国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2014, Vol. 33 ›› Issue (3): 157-161.

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染色体微阵列芯片分析技术应用于产前诊断的关键问题探讨

安宇，吴柏林   

  1. 200032上海，复旦大学生物医学研究院
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2014-05-15 发布日期:2014-05-15
  • 通讯作者: 安宇

Application of Chromosomal Microarray Analysis in Prenatal Diagnosis: Some Essential Issues

AN Yu, WU Bai-lin   

  1. Institute of Biomedical Sciences, Fudan University, Shanghai 200032, China
  • Received:1900-01-01 Revised:1900-01-01 Published:2014-05-15 Online:2014-05-15
  • Contact: AN Yu

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摘要： 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。

关键词: 芯片分析技术, 微阵列分析, 生殖技术, 辅助, 基因组, 杂交, 遗传, 产前诊断, 微缺失微重复综合征

Abstract: 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 microduplication 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 Obstetricians 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 application of CMA in prenatal diagnosis were carefully discussed, and the significance and necessity of the genetic counseling in pretest and posttest were also emphasized.

Key words: Microchip analytical procedures, Microarray analysis, Reproductive techniques, assisted, Genome, Hybridization, genetic, Prenatal diagnosis, Microdeletion and microduplication syndrome