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目的探讨羊水染色体核型分析的临床价值,为产前咨询与诊断提供依据。方法对孕17—26周的1009例高龄孕妇行羊膜腔穿刺抽取羊水,培养羊水中胎儿脱落细胞、收获、G显带核型分析胎儿染色体核型。结果 1009例高危孕妇中,检出变异染色体核型86例,变异率达到8.5%。其中21三体16例,检出率为1.58%,18三体4例,检出率0.4%;性染色体异常9例,检出率0.9%。结论产前诊断能够掌握先机,为后代生殖做好指导,对可治性疾病选择适当时机进行宫内治疗,对于不可治疗性疾病,能够做到知情选择,避免出生缺陷儿出生。
Objective To investigate the clinical value of karyotype analysis of amniotic fluid chromosome and provide basis for prenatal counseling and diagnosis. Methods 1009 pregnant women with gestational age from 17 to 26 weeks received amniocentesis by amniocentesis and cultured fetal exfoliated cells in amniotic fluid. The fetal karyotypes were analyzed by G-banding karyotype. Results Of the 1009 high-risk pregnant women, 86 cases of mutation karyotype were detected, the mutation rate reached 8.5%. Among them, 21 trisomy in 16 cases, the detection rate of 1.58%, 18 trisomy in 4 cases, the detection rate was 0.4%; 9 cases of sex chromosome abnormalities, the detection rate of 0.9%. Conclusions Prenatal diagnosis can seize the initiative to guide future generations of reproduction and choose the appropriate timing for curable diseases for intrauterine treatment. For incurable diseases, we can make informed choices and avoid the birth of birth defects.