| 摘要: |
| 为了探讨Trio-WES测序在产前超声异常胎儿诊断中的应用价值，本文收集2020年06月至2021年12月因产前超声异常的胎儿样本，行染色体核型分析和染色体拷贝数变异测序（CNV-seq），得到74例阴性样本，进行Trio-WES基因检测。结果显示：根据胎儿超声异常所累及的系统进行分组，总共可分为10组，其中多系统异常在每组中都有存在。Trio-WES基因检测发现7例基因突变的阳性结果，整体阳性率9.46%（7/74），共涉及8个与胎儿表型相关的致病/疑似致病变异。阳性诊断率最高的为颜面部异常28.57%(2/7)，而在中枢神经系统异常、腹腔积液和宫内生长受限等临床表型中未发现阳性诊断。68例成功随访，49例活产，19例引产。活产病例中，1例基于WES基因检测结果阳性患者得到及时诊治；引产病例中，6例因WES结果异常引产。因此，WES应用于染色体核型分析及CNV-seq阴性的产前超声异常胎儿，可提高产前遗传学诊断率，在产前诊断中可以指导妊娠决策及临床管理。 |
| 关键词: 产前超声 胎儿异常 全外显子测序技术 产前诊断 |
| DOI： |
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| 基金项目:湖南省临床医疗技术创新引导项目（2020SK50309）；湖南省临床医疗技术创新引导项目（2020SK50301）;湖南省科技创新平台与人才计划（2020SK4023）;湖南省创新平台与人才计划（2018SK4004）;郴州市重点研发及技术创新引导专项（ZDYF2020019） |
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| Trio-WES sequencing studies revealed genetic characteristics of prenatal ultrasound abnormalities in fetuses |
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penglingling1, zhanghaoqing2, liyangyan3, tanjufang2, huangdongqun2, licaiyun2, leidongzhu2
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1.The Chenzhou Affiliated Hospital,Deparmant of Gynaecology and Obstetrics, Hengyang Medical School,University of South China,Hengyang;2.The Affiliated Chenzhou Hospital, Hengyang Medical School, University of South China;3.The Chenzhou Affiliated Hospital,Deparmant of Gynaecology and Obstetrics, Hengyang Medical School,University of South China
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| Abstract: |
| To explore the application value of Trio-WES in the diagnosis of fetuses with prenatal ultrasound abnormalities, fetal samples due to prenatal ultrasound abnormalities from June 2020 to December 2021 were collected for chromosome karyotype analysis and chromosome copy number variation sequencing (CNV-seq) in this study, and 74 negative samples were obtained for Trio-WES genetic testing. The results showed that according to the systems involved in fetal ultrasound abnormalities, a total of 10 groups could be divided, and multi-system abnormalities were present in each group. Trio-WES genetic testing detected 7 positive gene mutations, with an overall positive rate of 9.46% (7/74), involving a total of 8 pathogenic/suspected pathogenic mutations related to fetal phenotypes. The highest positive diagnosis rate was 28.57%(2/7) in facial abnormalities, while no positive diagnosis was found in clinical phenotypes such as central nervous system abnormalities, ascites and intrauterine growth restriction. Sixty-eight cases were successfully followed up, 49 cases were live births and 19 cases were induced labor. Among the live birth cases, one patient with positive results of WES was diagnosed and treated in time. Among the cases of induced labor, 6 cases were induced due to abnormal WES results. Therefore, the application of WES in prenatal ultrasound abnormal fetuses with negative karyotype analysis and CNV-seq can improve the rate of prenatal genetic diagnosis, and guide pregnancy decision-making and clinical management in prenatal diagnosis. |
| Key words: Prenatal ultrasound Fetal abnormality Whole exome sequencing Prenatal diagnosis |
