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Abstract：
UNASSIGNED: Chromosomal microarray analysis (CMA) has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. The aim of this study was to compare the accuracy and value of CMA and karyotyping on diagnosis of chromosomal abnormalities in Fujian province of South China.In the study, 410 clinical samples were collected from pregnant women between March 2015 and December 2016, including 3 villus (0.73%, 3/410), 296 amniotic fluid (72.20%, 296/410), and 111 umbilical cord blood (27.07%, 111/410). All samples were screening for chromosomal abnormalities by both using CMA and karyotyping.The success rate of CMA and karyotyping was 100% (410/410) and 99.27% (407/410), respectively. Sixty-one (14.88%, 61/410) samples were presented with chromosomal abnormalities by using CMA, whereas 47 (11.55%, 47/407) samples were shown with chromosomal abnormalities by using karyotyping. Thirty-one (8.61%, 31/360) samples with normal karyotypes were found to exist chromosomal abnormalities by using CMA. Receiver operating characteristic analysis showed that the area under the curve of karyotyping on the diagnosis of chromosomal abnormalities was 0.90 (95% confidence interval: 0.87-0.93), the sensitivity and specificity was 87.56% and 91.22%, respectively. The area under the curve of CMA on the diagnosis of chromosomal abnormalities was 0.93 (95% confidence interval: 0.90-0.95), with 90.68% sensitivity and 94.40% specificity. Notably, the combination of CMA and karyotyping could improve the diagnosis of chromosomal abnormalities.CMA has a better diagnostic value for screening chromosomal abnormalities, especially for those pregnant women with normal karyotypes. This study has guiding value for prenatal diagnosis in Fujian province of South China.
摘要：
UNASSIGNED：染色体微阵列分析（CMA）已成为评估儿童发育迟缓和结构畸形的主要诊断工具。本研究的目的是比较CMA和核型分析在中国南方福建省染色体异常诊断中的准确性和价值。在研究中,从2015年3月至2016年12月之间的孕妇中收集了410个临床样本，包括3个绒毛（0.73％，3/410),296羊水（72.20%，296/410），和111脐带血（27.07%，111/410)。所有样品均通过使用CMA和核型分析来筛查染色体异常。CMA和核型检测的成功率分别为100%(410/410)和99.27%(407/410),分别。61（14.88%，61/410)样品通过使用CMA呈现染色体异常，而47(11.55%，47/407）通过核型分析显示样本具有染色体异常。31（8.61%，31/360)用CMA发现核型正常的样本存在染色体异常。受试者工作特征分析显示,染色体异常诊断的核型曲线下面积为0.90(95%置信区间:0.87-0.93),敏感性和特异性分别为87.56%和91.22%,分别。CMA诊断染色体异常的曲线下面积为0.93(95%置信区间:0.90-0.95),敏感性为90.68%，特异性为94.40%。值得注意的是,CMA和核型分析的结合可以提高染色体异常的诊断。CMA对筛查染色体异常有较好的诊断价值,尤其是那些核型正常的孕妇。本研究对福建省产前诊断具有指导意义。
