染色体微阵列分析技术在马蹄足内翻胎儿产前诊断中的应用  

Application of chromosomal microarray analysis for fetuses with talipes equinovarus

作　　者：郭乔丽[1] 符芳[1] 李茹[1] 景象一 雷婷缨 韩瑾[1] 杨昕[1] 甄理[1] 潘敏[1] 廖灿[1] 

机构地区：[1]广州医科大学附属广州市妇女儿童医疗中心优生围产研究所,510623

出　　处：《中华妇产科杂志》2016年第7期484-490,共7页Chinese Journal of Obstetrics and Gynecology

基　　金：广东省科学技术厅公益研究与能力建设专项重点项目（20148020213001）;广东省科学技术厅面上项目（20138022000005）;广州市科技和信息化局科技惠民专项重点项目（2014Y200059）

摘　　要：目的：探讨染色体微阵列分析技术（CMA）在马蹄足内翻（TE）胎儿产前诊断中的应用。方法选取2012年5月至2015年6月经产前超声检查提示为TE、伴或不伴有其他结构畸形并行侵入性产前诊断的54例胎儿，根据是否合并其他结构异常分成单纯TE组及复杂TE组。所有胎儿均行常规染色体核型分析，核型正常者再进一步行全基因组高分辨率CMA检测，并应用CHAS软件及相关的生物信息学方法分析CMA检测结果。对所有胎儿进行随访，了解妊娠结局及产后诊治情况。结果54例TE胎儿中，常规染色体核型分析发现1例核型异常，为18三体，核型异常比例为2%（1/54）。核型正常的53例胎儿中单纯TE组38例、复杂TE组15例，进一步行CMA检测，致病性拷贝数变异（CNV）检出率为11%（6/53），单纯TE组和复杂TE组的致病性CNV检出率分别为5%（2/38）及4/15，两组比较，差异有统计学意义（P=0.047）。对53例胎儿进行随访，51例随访成功，其中11例出生时无足内翻表现，产前超声诊断为TE的假阳性率为22%（11/51）。结论常规染色体核型分析技术对TE伴或不伴其他结构畸形的胎儿的异常核型检出率为2%，CMA技术对核型正常的TE胎儿的致病性CNV的检出率提高至11%。结合产前超声诊断TE的假阳性率及两组致病性CNV的检出率，建议核型正常的TE合并其他畸形的胎儿进一步行全基因组高分辨率CMA检测，以排除染色体微缺失或微重复的可能性；单纯TE胎儿建议行连续超声复查，如复查结果仍提示为TE，则建议行CMA检测，以降低侵入性产前诊断率及假阳性率。Objective To investigate the application of fetuses with talipes equinovarus （TE） using chromosomal microarray analysis （CMA） technology. Methods From May 2012 to June 2015, 54 fetuses were found with TE and with or without other structural anomalies by prenatal ultrasound. Karyotyping was taking for them all, and the fetuses with normal karyotypes took another CMA test. The data were analyzed with CHAS software. Finally all the cases were followed up to know about their pregnancy outcomes. Results One of the 54 cases was detected with abnormal karyotype which was trisomy 18 （2%, 1/54）. CMA was undertaken to the remaining fetuses, they were divided into 2 groups, including isolated TE group （n=38） and complex TE group （n=15）. The detection rate of clinical significant copy number variations （CNV） by CMA was 11% （6/53）, while isolated and complex TE group were 5% （2/38） and 4/15, respectively （P=0.047）. Of the 53 cases, 51 cases were successfully followed up. Eleven cases were found without TE after birth, and the false positive rate （FPR） of TE was 22%（11/51）. Conclusions Whole-genome high-resolution＆amp;nbsp;CMA increased the detection rate by 11% in fetuses with TE. With the FPR and the detection rate of the clinical significant CNV of 2 groups, whole-genome CMA could be recommended to the fetuses with complex TE group but normal karyotypes. A series of ultrasonic tests should be suggested to the isolate TE group, while with the abnormal ultrasound, fetuses would be suggested to have CMA test for decreasing the rates of invasive prenatal diagnosis and FPR.

关 键 词：畸形足 染色体 人 微阵列分析 超声检查 产前 DNA拷贝数变异 核型分析 

分 类 号：R714.5[医药卫生—妇产科学]