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应用脐带穿刺术对3例夫妇一方为染色体易位携带者的孕妇进行了产前诊断,穿刺1次成功,获取脐血后72h即可进行核型分析,染色体标本分裂相当多,带纹细腻清晰,弥补了用绒毛和羊水进行产前诊断的不足。正常分娩后随访1~4a,小儿体格、智力发育均正常。还探讨了不同的染色体易位对生育的影响,并对携带者家系进行了染色体核型分析。
The application of umbilical cord puncture for prenatal diagnosis of 3 pregnant women with one couple chromosome translocation carrier was successful in one puncture. Karyotype analysis was performed at 72 hours after cord blood was obtained. There was a considerable number of chromosomes dividing and delicate stripes , To make up for the lack of prenatal diagnosis of villus and amniotic fluid. Follow-up after normal delivery 1 ~ 4a, pediatric physical, mental development were normal. The effects of different chromosomal translocations on fertility were also explored. Chromosomal karyotype analysis of pedigrees was carried out.