Diagnostic approach to children with birth defects.

ABSTRACT

Clinical genetics deals with the diagnosis, management and prevention of genetically determined disorders. Our current understanding of the role genes play in the pathogenesis of everything from fetal malformation to neurodegenerative and malignant disorders of late adulthood make it somewhat difficult to draw a clear boundary for this rapidly expanding specialty. With the recent completion of a preliminary draft of the entire sequence of the human genome it is not unreasonable to dream of novel therapeutic approaches such as "gene therapy", to cure disorders heretofore treatable with supportive measures only. Nevertheless, the clinical assessment of the patient will continue to be the cornerstone of good practice of medicine. In this article we review a clinical approach to the diagnostic challenge presented by children with birth defects. The principles we illustrate apply to other aspects of "genetic medicine" as well.