论文部分内容阅读
目的通过两例脊髓性肌萎缩症(SMA)产前诊断病例总结脊髓性肌萎缩症的致病特点及产前基因诊断方法,为遗传咨询提供指导依据。方法综合分析有SMA孕产史的孕妇两例,通过了解其妊娠史后检测夫妻双方的SMNt基因携带情况,于本次妊娠的孕中期行羊水穿刺并联合聚合酶链式反应-限制性片段长度多态性分析(PCR-RFLP),做出产前诊断并对该疾病进行产前咨询及遗传指导分析。结果两例孕妇本次妊娠均检测为胎儿的非5号染色体上SMNt基因外显子7和外显子8纯合型缺失,排除为SMA患儿。结论根据父母SMNt基因的携带者类型,选择合适的脊髓性肌萎缩症的产前基因诊断方法,评估其本次生育SMA患儿的风险,对SMA携带人群进行遗传指导,可以降低SMA患儿的出生率。
Objective To summarize the pathogenic characteristics of spinal muscular atrophy and prenatal genetic diagnosis by two cases of prenatal diagnosis of spinal muscular atrophy (SMA), and provide guidance for genetic counseling. Methods A total of two pregnant women with history of SMA maternal history were analyzed. The prevalence of SMNt gene in both spouses was determined by understanding their pregnancy history. Amniocentesis was performed in the second trimester of pregnancy and combined with polymerase chain reaction-restriction fragment length Polymorphism analysis (PCR-RFLP), prenatal diagnosis and prenatal counseling and genetic counseling on the disease. Results In both pregnancies, the homozygous deletion of exon 7 and exon 8 of SMNt gene was detected on the non-chromosome 5 in this pregnancy, which was excluded from the study. Conclusion According to the type of carrier of SMNt gene in parents, the suitable prenatal diagnosis method of spinal muscular atrophy was selected to assess the risk of this birth-bearing SMA and the genetic guidance of SMA carriers could reduce the risk of SMA in children with SMA Birth rate.