Family members may share many common things, including their living space, their culture, and sometimes even their behaviors. The shared factor that has the most impact on the health of you and your child is genetics.
When speaking with your physician at your preconception visit or at your initial prenatal exam, you will be asked questions about yours and your partner’s family medical history. Why is this information important to you and your doctor when planning for the healthy management of your pregnancy?
Family History of Genetic Conditions
Individuals who have close family members with a genetic disorder may be at an increased risk of inheriting the condition. For this reason, the kind of medical information your doctor is interested in when discussing pregnancy includes any history of known pregnancy complications, genetic conditions, or birth defects. Your doctor will also be interested in any other unexplained symptoms, conditions, or complications that have been noticed in family members, which may include chromosomal disorders.
Ethnic Background and Genetic Conditions
Ethnic background has been shown to increase the probability of inheriting specific recessive genetic conditions. The American Congress of Obstetricians and Gynecologists suggests these screening guidelines for individuals of the following ethnic backgrounds:
● Non-Hispanic white individuals – cystic fibrosis
● Individuals of Eastern European Jewish descent (Ashkenazi Jews) – Tay–Sachs disease, Canavan disease, familial dysautonomia, and cystic fibrosis.
● Individuals of African, Mediterranean, and Southeast Asian heritage – thalassemias and sickle cell disease.
How To Prepare Your Family Medical History
Before speaking with your doctor, it’s a good idea to have your family medical history organized. This will help your physician when analyzing your testing options. Speaking with your family members is the best way to learn what diseases or conditions they have had or that they know other family members have had. If your family members do not feel comfortable speaking about their medical history, or that of another family member, offer to create a questionnaire that they can fill out. This may reduce some of the anxiety that comes along with trying to remember details in the moment when asked during a conversation.
Testing Options For Parents Who Are Suspected Carriers
Before conducting any test, it’s always best to speak with your doctor or with a genetic counselor. These healthcare professionals will analyze your family medical history, your personal medical history, as well as your ethnic background in order to determine which screening tests are best for you.
Preconception genetic testing may be used to determine if you or your partner are carriers for a specific genetic disorder. Typically, the partner who is most at risk of being a carrier will be tested first. If this partner tests positive, then the other partner will be asked to participate in the testing process as well.
Planning Your Pregnancy After Preconception Genetic Testing
If you and your partner are both discovered to be carriers of a genetic disease, this does not mean that your child will definitely inherit the condition. In this case, the risk that your child has of inheriting the condition is 25 percent.
Test results should always be discussed with your doctor or with your genetic counselor in order to fully understand the results as well as to help you further plan your pregnancy.