摘要
目的采用超声引导羊膜腔穿刺抽取羊水产前基因诊断脊髓性肌萎缩症(SMA)。方法对21例孕17～20周,均有生产过一胎以上经临床病史,基因诊断确诊为脊髓性肌萎缩症患儿的孕妇,经系统超声检查排除明显的胎儿结构异常,在超声引导下用一次性20G或22G的PTCD针行羊膜腔穿刺术,抽取澄清的羊水40ml,进行DNA系列测定,运用限制性片段长度多态性(RFLP)技术检测羊水DNA中运动神经元生存1基因(SMN1)是否有缺失,并用短串联重复系列连锁分析(STR连锁分析)排除母血的污染、检测是否为基因携带者。结果 21例羊膜腔穿刺均一次穿刺成功,术后无一例出现羊膜破裂、自然流产、感染、羊水栓塞、胎儿损伤等并发症。21例中均排除母血的污染,其中6例提示SMN1基因缺失,行人工流产术;15例提示SMN1基因未见缺失,其中3例为SMA基因携带者,另12例为完全正常个体,15例足月产后随访至出生后情况良好,引产及出生后的胎儿均经再次基因分析,结果与产前诊断完全一致。结论超声引导行羊膜腔穿刺抽取羊水是产前基因诊断脊髓性肌萎缩症获取标本的安全有效途径,联合运用限制性片段长度多态性(RFLP)技术、短串联重复系列连锁分析(STR连锁分析)法检测不但可产前基因诊断SMA,还可排除母血的污染,且可产前诊断是否为SMA基因携带者,进一步完善了SMA产前诊断体系。
Objective To study amniocentesis in prenatal gene diagnosis of spinal muscular atrophy by ultrasounic guidance.Methods Amniocentesis was performed by ultrasonic guidance on a total of 21 pregnant women who had given birth to children with a clinical diagnosis of spinal muscular atrophy(SMA).Forty milliliters of amniotic fluid was obtained to extract DNA.Polymerase chain reaction with restriction fragment length polymorphism(RFLP),and short tandem repeat(STR)linkage analysis were used to detect the deletion of the telomeric copy of survival motor neuron gene(SMN1)Results None of the 21 cases had complications of amniorrhexis,spontaneous abortion,infection,amniotic fluid embolism or fetal damage.Of 21 fetues,six fetuses had the SMN1 deletion and were aborted.The other 15 fetuses,3 carriers and 15 normal individuals were born.The 15 born babies were all normal,Induction and the fetus after birth were confirmed by further genetic analysis,the results fully consistent with the prenatal diagnosis.Conclusion Amniocentesis under ultrasonic guidance is a safe and effective way of prenatal diagnosis of spinal muscular atrophy(SMA).Not only prenatal diagnosis SMA and exclude maternal blood contamination,But also prenatal diagnosis gene carriers and perfect the system of prenatal diagnosis of SMA by combined with the technique of PCR-RFLP and STR linkage analysis.
出处
《中国产前诊断杂志（电子版）》
2011年第1期13-16,共4页
Chinese Journal of Prenatal Diagnosis(Electronic Version)
关键词
超声引导
羊膜腔穿刺
脊髓性肌萎缩症
产前
基因诊断
Ultrasounic guidance
Amniocentesis
Spinal muscular atrophy
Antepartum
Gene diagnosis
