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目的评价羊水细胞染色体分析,荧光原位杂交技术和产前无创基因检测对诊断胎儿染色体异常的临床应用价值。方法对589例唐氏筛查和(或)超声检查高风险的孕妇,依照具体情况,运用羊水细胞染色体分析,荧光原位杂交及产前无创基因检测等手段进行产前诊断。结果 589例孕妇中确诊10例唐氏综合征胎儿,3例18-三体,其他染色体异常2例;确诊神经管缺陷胎儿26例。结论产前筛查和产前诊断可减少缺陷儿的出生,具有明显的经济效益和社会效益,是落实优生优育政策非常有效的技术手段。
Objective To evaluate the clinical value of amniotic fluid cell chromosome analysis, fluorescence in situ hybridization and prenatal noninvasive gene testing in the diagnosis of fetal chromosomal abnormalities. Methods 589 cases of Down’s screening and / or high-risk ultrasound pregnant women, according to the specific circumstances, the use of amniotic fluid cell chromosome analysis, fluorescence in situ hybridization and prenatal non-invasive gene detection means such as prenatal diagnosis. Results Among 589 pregnant women, 10 fetuses with Down’s syndrome were diagnosed, 3 cases had 18-trisomy, and 2 cases had other chromosomal abnormalities. Twenty-six cases of fetal neural tube defects were diagnosed. Conclusion Prenatal screening and prenatal diagnosis can reduce the birth of defective children, with obvious economic and social benefits. It is a very effective technical means to implement the prenatal and postnatal care policy.