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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。4ml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。
Objective To analyze the application of noninvasive prenatal diagnosis of 12 cases of chromosomal abnormalities in 12 cases and explore the application prospect of this technique in prenatal diagnosis. Methods Twelve patients underwent pregnancy with venous blood at about 16W and serum and plasma were separated. Serum in our laboratory triple serology prenatal screening. 4 ml of plasma was sent to Shenzhen Huada Gene Co., Ltd. for sequencing analysis by using the second-generation sequencing technology. 20 ml of amniotic fluid was drawn at about 18 weeks of gestation for amniotic fluid cell culture and karyotype analysis. Results The third trimester serological screening showed that there were 2 high 18-trisomy patients, 10 high risk 21-trisomy patients and 6 high-risk patients in age group. Noninvasive prenatal diagnosis was used to diagnose 21 cases of trisomy 10 and 18 - trisomy in 2 cases; chromosome karyotype analysis of 21-trisomy in 10 cases, 18-trisomy in 2 cases. Conclusion Noninvasive prenatal diagnosis has the advantages of noninvasive, accurate and rapid diagnosis. The technique has good clinical application prospects.