染色体微阵列芯片分析技术应用于产前诊断为关键问题探讨

摘要

Chromosome microarray analysis(CMA), including array CGH and SNP array, was used in the invasive prenatal diagnosis of chorionic villus or amniocentesis samples to detect microdeletion and microduplica-tion in the whole genome. Compared with the conventional karyotyping and FISH methods, CMA with advantages of high throughput, high resolution and high automation can detect synchronously many abnormalities in genome related to birth defects and congenital diseases. This review summarized the recent large multicenter prospective studies about use of CMA in prenatal diagnosis, and recommendations from the American College of Obstetri-cians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine(SMFM). Some essential issues were addressed, such as the microarray type, the appropriate women for testing, sampling and the detection window, the data analysis and interpretation in genetic counseling. In addition, the opportunity and challenge during ap-plication of CMA in prenatal diagnosis were carefully discussed, and the significance and necessity of the genetic counseling in pretest and posttest were also emphasized.%染色体微阵列芯片分析（CMA）包括比较基因组杂交微阵列（array CGH）和单核苷酸多态微阵列（SNP array），可以在全基因组范围内高分辨检测染色体的微缺失和微重复，与传统染色体核型分析和荧光原位杂交（FISH）检测相比，具有高通量、高分辨率和高自动化检测的优势，同时可以一次性同步检测许多与出生缺陷和先天性疾病相关的基因组异常，近年来已经开始应用于侵入性产前诊断。回顾近年来多个大样本和多中心的临床试验对CMA技术用于产前诊断的研究结果，借鉴美国妇产科医师协会（ACOG）和母婴医学协会（SMFM）发布的CMA在产前诊断应用中的建议，对CMA在应用过程中如何选择微阵列芯片类型、检测的适用对象和检测的时期、检测结果的解释以及相关的遗传咨询等关键问题进行了详细讨论，并指出CMA在产前诊断应用中面临的机遇和挑战，以及检测前和检测后遗传咨询在实际应用中的重要性和必要性。