应用无创性产前诊断技术诊断染色体数目异常及临床分析

目的通过分析12例应用无创性产前诊断技术诊断染色体数目异常病例，探讨该技术进行产前诊断的应用前景。方法12例患者于孕16W左右抽孕妇静脉血，分别分离血清和血浆。血清在本实验室进行三联血清学产前筛查。4m1血浆送深圳华大基因有限公司，应用二代测序技术进行测序分析；于孕18w左右均抽取羊水20ml进行羊水细胞培养和染色体核型分析。结果上述标本孕中期三联血清学筛查提示18-三体高风险2例、21-三体高风险10例，其中年龄高风险6例；应用无创性产前诊断技术诊断21-三体10例，18-三体2例；染色体核型分析21-三体10例，18-三体2例。结论无创性产前诊断技术具有无创、准确、快速的诊断优势，该技术具有良好的临床应用前景。

Clinical analysis of 12 cases chromosomal abnormalities by using of noninvasive prenatal diagnostic techniques,

Objective： Analyzing 12 cases of chromosomal abnormalities diagnosed by noninvasive prenatal diagnostic techniques and exploring potential applications for prenatal diagnosis. Methods： Serum and plasma were isolated from venous blood around pregnancy of 16W in 12 pregnant women. Serum was used for the purpose of serological prenatal screening in our laboratory. 4ml plasma were tested by BGI Shenzhen by using of the second-generation sequencing technology. About 20ml of amniotic fluid samples were taken from those patients around 18W of gestational age. Anmiotic fluid cell culture and karyotype analysis has been taken for all samples. Results： The second trimester serum screening shows 2 cases with high risk of trisomy 18, 10 cases with high risk of trisomy 21, 6 cases with high-risk of age. 10 cases of trisomy 21 and 2 cases of trisomy 18 were diagnosed by application of noninvasive prenatal diagnostic techniques. Amaiotic fluid cell karyotyping shows 10 cases of trisomy 21 and 2 cases of trisomy 18. Conclusion： Noninvasive prenatal diagnostic techniques have the advantage of non-ifivasive, accurate and time saving. Ithasgood prospects of clinical applications.