REVIEW ARTICLE: PDF OnlyMolecular diagnostics for congenital heart disease current technologies and applicationsZu, Bailing; Zheng, Zhaojing; Fu, Qihua*Author Information Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China Corresponding author: Qihua Fu, Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, 1678 Dongfang Road, Shanghai 200127, China. E-mail: email@example.com. Received March 10, 2020 Accepted April 25, 2020 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0 Journal of Bio-X Research: July 20, 2020 - Volume Latest Articles - Issue - doi: 10.1097/JBR.0000000000000068 Open PAP Metrics Abstract Congenital heart disease (CHD) is the most common birth defect worldwide. In recent years, the widespread application of innovative molecular diagnostic technologies in clinical scenarios has obviously increased the molecular diagnostic yields of CHD, providing evidence-based guidance for medical decision-making. These molecular diagnostic technologies include chromosome microarray analysis, targeted sequencing, exome sequencing, and genome sequencing. Furthermore, high-throughput sequencing technology has performed excellently in the clinical molecular diagnosis of CHD. This review provides an overview of the current technology and applications in the molecular diagnosis of CHD. The unmet issues and future directions in adapting novel genomic testing technologies to the molecular diagnosis of CHD in clinical settings are also addressed. Copyright © 2020 The Chinese Medical Association. Published by Wolters Kluwer Health, Inc.