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目的研究遗传咨询患者中罗伯逊易位对优生优育的影响,降低出生缺陷率。方法罗伯逊易位携带者再次妊娠至孕中期(16-25周)进行羊膜腔穿刺、细胞培养、染色体分析,诊断胎儿是否染色体异常,并对出生儿童随访、结果进行分析研究。结果 14例妊娠至中期(18-24周),3例正常染色体核型、4例携带者,继续妊娠;7例异常染色体核型,其中易位型21-三体5例、易位型13-三体2例,建议引产。结论罗伯逊易位与流产、生育21-三体型患儿密切相关,其携带者夫妇妊娠时应做产前诊断。
Objective To study the effect of Robertsonian translocation in genetic counseling on prenatal and postnatal care, and to reduce the birth defect rate. Methods Robertsonian translocators were pregnant again to the second trimester (16-25 weeks) for amniocentesis, cell culture and chromosome analysis to diagnose whether the fetus had chromosomal abnormalities. The follow-up results of the children were also analyzed. Results Fourteen pregnancies to mid-term (18-24 weeks), three normal karyotypes, and four carriers continued pregnancy. Seven cases had abnormal chromosome karyotypes, including 5 translocations of 21-trisomy and 13 translocations - trisomy in 2 cases, it is recommended induction of labor. Conclusion Robertson’s translocation is closely related to the abortion and childbirth of 21-trisomy. The prenatal diagnosis should be done when the carriers carry the couple.