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目的利用病残鉴定平台加强对DMD和SMA高风险家庭再生育的优生指导,中断该家庭的遗传链。方法通过病残鉴定平台明确14例DMD患儿、6例SMA患儿及父母的致病基因类型,再生育时从孕前开始进行优生相关宣传教育、指导产前检查及产前诊断,明确胎儿基因型及选择性终止妊娠,随访新生儿情况评价干预成效。结果 14个DMD高风险家庭申请再生育,11例怀孕并产前诊断,2例胎儿被确诊患胎引产;5个SMA高风险家庭申请再生育,4例怀孕并产前诊断,其中1例胎儿确被诊为患胎引产。结论通过病残鉴定平台可有效指导并监控遗传病高风险家庭再生育情况,降低遗传病患儿出生。
OBJECTIVE To improve the genetic predisposition of family reincubation of DMD and SMA with high risk by using the identification platform of disability disability. Methods The disease-causing genotypes of 14 cases of DMD and 6 cases of SMA children and their parents were identified through the identification platform of disability. During the reproductive period, prenatal education, prenatal diagnosis and prenatal diagnosis were conducted. The fetal genes Type and selective termination of pregnancy, follow-up of neonatal evaluation of the effectiveness of intervention. Results Fourteen DMD high-risk families were asked for fertility, 11 pregnant and prenatal diagnosed, 2 fetuses diagnosed with fetus induced labor, 5 SMA high-risk families for fertility, 4 pregnant and prenatal diagnosis, 1 fetus It was diagnosed with fetus induced labor. Conclusion The platform for the identification of the disabled patients can effectively guide and monitor the re-birth of high-risk families with genetic diseases and reduce the birth of children with genetic diseases.