CAJ | 학술논문

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。
염색체미진렬심편분석（CMA）포괄비교기인조잡교미진렬（array CGH）화단핵감산다태미진렬（SNP array），가이재전기인조범위내고분변검측염색체적미결실화미중복，여전통염색체핵형분석화형광원위잡교（FISH）검측상비，구유고통량、고분변솔화고자동화검측적우세，동시가이일차성동보검측허다여출생결함화선천성질병상관적기인조이상，근년래이경개시응용우침입성산전진단。회고근년래다개대양본화다중심적림상시험대CMA기술용우산전진단적연구결과，차감미국부산과의사협회（ACOG）화모영의학협회（SMFM）발포적CMA재산전진단응용중적건의，대CMA재응용과정중여하선택미진렬심편류형、검측적괄용대상화검측적시기、검측결과적해석이급상관적유전자순등관건문제진행료상세토론，병지출CMA재산전진단응용중면림적궤우화도전，이급검측전화검측후유전자순재실제응용중적중요성화필요성。
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.