Factors Affecting the Genetic Diagnostic Rate in Congenital Heart Disease

作     者：Jun Sung Park Go Hun Seo Yunha Choi Soojin Hwang Minji Kang Hyo-Sang Do Young-Hwue Kim Jeong Jin Yu Ellen Ai-Rhan Kim Euiseok Jung Byong Sop Lee Jae Suk Baek Beom Hee Lee 

作者机构：Department of PediatricsAsan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea 3 BillionInc.SeoulKorea Genome Research Center for Birth Defects and Genetic DiseasesAsan Institute for Life SciencesAsan Medical CenterSeoulKorea Division of CardiologyDepartment of PediatricsAsan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea Division of NeonatologyDepartment of PediatricsAsan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea Medical Genetics CenterAsan Medical Center Children’s HospitalUniversity of Ulsan College of MedicineSeoulKorea 

出 版 物：《Congenital Heart Disease》 (先天性心脏病（英文）)

年 卷 期：2022年第17卷第6期

页      面：653-673页

核心收录：

学科分类：1004[医学-公共卫生与预防医学(可授医学、理学学位)] 1002[医学-临床医学] 1010[医学-医学技术（可授医学、理学学位）] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 0703[理学-化学] 0702[理学-物理学] 1009[医学-特种医学] 10[医学] 

基　　金：This work was supported by an Institute for Information and CommunicationsTechnology Promotion (IITP) grant funded by the Korean Government (MSIT) (2018-0-00861 Intelligent SW Technology Development for Medical Data Analysis) 

主　　题：Heart defects congenital whole-exome sequencing genetic testing phenotype 

摘      要：Background: Over 400 genes contribute to the development of congenital heart disease (CHD). Additionally,multisystemic manifestations accompanying syndromic CHD pose a higher risk of genetic diseases. This studyinvestigated the diagnostic yield of whole-exome sequencing (WES) in patients with sporadic syndromic CHDand the phenotypic factors affecting the genetic diagnostic rate. Methods: Sixty-four patients with sporadic syndromicCHD aged 0.05), betweenthe groups with and without a diagnostic variant. However, patients with ≥3 extracardiac phenotypes had a significantlyhigher likelihood of having a diagnostic variant than those with ≤2 (38.3% vs. 5.9%, odds ratio = 9.93,95% confidence interval = 1.21–81.44, P = 0.013). Conclusions: The number of extracardiac phenotypes is importantin predicting the possibility of genetic diagnosis. Physicians will be able to select patients with a high probabilityof genetic diagnosis and provide appropriate genetic counseling based on the results of this study.