Preconception Planning

Planning Your Pregnancy

As you begin your path to parenthood, there are several key things that you should consider for the healthiest pregnancy possible. Diet, exercise, regular doctor visits, and prenatal vitamins are some of the basic steps. Still, you may also want to consider undergoing screening for carrier status for specific genetic diseases prior to conceiving.

Why Should You Consider Preconception Genetic Disease Carrier Screening?

Every person is expected to be a silent carrier of multiple recessive genetic diseases. When both biological parents silently carry the same disease, a pregnancy would be at a 25% risk of being affected with that disorder. Expanded genetic carrier screening is a test obtained by a routine blood draw or saliva collection kit to determine which disease(s) a person carries from a panel of selected disorders.

When expanded carrier screening is performed, test results help determine to what extent the patient is at risk for their child to be affected with a specific disease. Results often reduce reproductive risks and provide additional reassurance for hopeful parents.

However, when results identify increased risks, patients have the opportunity to learn about the potential disease(s) and consider their reproductive planning or testing options to have a healthy child. This type of testing is most effective if performed before pregnancy.

Who Should Consider Genetic Disease Carrier Screening?

Previously, testing was offered based only on a person’s ethnicity or family medical history. This information is considered prior to performing testing; however, there need not be any affected family member, nor does the patient need to be of a specific ethnicity or background to consider carrier screening for themselves and/or their partner. Every person is expected to be a silent carrier of multiple genetic diseases regardless of their background or family history. And many common genetic diseases have been found to be pan-ethnic or identified in individuals of multiple backgrounds.

What Role Does Family History Play?

During a preconception genetic counseling appointment at Genetics & IVF Institute, a detailed genetic family history is obtained on three generations of your family. A genetics specialist will review the pregnancy and family medical history and may recommend additional genetic testing or evaluations prior to conceiving. Sometimes reviews of additional family records are recommended.

A preconception genetic counseling appointment offers you the opportunity to discuss potential reproductive risks in advance of a pregnancy. Whether to pursue genetic testing in the preconception timeframe or during pregnancy is a personal decision. Meeting with a certified genetic counselor or reproductive geneticist prior to pregnancy provides you with a reproductive genetic risk assessment and helps you make informed decisions about possible testing options in a supportive environment.

Contact us online or call (800) 552-4363 to request a preconception genetic counseling appointment with a member of our genetics team. If you or a family member has undergone genetic testing or if a prior pregnancy was abnormal, we may request your medical records for review ahead of your appointment.