沧州地区孕妇脊髓性肌萎缩症携带者筛查现状分析  

Analysis of the current situation of carrier screening for spinal muscular atrophy in pregnant women in Cangzhou region

作　　者：李桃桃 穆小荣 孙悦 马德军 邸文治 LI Taotao;MU Xiaorong;SUN Yue;MA Dejun;DI Wenzhi(Genetic Laboratory,Cangzhou Women and Children’s Health,Cangzhou,Hebei 061000,China)

机构地区：[1]沧州市妇幼保健院遗传实验室,河北沧州061000

出　　处：《中国优生与遗传杂志》2024年第9期1928-1931,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析沧州地区1941例孕妇脊髓性肌萎缩症(SMA)的携带情况,初步了解本地区孕妇SMA携带率,掌握本地区孕妇携带者基因分布频率特点。熟悉沧州地区产前筛查SMA的诊断指征,针对高风险孕妇进行产前诊断,减少SMA患儿的出生。方法研究自2021年10月至2023年12月来沧州市妇幼保健院产前诊断中心进行产前筛查SMA的1941例孕妇,应用实时荧光定量聚合酶链反应(RT-PCR)技术进行运动神经元存活基因1(SMN1)的第7、8号外显子拷贝数分析,筛选出SMA孕妇携带者,对携带者的丈夫应用相同方法检测,若夫妻双方同时为SMA携带者,需对家系进行多重连接依赖扩增探针技术(MLPA)验证,确证后对符合孕周的孕妇通过羊水穿刺对胎儿进行产前诊断。结果1941例孕妇中,筛查出孕妇携带者共41名,携带率为2.1%,其中E7和E8双位点杂合缺失33例(携带率1.7%),E8位点杂合缺失8例(携带率0.4%)。检测出配偶同时为携带者的夫妇一对,通过遗传咨询,未对胎儿进行产前诊断,后随访胎儿出生后SMA基因型为正常基因型。结论本文首次报道沧州地区孕妇SMA的携带率,初步了解本地区携带者的基因分布频率,为疾病的遗传咨询及产前诊断提供一定支持,从而减少SMA患儿的出生。Objective To analyze the carrying situation of 1941 pregnant women’s spinal muscle atrophy(SMA)in the Cangzhou area,and to initially understand the SMA carrying rate of pregnant women in the region,and to master the characteristics of the genetic distribution frequency characteristics of pregnant women in the region.To be familiar with the prenatal screening of SMA in Cangzhou area,and to perform prenatal diagnosis for high-risk pregnant women.To reduce the birth of children with SMA.Methods From October 2021 to December 2023,prenatal screening for SMA was conducted on 1941 pregnant women at the Prenatal Diagnosis Center of Cangzhou Women and Children’s Health.The fluorescent quantitative polymerase chain reaction(RT-PCR)technology was used to analyze the copy numbers of exons 7 and 8 of SMN1.Pregnant women carried spinal muscle atrophy gene,the same method of applying the same method of the carrier’s husband.If both husband and wife were carriers for SMA at the same time,they needed to conduct multiple connections to the family department to verify the expansion probe technology(MLPA).After confirmation,prenatal diagnosis was performed on pregnant women who met the gestational age through amniocentesis.Results Among the 1941 pregnant women,a total of 41 carriers were identified,with a carry rate of 2.1%.Among them,33 cases were compound heterozygous deletions of E7 and E8(carrier rate of 1.7%),and 8 cases were heterozygous deletions of E8(carrier rate of 0.4%).One couple was identified as carriers simultaneously,but prenatal diagnosis was not performed for the fetus after genetics consultation.Follow-up revealed a normal genotype for SMA in the newborn.Conclusion This article reports for the first time the carrier rate of SMA in the Cangzhou region among pregnant women,and provides a preliminary understanding of the genetic distribution frequency of carriers in this area,in order to provide support for genetic counseling and prenatal diagnosis of the disease,thereby reducing the birth of SMA children.

关 键 词：脊髓性肌萎缩症 实时荧光定量聚合酶链反应 运动神经元存活基因1 孕妇携带者 

分 类 号：R714.5[医药卫生—妇产科学]