| 谷孝艳,杨喜惠,郝晓艳,张烨,孙琳,韩建成,刘晓伟,何怡华.产前超声诊断胎儿房室间隔缺损及基因检测分析[J].中国医学影像技术,2020,36(6):918~922 |
| 产前超声诊断胎儿房室间隔缺损及基因检测分析 |
| Prenatal echocardiographic diagnosis and genetic analysis of fetal atrioventricular septal defect |
| 投稿时间：2019-06-24 修订日期：2020-02-14 |
| DOI：10.13929/j.issn.1003-3289.2020.06.029 |
| 中文关键词: 胎儿 心脏缺损,先天性 超声心动描记术 基因 |
| 英文关键词:fetus heart defects, congenital echocardiography genes |
| 基金项目:十三五国家重点研发计划（2018YFC1002300）。 |
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| 中文摘要: |
| 目的 评估胎儿房室间隔缺损（AVSD）的分型及其合并畸形，并以二代测序技术分析AVSD基因特征。方法 150胎超声诊断AVSD，其中47胎接受基因检测，对其超声心动图图像进行分析，评估AVSD分型及其心内外合并畸形，并对47胎脐带组织即其父母外周血行全基因组及全外显子测序。结果 47胎中，7胎（7/47，14.89%）为部分型AVSD，2胎（7/47，4.26%）为过渡型，38胎（38/47，80.85%）为完全型AVSD；其中27胎（27/47，57.44%）合并心内畸形，19胎（19/47，40.43%）合并心外畸形，14胎（14/47，29.79%）合并心内及心外畸形。基因检测结果显示4胎组织降解；43胎获得明确结果，其中22胎（22/43，51.16%）基因结果阳性，在合并心内畸形、心外畸形及同时合并心内外畸形胎儿中分别占40.47%（11/27）、73.68%（14/19）和78.57%（11/14）。结论 胎儿AVSD、尤其完全型AVSD易合并心内及心外畸形。AVSD多见基因异常，合并心外畸形时更易发生染色体异常，产前超声发现AVSD时应行遗传学检测。二代测序技术有助于发现不同水平基因异常。 |
| 英文摘要: |
| Objective To observe the types and accompanied malformations of fetal atrioventricular septal defect (AVSD), and to analyze the characteristics of AVSD gene with second-generation sequencing. Methods Data of 150 AVSD fetuses diagnosed with ultrasound were reviewed, including 47 fetuses underwent genetic testing. Echocardiographic images were analyzed, and the types and accompanied intracardiac and extracardiac malformations were evaluated. Then the whole genome and whole exon sequencing were performed together with peripheral blood of the parents and umbilical cord tissue from 47 samples. Results There were 7 (7/47, 14.89%) partial type, 2 (2/47, 4.26%) transitional type and 38 (38/47, 80.85%) complete type AVSD, Among 47 fetuses, including 27 (27/47, 57.45%) associated intracardiac malformation, 19 (19/47, 40.43%) with associated extracardiac malformation and 14 (14/47, 29.79%) with both intracardiac and extracardiac malformation. Tissue degradation was found in 4 samples during genetic testing, while results were obtained in 43 samples including 22 (22/43, 51.16%) positive ones. The positive rate of genomic studies in AVSD fetuses with accompanied intracardiac malformation was 40.74% 11 (11/27), in AVSD with accompanied extracardiac malformation was 73.68% (14/19), while in AVSD with both intracardiac and extracardiac malformation was 78.57%(11/14). Conclusion Fetal AVSD, especially complete type AVSD has obvious association with extracardiac and intracardiac malformations. Genomic abnormalities are common in AVSD, chromosomal abnormalities are more likely to occur when AVSD combined with extracardial malformations. Genetic testing is necessary when AVSD is diagnosed with prenatal ultrasound. Second-generation sequencing technology is conducive for detection of different levels of genetic abnormalities. |
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