羊水基因芯片在中晚孕期的临床应用价值分析

发布时间：2018-05-07 13:36

本文选题：基因芯片 + 中晚孕期　；参考：《实用妇产科杂志》2017年04期

【摘要】：目的:探讨羊水微阵列比较基因组杂交技术(aCGH)基因芯片在中晚孕期的临床应用价值及可行性。方法:对中晚孕期有介入性产前诊断指征,但孕妇不愿进行脐血穿刺的单胎孕妇进行羊膜腔穿刺术,抽取10ml羊水,应用aCGH进行分析(401例,单一羊水aCGH组),并与传统脐血染色体核型分析的病例(755例,染色体核型分析组)进行异常染色体检出率、检测出报告时间、术后并发症及检测失败率的比较。结果:单一羊水aCGH组的异常染色体检出率(8.5%)高于染色体核型分析组(4.0%),差异有统计学意义(P0.05)。单一羊水aCGH组发放报告的时间为7~10天,短于传统脐血染色体核型分析时间14~21天。单一羊水aCGH组检测失败率(0)低于染色体核型分析组(1.6%)(P0.05)。两组早产、先兆早产及胎死宫内发生率比较,差异无统计学意义(P0.05)。结论:中晚孕期羊水基因芯片分析是可行的,比传统脐血染色体核型分析有一定的优势。
[Abstract]:Objective: to investigate the clinical value and feasibility of amniotic fluid microarray comparative genomic hybridization (CGH) gene chip in middle and late pregnancy. Methods: one hundred and forty one pregnant women who were not willing to perform umbilical cord blood puncture were treated with amniocentesis to extract 10ml amniotic fluid. 401 cases of amniotic fluid were analyzed with aCGH. The detection rate of abnormal chromosomes in the aCGH group was compared with that in the traditional umbilical cord blood chromosome karyotype analysis group (755 cases), and the detection time, postoperative complications and failure rate were compared between the single amniotic fluid (amniotic fluid) group and the traditional umbilical cord blood chromosome karyotype analysis group (n = 755). Results: the detection rate of abnormal chromosomes in aCGH group was higher than that in chromosome karyotype analysis group (P 0.05). In single amniotic fluid (aCGH) group, the time of issuing the report was 710 days, which was 1421 days shorter than that of traditional umbilical cord blood chromosome karyotype analysis. The failure rate of single amniotic fluid (aCGH) group was lower than that of chromosome karyotype analysis group (P 0.05). There was no significant difference in the incidence of premature delivery, threatened preterm delivery and fetal death between the two groups (P 0.05). Conclusion: the microarray analysis of amniotic fluid in middle and late pregnancy is feasible and has some advantages over the traditional analysis of chromosome karyotype in umbilical cord blood.
【作者单位】：广州医科大学附属第三医院广东省产科重大疾病重点实验室;香港中文大学妇产科系;
【基金】：国家自然科学基金青年科学基金项目(编号:81402652)
【分类号】：R440;R714.5

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