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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 investigate the clinical value and feasibility of amniotic fluid microarray comparative genomic hybridization (aCGH) gene chip in the second and third trimester of pregnancy. Methods: Interventional prenatal diagnosis of indications in the second and third trimester of pregnancy, but pregnant women unwilling to umbilical cord puncture of single pregnant women for amniocentesis, 10ml amniotic fluid extraction, aCGH analysis (401 cases of single amniotic fluid aCGH group) , And compared with the cases of conventional karyotype analysis of cord blood (755 cases, karyotype analysis group), the detection rate of abnormal chromosomes, the report time, the postoperative complication and the detection failure rate were compared. Results: The detection rate of abnormal chromosome in aCGH group (8.5%) was higher than that in karyotype analysis group (4.0%) (P <0.05). A single amniotic fluid aCGH group issued a report of time 7 to 10 days, shorter than the traditional cord blood karyotype analysis of time 14 to 21 days. The single-amniotic fluid aCGH group failed to detect (0) lower than the karyotype group (1.6%) (P <0.05). There was no significant difference in the incidence of preterm birth, threatened preterm labor and intrauterine fetal death between the two groups (P> 0.05). Conclusion: The amniotic fluid microarray analysis is feasible in the second and third trimester of pregnancy, which has some advantages over traditional karyotype analysis of cord blood.