Prenatal Genetic Counseling

What to Expect

A prenatal genetic counselor will want to know the circumstances that prompted your visit. Is there a worrisome family history? Did screening identify or suggest an abnormality? Or, are you here as a precaution and merely seek reassurance? Some families are referred to us for genetic counseling when they receive an abnormal test result, suggesting that their baby may have a birth defect.

Regardless of the circumstances, our first step is to analyze your family’s medical history. A genetic counselor reviews your current pregnancy, as well as past pregnancies, including any prior children born with a birth defect or inherited disease.

The existence of any chronic health conditions like high blood pressure or diabetes will also be an important aspect of your medical history. The counselor may also seek information regarding medications, allergies, recent illnesses and hospitalizations. 

Depending on your reasons for seeking genetic counseling, your meeting may also include a discussion of testing options. Prenatal genetic tests are characterized in two ways: screening tests or diagnostic tests.

During your visit, we share options for prenatal genetic screening for chromosome abnormalities—also known as aneuploidy screening. These tests do not diagnose a chromosome abnormality in your baby, but they determine the chance of these conditions. Screening tests are used for early detection of possible genetic problems and are often a part of standard care recommended by obstetricians.

We also explain options for prenatal diagnostic tests, which are used to definitively diagnose or rule out a genetic abnormality in your baby. These tests are generally more invasive than genetic screening and are associated with a risk for miscarriage. Prenatal diagnostic tests are useful to healthcare providers because it allows them to plan complicated deliveries for babies that may require immediate care from specialists at birth or, in some cases, treat babies while they are still inside their mothers.

Both forms of testing are optional. You can decide which tests, if any, are right for your unique situation. If testing yields an abnormal finding, your genetic counselor may recommend counseling for the stress and emotional impact that can accompany these findings. We may suggest other sources of information and support in the wider community.

What to Bring

Although prenatal genetic counseling is not for everyone, some people consider it an extension of reproductive healthcare, or it may be sought at the suggestion of an obstetrician or family physician. Prior to your appointment, you should gather a comprehensive health history from both sides of your immediate and extended family. Among the questions you should ask:

• Who died early in life?
• Who had difficulty conceiving a child?
• Who miscarried a pregnancy?
• Who had mental or learning problems, birth defects, infertility or genetic disorders?

The more information you can gather, the greater understanding we can have of your risk. Having these answers ready gives us the information we need to make genetic counseling beneficial for you and your family.

You can also bring your completed registration forms at the time of your appointment. Your primary physician or obstetrician may also use our referral form to schedule your first appointment. These forms are available below.

Prenatal Diagnosis Patient Registration Form (Riley at IU Health). This form registers all new patients who receive prenatal diagnosis.

Genetic Counseling Patient Registration Form (Riley at IU Health). This form registers all new patients who receive genetic counseling.

Patient Referral Form (Riley at IU Health). Physicians can use this form to refer patients to us for maternal-fetal care or prenatal genetic counseling.