目的对DMD基因携带者行胚胎植入前遗传学诊断,以阻断患儿的出生。方法对1例DMD基因第10~30号外显子缺失突变的女性携带者行卵泡质内单精子显微注射授精,采用多重置换扩增技术行全基因组扩增,并行DMD基因检测和单倍体型分析。选择健康优质胚胎移植入子宫,分别于孕中期和分娩时进行遗传学检测,并进行为期3年的随访。结果携带者第2个胚胎植入前遗传学诊断周期获得成功,共获得7个胚胎共14个单卵裂球,多重置换扩增成功率为13/14,等位基因脱扣率为18.75%(18/96)。移植3个健康优质胚胎并获双胎妊娠,孕16周时采集羊水行基因检测未见DMD基因突变,孕35周时行剖宫产生产1名正常男婴和1名正常女婴,外周血基因检测结果与胚胎植入前遗传学诊断和孕中期产前诊断结果一致。随访3年,幼儿生长发育、运动功能和动态血清肌酸激酶水平均正常。结论经胚胎植入前遗传学诊断出生的正常婴儿生长发育良好。 Objective To carry out preimplantation genetic diagnosis of DMD gene carriers to block the birth of children. Methods Female fetuses with exon 10 to exon 10 of DMD gene were injected intraperitoneally with microinjection of single sperm in the follicle to amplify the whole genome. Multiplex amplification was used to amplify the whole genome. Parallel DMD gene detection and haploid type analysis. Healthy healthy embryos were selected and transferred into the uterus. Genetic tests were performed during the second trimester and during childbirth. The patients were followed up for 3 years. Results The second cycle of preimplantation genetic diagnosis was successful. A total of 14 single blastomeres were obtained from 7 embryos. The success rate of multiple replacement amplification was 13/14 and the allele rate was 18.75% (18/96). Three healthy high-quality embryos were transplanted and got twin pregnancies. No genetic mutation of DMD gene was detected in the amniotic fluid collected at 16 weeks ’gestation. One normal and one normal baby was produced by cesarean section at 35 weeks’ gestation. The results were consistent with the preimplantation genetic diagnosis and the second trimester prenatal diagnosis. After 3 years of follow-up, young children’s growth and development, motor function and serum creatine kinase level were normal. Conclusion Normal infants diagnosed by preimplantation genetic diagnosis develop well.