孕妇地中海贫血 遗传性耳聋及脊髓性肌萎缩症三联筛查在出生缺陷预防中的作用  

The role of combined carrier screening for thalassemia,hereditary deafness,and spinal muscular atrophy in prevention of birth defects

作　　者：王智慧 吴洁丽 白文静 项延包 徐雪琴 WANG Zhi-hui;WU Jie-li;BAI Wen-jing;XIANG Yan-bao;XU Xue-qin(Department of Gynecology and Obstetrics,Wenzhou Central Hospital,Wenzhou,Zhejiang 325000,China;不详)

机构地区：[1]温州市中心医院妇产科,浙江温州325000 [2]温州市中心医院检验科

出　　处：《中国妇幼保健》2024年第4期734-739,共6页Maternal and Child Health Care of China

基　　金：浙江省基础公益研究计划项目(LGF21H26005);浙江省温州市科学技术局基础性医疗卫生科技项目(Y2020084)。

摘　　要：目的探讨对孕妇进行地中海贫血、遗传性耳聋、脊髓性肌萎缩症(SMA)三联筛查预防出生缺陷的价值。方法2020年2月—2022年7月共招募3620例温州籍孕妇,收集唾液标本,检测常见的3种缺失型α地中海贫血、3种突变型α地中海贫血、19种突变型β地中海贫血的突变位点,常见的4个遗传性耳聋基因的21个突变位点以及运动神经元存活基因1(SMN1)的第7和/或第8外显子拷贝数情况。对携带者配偶进行相应基因型检测,对高危家庭进行产前诊断。结果在3620例孕妇中,共检出携带者517例(14.28%),其中地中海贫血、遗传性耳聋、SMA携带者分别为300例、163例、80例。在召回的携带者配偶中,分别检出地中海贫血、遗传性耳聋、SMA携带者19例,8例,3例。通过遗传咨询,有17例地中海贫血、7例遗传性耳聋、3例SMA基因携带者家庭接受羊水穿刺产前诊断,共检出异常胎儿5例,1例为α地中海贫血--^(SEA)/α^(QS)α复合杂合、1例为α地中海贫血--^(SEA)/--^(SEA)纯合,1例为GJB2 c.235delC纯合,1例为SLC26A4 c.2168(A>G)和SLC26A4 IVS7-2A>G复合杂合,1例为SMN1基因外显子7和外显子8纯合突变。结论对孕妇进行地中海贫血、遗传性耳聋、SMA三联筛查并对高风险妊娠进行产前诊断,可以有效防止地中海贫血、遗传性耳聋、SMA重症患儿的出生,对于疾病防控有一定参考价值。Objective To explore the value of combined carrier screening for thalassemia,hereditary deafness,and spinal muscular atrophy(SMA)in prevention of birth defects in pregnant women.Methods From February 2020 to July 2022,3620 pregnant women in Wenzhou City were screened.Saliva samples were collected to detect 3 deletion sites ofαthalassemia,3 mutant sites ofαthalassemia,19 mutant sites ofβthalassemia,21 mutation sites of 4 hereditary deafness genes,and copy numbers of exon 7 and/or exon 8 of survival motor neuron gene 1(SMN1).The corresponding genotypes of the paternal partners were detected,and prenatal diagnosis was carried out for high-risk families.Results Among 3620 pregnant women,there were 517 carriers(14.28%),among which carriers of thalassemia,hereditary deafness,and SMA were 300,163,and 80,respectively.Among the paternal partners,carriers of thalassemia,hereditary deafness,and SMA were 19,8,and 3,respectively.After genetic counseling,17 cases of thalassemia carriers,7 cases of hereditary deafness gene carriers,and 3 cases of SMA carriers underwent amniocentesis for prenatal diagnosis.A total of 5 abnormal cases were detected:one case was diagnosed asαthalassemia(compound heterozygous--^(SEA)/α^(QS)α),one case was diagnosed asαthalassemia(homozygous--^(SEA)/--^(SEA)),one case was diagnosed as hereditary deafness(homozygous GJB2 c.235delC),one case was diagnosed as hereditary deafness[compound heterozygous SLC26A4 c.2168(A>G)and SLC26A4 IVS7-2A>G],and one case was diagnosed as SMA(SMN1 gene exon 7 and 8 homozygous deletions).Conclusion The combined screening of thalassemia,hereditary deafness,and SMA in pregnant women and prenatal diagnosis of high-risk pregnancies can effectively prevent the birth of children with these three diseases.This model has a certain reference value for prevention and control of these three diseases.

关 键 词：地中海贫血 脊髓性肌萎缩症 遗传性耳聋 出生缺陷预防 

分 类 号：R715.5[医药卫生—妇产科学]