ABSTRACT

Genetic counseling is often inextricably linked in the minds of health professionals with reproduction. Whilst it is hoped that this book will help to illustrate that genetic issues are of relevance to people in all stages of life, it is clear that many families with concerns about a genetic condition will seek information during pregnancy and in the weeks after birth. Of course, a significant number of families will become aware of their genetic risk for the first time during that period, as a result of prenatal testing, ultrasound scanning or congenital abnormalities diagnosed in a newborn. In this chapter, we describe common situations in which genetic conditions may become apparent, the types of tests available and some guidelines for good practice.