Advice and support given to people if they or their children might be affected by inherited genetic disorders.
The procedure whereby advice is given about the risks of family members having or an individual giving birth to a baby with a genetic disorder and the options that are open to those at risk. The first action is usually to find out any diagnoses in the family, as this is essential before giving any detailed advice. Risks can be calculated from simple Mendelian inheritance in many genetic disorders. However, in many disorders with a genetic element, such as cleft lip or palate, the risk of recurrence is obtained from population studies. Risks include not only the likelihood of having a child who is congenitally affected by a disorder, but also, for adults, that of being vulnerable to an adult-onset disease.
Medical advice provided to individuals known to be at risk of conceiving a child with a genetic disorder like cystic fibrosis, or who themselves are at heightened risk of acquiring a genetic disorder. The counselor reviews personal and family medical histories and, in certain scenarios, may coordinate tests including chromosome analysis and genetic probes.
Genetic counseling empowers individuals to make knowledgeable choices about their future, especially regarding becoming parents. If there’s a substantial risk of a couple bearing a child with a disorder, medical practitioners may propose pre-implantation genetic testing in conjunction with in vitro fertilization, or prenatal diagnosis, to maximize the odds of having a healthy child. If parents already have a child affected by a disorder, genetic counseling provides insights into the child’s potential prognosis.