Genetic counseling and prenatal diagnosis

Abstract

The expanding knowledge in human genetics has led to practical applications at an increasing rate - especially in genetic counseling and genetic screening. Conventional and invasive diagnostic procedures have been complemented or entirely replaced by genetic-testing. DNA tests allow us to predict diseases and to modify risk figures. With increasing numbers of both diagnostic and predictive genetic tests available, genetic counseling is becoming more important in virtually all fields of clinical practice. The traditional areas of genetic counseling included pediatrics (assessment of children with developmental delay and dysmorphic features) and obstetrics (prenatal diagnosis). However, as the genetic basis of more and more diseases is unraveled, genetic counseling is now increasingly requested from other disciplines, including neurology, oncology, ophthalmology.