Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing

Keyphrases

• Exome Sequencing 100%
• Congenital Heart Defects 100%
• Heart Defects 100%
• Prenatal Testing 100%
• Incidental 60%
• Diagnostic Performance 40%
• Genetic Diagnosis 40%
• Next-generation Sequencing 20%
• Pathogenic Variants 20%
• Genetic Aberrations 20%
• Variants of Uncertain Significance 20%
• Genetic Counseling 20%
• Clinical Utility 20%
• Cohort Size 20%
• Termination of Pregnancy 20%
• Birth Defects 20%
• Prenatal Exome Sequencing 20%
• Extracardiac Findings 20%
• Novel Disease Genes 20%
• Parent-child Trios 20%

Biochemistry, Genetics and Molecular Biology

• Exome Sequencing 100%
• Genetics 60%
• Next Generation Sequencing 20%
• Genetic Counseling 20%
• Decision Making 20%