A woman is pregnant and over age 34. Chances of having a child with Down syndrome increase dramatically when a pregnant woman is older. A child has medical problems that might be genetic. When a child has medical problems involving more than one body system, genetic testing may be recommended to identify the cause and make a diagnosis. A child has medical problems that are recognized as a specific genetic syndrome.
Genetic testing is performed to confirm the diagnosis.
In some cases it also may aid in identifying the specific type or severity of a genetic illness, which can help identify the most appropriate treatment. Although advances in genetic testing have created a revolution in the way that doctors diagnose and treat certain illnesses, there are still some limits that parents need to recognize. First, although genetic tests can identify a particular problem gene, they cannot always predict how severely that gene will affect the person who carries it. In cystic fibrosis, for example, finding a problem gene on chromosome number 7 cannot necessarily predict whether a child will have serious lung problems or only mild respiratory symptoms. Knowing that you carry high-risk genes may actually be an advantage, if it gives you the chance to modify your lifestyle to avoid becoming sick.