羊水基因芯片在中晚孕期的临床应用价值分析

Analysis the Clinical Application Value of Amniotic Fluid aCGH in Second-Third Trimester

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(P<0.05)。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%)(P<0.05)。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(P>0.05)。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。

Objective：To explore the application value and feasibility of amniotic fluid aCGH in second-third tri- mester. Methods：For women who had singleton pregnancies with the indications of invasion test and unwilling- ness of fetal blood sampling in second-third trimester,they were performed amniocentesis extracting of 10 ml of the amniotic fluid and were offered aCGH analysis（401 cases, aCGH group）. The result time, relevance ratio, complications and failure rate were compared with the singleton pregnancies,which underwent fetal blood karyo- type analysis（755 cases, karyotype group）. Results ：The relevance ratio of aCGH group（8.5% ） was significant- ly higher than that of karyotype group（4.0% ） （ P〈0. 05） ,the result time of aCGH group（7 - 10 days） was sig- nificantly shorter than that of karyotype group（14 -21 days） ,the failure rate of aCGH group（0） was significantly lower than that of karyotype group（1.6% ）（ P 〈 0.05） ,and the incidence rate of postoperative complications rate （including preterm labor, threatened preterm labor and intrauterine death） was not different between the two groups（ P 〉0.05）. Conclusions：In second-third trimester,amniotic fluid aCGH is feasible and it had certain ad- vantages than fetal blood karyotype analysis.