宁夏地区4169例孕妇耳聋基因产前筛查及临床意义分析

目的 分析宁夏地区4169例孕妇耳聋基因产前筛查情况,探讨在听力正常的孕妇中开展耳聋一、二级预防的意义.方法 选取2019年3月-2021年2月就诊于银川市妇幼保健院早孕建卡门诊及产前诊断中心的4169例听力正常且无耳聋家族史的孕妇为研究对象,采集外周血,采用15项耳聋基因芯片法进行基因检测.对耳聋基因携带者的配偶进行...

Analysis on prenatal screening and clinical significance of deafness genes in 4169 pregnant women in Ningxia area

Objective To analyze the prenatal screening status of deafness genes in 4169 pregnant women in Ningxia area,explore the significance of primary prevention and secondary prevention of deafness among the pregnant women with normal hearing.Methods From March 2019 to February 2021,4169 pregnant women with normal hearing and without deafness family history were selected from Early Pregnancy Card Outpatient Clinic and Prenatal Diagnosis Center of Yinchuan Municipal Maternal and Child Health Care Hospital,peripheral blood was collected and 15 item deafness gene chip method was used.Full-length sequencing of the corresponding disease-causing genes of the spouse of a deaf gene carrier was performed,and genetic counseling based on the sequencing results was conducted.If both spouses were carriers of the same gene mutation,prenatal diagnosis was performed.Results Among 4169 pregnant women,the mutation rate was 4.97%(207/4169),the mutation rates of GJB2 gene,SLC26 A4 gene,GJB3 gene,and mitochondrial 12 SrRNA gene were 2.49%(104 cases),1.80%(75 cases),0.26%(11 cases),and 0.31%(13 cases),respectively,the mutation rate of multiple gene loci was 0.09%(4 cases),five couples were both carriers of the same gene for deafness,a couple were carriers of different genes for deafness.Conclusion Deafness gene screening for pregnant women can initially realize primary and secondary prevention of hereditary deafness genes,reduce the occurrence rate of hearing birth defects,establish an appropriate genetic screening model for hereditary deafness,and prevent and control local deafness,the work is of great significance.