Analysis on the clinical significance of prenatal sequential screening for hereditary deafness gene carriers

LI Shanshan; ZHANG Meng; CHEN Yujiao; YAN Yousheng; WANG Yipeng

doi:10.3969/j.issn.1674-3806.2024.07.10

Abstract：Objective To analyze the clinical significance of prenatal sequential screening for hereditary deaf-ness gene carriers.Methods A total of 9 391 pregnant women who underwent mutational site screening for hereditary deafness genes in Beijing Obstetrics and Gynecology Hospital,Capital Medical University from May 2022 to December 2022 were selected.The hereditary deafness genes were detected by using microfluidic chip method and the carrying rate of these hereditary deafness genes in the pregnant women was analyzed.The spouses of the pregnant women with GJB2 gene and SLC26A4 gene variants detected were screened for the same pathogenic genes by using targeted high-throughput sequen-cing.When both sides of the spouses were detected with the same pathogenic gene variants,prenatal diagnosis of the pathogenic gene was recommended for their fetus.For the pregnant women with GJB3 gene variant,audiological eval-uation,genetic counseling and follow-up were recommended.For the pregnant women with mitochondrial 12S rRNA gene variant detected,genetic counseling and medication guidance were provided.Results Among the 9 391 pregnant women,1 002 cases were found to be carriers of hereditary deafness gene mutation,and the carrying rate was 10.67％.The carrying rates of GJB2,SLC26A4,GJB3 and mitochondrial 12S rRNA mutations were 7.93％,1.99％,0.28％and 0.15％,respectively.The mutations were verified by Sanger sequencing and the coincidence rate was 99.80％.The spouses of 293 carriers of GJB2 gene or SLC26A4 gene mutations were screened sequentially.Among these spouses,4 couples were found to carry the disease-causing mutation site of the same gene.After sequencing of amniotic fluid cells,1 case was found to carry GJB2 c.235 del C homozygous mutation,and 1 case was found to carry SLC26A4 c.919-2 A＞G homozygous mutation and the other 2 cases were found to carry heterozygous mutations.Conclusion Prenatal sequential screening of deafness gene carriers can not only screen the carriers of hereditary deafness gene mutations,but also identify the individuals who are sensitive to drug-induced deafness,thereby achieving early diagnosis,early intervention and timely warning of deafness in fetuses.