A genetic condition is a health problem that happens because of change in a person’s genes. Genetic problems can affect adults only, but many are seen in children or even during a pregnancy. Sometimes these problems are passed through a family, and sometimes they happen by chance for the first time in a pregnancy.
During pregnancy, there are a few times the possibility of genetic conditions are discussed with a patient:
• There’s a family history of a genetic disease, such as muscular dystrophy or thalassemia.
• A pregnancy ultrasound shows signs of a genetic condition.
• Blood work during pregnancy shows an increased chance for a genetic condition.
• A mother is over age 35 at the time of delivery.
• Both parents are carriers of the same genetic disease.
In these situations, there is an increased chance the baby has a genetic problem. A patient will be offered to meet with a genetic counselor, who will review the family and pregnancy information in detail. From there, the patient is offered genetic testing for that condition if it is available. Reasons to look into genetic testing are reassurance, preparation and/or pregnancy management.