染色体微阵列分析在超声检查发现胎儿异常的产前诊断中的应用
[Application of chromosomal microarray analysis in prenatal diagnosis for fetal abnormalities detected by ultrasonography].
作者信息
Hu Ting, Wang Jiamin, Zhang Zhu, Zhu Hongmei, Liu Hongqian, Zhang Xuemei, Zhang Haixia, Du Ze, Li Lingping, Wang He, Liu Shanling
机构信息
Department of Obstetrics and Gynecology, Key Laboratory of Birth Defects and Related Diseases of Women and Children of the Ministry of Education, West China Second Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Jun 10;34(3):317-320. doi: 10.3760/cma.j.issn.1003-9406.2017.03.001.
OBJECTIVE
To analyze the outcome of chromosomal microarray analysis (CMA) in prenatal diagnosis for fetal abnormalities detected by ultrasonography.
METHODS
Amniotic fluid samples from 477 pregnancies with abnormal ultrasound findings but without common aneuploidies were detected by CMA with Affymetrix CytoScan 750K arrays. The results were analyzed with ChAS v3.0 software.
RESULTS
Among the 477 samples, 24 (5.03%) were detected with pathogenic copy number variations (pCNVs) by CMA. Six (9.68%) among 62 cases with structural fetal abnormalities in multiple organ systems were detected with pCNVs, 11 (7.48%) among 147 cases with a single structural anomaly were detected with pCNVs, and 7 (2.61%) among 268 cases with a soft marker were detected with pCNVs.
CONCLUSION
CMA has offered a clear advantage over conventional karyotyping for the detection of fetal chromosomal abnormalities, and can provide an effective diagnostic tool for those with one or more structural abnormalities detected by ultrasound.
目的
分析染色体微阵列分析（CMA）在产前诊断超声检查发现的胎儿异常中的结果。
方法
对477例超声检查结果异常但无常见非整倍体的妊娠羊水样本，采用Affymetrix CytoScan 750K芯片进行CMA检测。结果用ChAS v3.0软件进行分析。
结果
在477份样本中，CMA检测到24份（5.03%）存在致病性拷贝数变异（pCNV）。在62例多器官系统胎儿结构异常病例中，6例（9.68%）检测到pCNV；在147例单一结构异常病例中，11例（7.48%）检测到pCNV；在268例有软指标病例中，7例（2.61%）检测到pCNV。
结论
CMA在检测胎儿染色体异常方面比传统核型分析具有明显优势，可为超声检查发现一处或多处结构异常的患者提供有效的诊断工具。
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