【摘要】 目的 探究不同检测方法对高危产妇胎儿染色体异常检出率的诊断价值。方法 回顾性分析2018年1月-2022年8月在本院接受羊水穿刺，进行染色体核型分析以及染色体微阵列分析（CMA）检测的1130例高危产妇资料，对两种方法的检测结果进行比较和分析。结果 总共检出异常例数142例，总检出率为12.57%。染色体核型分析检测成功1128例，检测成功率为99.82%，共检出染色体异常96例，染色体异常检出率为8.51%;CMA检测成功率为100%，染色体异常108例，染色体异常检出率为9.56%，其中两种方法均检出异常。两种检测方法染色体异常检出率比较，差异无统计学意义（P>0.05）；不同产前诊断指征孕妇的染色体异常检出率比较，差异有统计学意义（P<0.05）。结论 染色体核型分析仍然是检测染色体异常的金标准，CMA检测可以有效提高高危产妇胎儿染色体拷贝数异常(<10Mb)的检出率，为精准产前诊断提供依据。更多还原

【Abstract】 Objective To explore the diagnostic value of different detection methods for the detection rate of fetal chromosomal abnormalities in high-risk parturients. Methods The data of 1130high-risk parturients who received amniocentesis in our hospital from January 2018 to August 2022were analyzed retrospectively, and the results of the two methods were compared and analyzed.Results A total of 142 abnormal cases were detected, with a total detection rate of 12.57%. 1128cases were successfully detected by karyotype analysis, with a success rate of 99.82%. 96 cases of chromosome abnormalities were detected, with a detection rate of 8.51%; the success rate of CMA detection was 100%. There were 108 cases of chromosomal abnormalities, and the detection rate of chromosomal abnormalities was 9.56%. Both methods detected abnormalities. There was no significant difference in the detection rate of chromosome abnormalities between the two methods(P> 0.05);there was significant difference in the detection rate of chromosomal abnormalities among pregnant women with different prenatal diagnosis indications(P<0.05). Conclusion Karyotype analysis is still the gold standard for detecting chromosomal abnormalities. CMA detection can effectively improve the detection rate of fetal chromosomal copy number abnormalities(<10Mb) in high-risk parturients,providing a basis for accurate prenatal diagnosis.更多还原