3
Screening Methods for Genetic Defects and Diseases in Neonates and Children
CHAPTER OBJECTIVES
Congenital Abnormalities (Birth Defects) and Dysmorphology
Clinical Dysmorphology—Classification of Foetal and Birth Defects
Diagnostic Approach to the Dysmorphic Foetus
Improvements in our understanding of human heredity and the identification of numerous disease-causing genes have led to the progress of many tests for genetic conditions. The ultimate goal of genetic testing is to recognize the potential for a genetic condition at an early stage. In some cases, genetic testing allows early intervention that may lessen ...
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