Prenatal Genetic Testing and Counseling

We’ll help you understand your risk of having a child with a genetic condition and discuss testing options that align with your values.

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For Obstetrics and Gynecology (OBGYN) related requests:

1-319-356-2294

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For all other requests:: 1-800-777-8442

When you’re pregnant or considering pregnancy, it’s natural to think about (and worry about) your baby’s health. This may be especially true if certain genetic conditions—such as cystic fibrosis—or birth defects run in your family.

If you have questions about your baby’s chance of developing a genetic condition, University of Iowa Health Care has answers. And if you want to know whether your baby has a condition, we can help with that, too.

We offer a range of prenatal genetic tests, and we’re home to Iowa’s most experienced team of genetic counselors. We’re here to provide information and support that aligns with your personal goals.

How prenatal genetic counseling and testing works

Our licensed genetic counselors have a deep understanding of genetics, and how genes influence one's health and development. They’re also trained to help you make sense of this complex topic. We’ll make sure you feel well-informed before you decide whether prenatal genetic testing is right for you.

About genetic conditions

We all have thousands of genes that control our height, hair color, eye color, and much more.

Genes also control whether we’ll be born with certain medical conditions, like Down syndrome. That’s because genetic conditions are caused by a difference within your genes. These differences include missing genes, extra genes, or genes that don’t work correctly.

Just as you and your partner inherited genes from your parents, you’ll each pass genes to your own children. So, determining your child’s risk of genetic conditions can start with understanding your personal and family genetics.

This is just one of the areas our genetic counselors specialize in.

How our genetic counselors can help you

Whether you want an expert to review your family’s genetic history, or you’re interested in diagnostic tests, we can help. Our genetic counselors can:

Assess your baby’s risk for genetic problems, based on factors like your age and family history
Discuss genetic testing options, including the benefits and risks of each
Coordinate appropriate prenatal genetic testing
Explain your test results
Offer you emotional support and connect you with support groups, community organizations, and other resources. We can also connect you with a therapist from UI Health Care’s Women’s Wellness and Counseling Center if you’re interested in long-term support.
Connect you with any pediatric or perinatal palliative care specialists who may need to care for your baby after birth

Who should seek advice from a genetic counselor?

You may want to consider prenatal genetic counseling if:

You’re pregnant and over age 35 (babies born to older patients have a higher risk of some conditions)
Your most recent ultrasound shows a potential difference with your baby’s growth or development
You received an abnormal genetic screening result for your baby
You or a first-degree relative (such as a parent or sibling) have been diagnosed with a genetic condition
You or a first-degree relative are a “genetic carrier.” This means you have a genetic difference, but don’t have any associated medical conditions. Even if you’re healthy, you can pass this genetic difference to your child.
You and your partner have a common ancestor (for example, you’re first cousins).
You’re interested in discussing your family history and genetic testing options prior to becoming pregnant

Genetic conditions we can test for

We offer several tests that look for genetic differences. Depending on the type of test used, we can tell you whether your baby has—or is at risk for—certain conditions associated with these genetic differences.

The genetic conditions we can identify may include:

Cystic fibrosis
Down syndrome (trisomy 21)
Edwards syndrome (trisomy 18)
Fragile X syndrome
Klinefelter syndrome

Patau syndrome (trisomy 13)
Sickle cell anemia
Spinal muscular atrophy (SMA)
Tay-Sachs disease
Thalassemia

Triple X syndrome
Turner syndrome
And many more

In many cases, there is no family history of these genetic conditions. Some babies born with a genetic condition are the first in their family to have it.

Types of prenatal genetic tests

Prenatal genetic tests fall into two categories: screening tests and diagnostic tests.

Screening tests

Screening tests tell us whether your baby has a low or high probability of certain genetic conditions. These tests are often available along with other routine prenatal exams, so your regular pregnancy care provider will offer them.

Most screening tests are noninvasive, meaning they don’t pose any risks to you or your baby. They include:

Carrier screening: This test can be performed before or during pregnancy. We analyze blood samples from you and your partner to see if your children are at risk for certain genetic conditions. For example, if you’re both genetic carriers for the same condition, each child has a 25% chance of having that condition.
Maternal serum screening: This test requires a maternal blood sample and is often performed along with an ultrasound. It measures the levels of certain hormones and proteins that can be associated with genetic conditions. It’s typically used to screen for Down syndrome, trisomy 18, and neural tube defects like spina bifida.
Cell-free DNA screening (cfDNA): Also known as noninvasive prenatal testing (NIPT test), this test analyzes placental DNA, which circulates in your blood during pregnancy. It screens for Down syndrome, trisomy 13, trisomy 18, and conditions that affect the X and Y chromosomes (sex chromosomes). These include conditions such as Turner syndrome and Klinefelter syndrome.

If your screening test is negative, it means your baby’s risk of developing certain genetic conditions is low (typically less than 1% or 1 in 100).

If your screening test is positive (shows a potential genetic difference), your provider may refer you to a genetic counselor. We’ll provide support, explain what your test results mean, and discuss your interest in diagnostic testing.

Diagnostic tests

We also offer diagnostic tests that can confirm whether your baby has a genetic condition.

These tests are more invasive, meaning there is a small chance of risks such as miscarriage. But they also provide conclusive information that can help you make important decisions sooner rather than later.

Our diagnostic tests include:

Chorionic villus sampling (CVS): This test is usually performed between 10 and 13 weeks of gestation. During the procedure, we take a tiny tissue sample from the placenta (which often has the same genes as your baby). Chorionic villus sampling can accurately diagnose a wide range of genetic conditions.
Amniocentesis: This test is usually performed after the 16th week of pregnancy. During the procedure, we collect a small amount of the amniotic fluid that surrounds your baby. As with CVS, amniocentesis can accurately diagnose a wide range of genetic conditions.

What to expect

If you decide to have prenatal genetic counseling, you’re not obligated to also have genetic testing. Our goal is to hear what is important for you to know about your baby, and help you make decisions that align with your personal values and beliefs.

Preparing for your appointment

Your genetic counselor will ask questions about your personal and family medical history. The following steps will help you prepare for your appointment:

Talk to your relatives to see if they’re aware of medical conditions that run in your family.
Find out if any family members have had three or more pregnancy losses or any children who passed away shortly before or after birth.
Ask any family members who have had genetic testing if you can have a copy of their results.
Make sure you have a copy of your own prenatal screening test results, if applicable.
Write down any questions or concerns you want to discuss with your genetic counselor.

During your appointment

Your first genetic counseling appointment will take place in person and will likely last between 30 to 60 minutes. We encourage you to bring your partner or a support person with you.

During your visit, we’ll discuss the following items:

Medical history: We’ll review any known health concerns, birth defects and/or genetic conditions that run in your family, going back as many generations as possible (most often three generations). If you’ve had any previous pregnancies, we’ll also review your pregnancy history.
Risk factors: We’ll help you understand your child’s probability of developing a birth defect or genetic condition, based on your medical history and other factors.
Previous test results: If you’ve had an ultrasound or genetic screening test with an abnormal finding, we’ll talk about what the finding means. We’ll also help you understand what steps you can take next (such as scheduling additional tests).
Testing options: If you’re considering genetic testing, we’ll explain the options available to you. We’ll go over the benefits, risks, and limitations of each test.
Expectations: We’ll help you understand what information each type of genetic test can provide (and what it can’t provide). And we’ll review your options based on your test results and develop a plan that aligns with personal beliefs and values.
Support: Individuals and families sometimes receive unexpected news about their baby's health, and we’re here to provide ongoing support. We often walk alongside families through their prenatal care at UI Health Care and help them process this unexpected information. We also offer appropriate resources for each family's particular situation.

After your appointment

If you choose to move forward with prenatal genetic testing, it may occur the same day as your appointment or during a separate appointment.

We’ll let you know if you need to prepare for the test and how long it will take. We’ll also let you know how long you should expect to wait for your test results.

When we have your results, we’ll schedule a time to review them with you. We can do this in person or over the phone.

Genetic testing during the in vitro fertilization process

If you’re trying to get pregnant through in vitro fertilization (IVF), you also have access to our genetic counselors.

For example, you can undergo carrier screening to better understand the chance of passing certain genetic conditions to your children. And we can test your embryos for certain genetic differences before placing one in your uterus (preimplantation genetic testing).

UI Health Care is among a handful of centers in the nation that offers this service within its IVF program.

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Interested in prenatal genetic counseling or testing

If you’d like to meet with a prenatal genetic counselor, give us a call. We’ll help you learn more about your baby’s genetic risks and your genetic testing options.

Call 1-319-356-8892 Request an appointment