Thousands of disorders and conditions can be transmitted genetically, and expectant individuals or couples often want to know their baby’s risk for inheriting one of them. Riley at IU Health offers personalized risk assessment through prenatal genetic counseling and screening. Evaluations are most accurate between 10 and 22 weeks of pregnancy.
For families with no known risk factors, genetic counseling may simply ease their mind as they prepare for the arrival of their baby. Prenatal genetic counseling can be especially beneficial to couples with a known family history of inherited conditions, chromosomal disorders or birth defects, or those who have any of the following risk factors:
Prenatal genetic counselors at Riley at IU Health have graduate level training in genetics, biology, statistics and psychology. Because of their unique education and experience, genetic counselors can provide a wealth of information to families that face having a baby with a birth defect or genetic disorder, or those at risk of a disorder. Genetic counselors are particularly skilled at simplifying and explaining complex genetic information.
If your family history includes inherited disorders, or there is a risk of a genetic disorder, our genetic counselors can explain how genes are transmitted from parent to child, answer your “What if?” questions and advise you about the nature, course and consequences of the disorder. They can also calculate the risk of such a condition being passed to your developing child.
While genetic counselors do not diagnose or treat medical conditions, they are well-versed in discussing testing options and interpreting the results of genetic tests. Prenatal genetic counselors can advise couples of any potential risks to the mother or fetus as a result of genetic testing.
They can also explain the advantages and limitations of testing, and how test results can enhance pregnancy management or family planning. Couples are free to weigh the risks against the benefits of testing and arrive at their own decision.
Genetic counselors do not attempt to sway couples toward any particular outcome or course of action. Their goal is simply to increase your understanding and equip you to make healthcare decisions that are right for you and your family.
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.
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:
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.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
This is an exhaustive, consumer-friendly resource about genetic conditions, published by the U.S. National Library of Medicine.
This website is supported by the American Academy of Pediatrics and offers information about prenatal genetic counseling and screening.