitals in China. Carrier screening for common deafness genes in the Chinese population, including the GJB2 and SLC26A4 genes, was performed using next-generation sequencing technology. Genetic counseling was provided to subjects before and after testing.Results: Of the 9,993 subjects screened, the carrier rate was 2.86% for the GJB2 gene and 2.63% for the SLC26A4 gene. The variant with the highest carrier frequency in GJB2 was c.235delC (1.89%), and c.919–2A>G (1.08%) in SLC26A4. Of the six high-chance couples, four made alternative reproductive decisions (three with prenatal diagnosis and one with preimplantation genetic testing), with consequent termination of the birth of two affected fetuses.Conclusion: These findings confirmed the clinical utility of preconception or prenatal carrier screening for hereditary deafness.

背景：先兆或产前携带者筛查在生殖决策中扮演着至关重要的角色，然而，针对遗传性聋哑的研究尚显不足。本研究旨在调查在中国人群中接受携带者筛查的常见聋哑基因的携带频率，并追踪高风险夫妇的妊娠结局。方法：从中国两家医院招募了孕前或早孕期的个体女性或夫妇。采用下一代测序技术对中国人群中常见聋哑基因（包括GJB2和SLC26A4基因）进行携带者筛查。在测试前后为受试者提供遗传咨询。结果：在9,993名受试者中，GJB2基因的携带率为2.86%，SLC26A4基因的携带率为2.63%。GJB2基因中携带频率最高的突变型为c.235delC（1.89%），SLC26A4基因中为c.919–2A>G（1.08%）。在六对高风险夫妇中，四对夫妇做出了替代生殖决策（三例进行产前诊断，一例进行胚胎植入前遗传检测），随后终止了两个受影响胎儿的出生。结论：这些发现证实了孕前或产前携带者筛查在遗传性聋哑中的临床应用价值。