目的 通过描述两例假肥大型肌营养不良家系病例，探讨该病的遗传咨询及产前诊断。 方法 对两例假肥大型肌营养不良的先证者利用多探针连接依赖的扩增技术（multiplex ligation-dependent probe amplification, MLPA）方法基因确诊，遗传咨询后，分别于孕13+周和孕21+周抽取绒毛和羊水行胎儿产前诊断，明确胎儿基因情况。结果 两例胎儿产前诊断的结果分别为未检出母亲缺失基因突变和DMD基因45-53纯合突变，其中后一例选择终止妊娠。结论 通过及时的产前诊断及有效的遗传咨询，可减少假肥大型肌营养不良患者的出生，达到优生优育的目的。
Objective To discuss the prenatal diagnosis and genetic counselling in two families with pseudohypertrophic muscular dystrophy. Method We detected gene mutation in two propositus and collected the chorionic villus at 13 weeks of gestation and amniotic fluid cell at 21 weeks of gestation to analyze whether there was gene mutation in fetus. Results The first fetus was not detected the gene mutation; however we found the homozygous gene mutation in second fetus which was induced labor. Conclusions We can prevent the birth of the fetus with pseudohypertrophic muscular dystrophy through effective prenatal diagnosis.
