Genetic Health Care Before Conception

Every child inherits two copies of their genes, one from each of their biological parents, and in this way genes are passed on to the next generation. Often people do not think about their genes, until they have a child born with a recessive condition. When they then ask the question: ‘Could we have known before that we are carrier of this disorder?’, the theoretical answer is ‘Yes’, since they would have been carriers throughout their lives. However, testing for carrier status often is done only after the birth of an affected infant, potentially followed by testing relatives. Medical issues related to genetic factors being passed on are preferably discussed before pregnancy, since the impact of inherited disorders to the lives of parents and their family may be enormous. For some couples, the risk for each child to have an inherited disease is 25%, 50% or, though rarely, even 100%. It is therefore important that time is available for providing information about a possible genetic risk to couples planning a pregnancy. This chapter will discuss (1) genetic health care in relation to preconception care (goal, autonomy, informed decision-making); (2) family history and patterns of inheritance, especially recessive conditions; and (3) techniques that are used in the genetic laboratories in 2019 (more or less targeted, from simple high-performance liquid chromatography (HPLC)/electrophoresis for HbP to expanded carrier screening using sequencing techniques or analyses as in whole exome sequencing (WES) for consanguineous couples).