Pregnant woman
At Every Turn > Specialty Care > How genetic testing can help moms-to-be
Tips Jun 04, 2018

How genetic testing can help moms-to-be

Donald Basel, MD, Medical Director

It’s been 15 years since scientists announced they had identified and mapped all the genes of the human genome. That groundbreaking work has made an incredible impact on prenatal care and pregnancy planning, as moms-to-be can now get more information than ever before about their babies before they are born — and even before they become pregnant.

Genetic testing today

It used to be that testing for genetic abnormalities meant having an invasive procedure like amniocentesis or chorionic villus sampling (CVS) — both of which carry a small risk of losing the pregnancy. Because of this potential danger, they were only offered to moms with a clear risk of a genetic disorder.

Now, expectant moms are routinely screened through non-invasive prenatal testing (NIPT), a simple blood test that can be performed as early as nine weeks gestation. This test screens for common fetal aneuploidy — an abnormal number of chromosomes in cells — which can cause conditions such as trisomy 18, 13 and Down syndrome.

The NIPT itself does not confirm or exclude a diagnosis, however. There can be false positives or false negatives, but in general the test has a high enough sensitivity to make it a good screening tool. Moms who screen positive for fetal aneuploidy are often referred to a specialist to confirm diagnosis and receive appropriate counseling.

Diagnostic testing

The Fetal Concerns Center at Children’s Wisconsin is a multidisciplinary center, with various specialists skilled in caring for pregnant mothers who are facing a potential fetal diagnosis or concern.

Women are usually referred to the Fetal Concerns Center based on either an abnormal NIPT screening or an abnormal ultrasound. The Fetal Concerns Center manages all aspects of a mom’s prenatal care, including coordinating diagnostic testing and genetic counseling through the Genetics Program at Children’s Wisconsin.

Diagnostic testing is used to identify specific genetic conditions. It can identify potentially treatable diseases prenatally and confirm a suspected diagnosis. Knowing about fetal conditions before birth allows for immediate treatment after birth, and sometimes even in utero.

Another kind of non-invasive testing is called carrier testing, which tells parents whether they carry a gene for certain genetic disorders. Parents may have carrier testing for a variety of reasons:

  • Family history of a specific disorder
  • Screening for disease that is more common in certain ethnic groups or races
  • Parents want to screen for a variety of genetic disorders, regardless of family history, race or ethnicity

Genetic counseling

In addition to state-of-the-art testing and research, The Fetal Concerns Center has genetic counselors who are experts in helping families understand their diagnosis, as well as possible outcomes and choices.

We know every family is different, and we work with parents to help them understand potential outcomes and how different courses of treatment may affect those outcomes.

All prenatal genetic testing is designed to help parents — and their doctors — make informed decisions about a pregnancy. It also helps the team know how to plan for a birth and what to expect.

If you have questions about genetic testing, talk with your OB/GYN or contact the Fetal Concerns Center at Children’s Wisconsin at (414) 337-4776.

Children's Wisconsin specialty care providers have advanced training and expertise in many areas of pediatric medical care, including allergies, dental, dermatology, ENT, gastroenterology, neonatology, surgery and more. 
View more articles from Donald Basel, MD

Related stories

Common causes and treatments of burns in kids Children's Wisconsin
Tips Jul 03, 2025

The Most Common Causes of Burns in Kids

A burn can happen in a blink of an eye. And, unfortunately, they’re all too common in kids.

Fireworks safety Children's Wisconsin
Tips Jul 03, 2025

Fireworks and Kids: How To Stay Safe This Summer

Libbe Slavin Program Manager

There is no safe way to enjoy fireworks at home.

Benefits of kids helping in the kitchen Children's Wisconsin
Tips Jun 30, 2025

Little Chefs: The Benefits of Getting Kids Involved in the Kitchen

Lynelle Fischer, APNP Family Nurse Practitioner

Along with modeling health and nutrition, cooking together can teach your child important skills that'll last a lifetime.

Helping tweens and teens overcome breakups Children's Wisconsin
Tips Jun 16, 2025

Heartbreak 101: Helping Your Teen Heal After a Breakup

Artie Turner, MS, LPC Behavioral Health Consultant

While it’s painful, there are ways to help your teen navigate through the intense emotions of heartbreak.

How to keep kids hydrated in the summer Children's Wisconsin
Tips Jun 10, 2025

You Can Lead a Kid to Water, but How Do You Get Them To Drink?

Lara Seeby-Halas, MS, LAT Licensed Athletic Trainer

It can be tricky to know how much water kids need — and even trickier to get them to drink it.

Benefits of gardening with your kids Children's Wisconsin
Tips May 28, 2025

Growing Up Green: The Many Benefits of Gardening With Your Kids

Caitlin Jacobs, MPH, RD, CD Clinical Dietitian

Gardening gets your kids outside, exposes them to a variety of foods and promotes their natural curiosity.

Understanding and addressing anxiety in kids Children's Wisconsin
Tips May 20, 2025

No More Worries: How To Manage Anxiety in Children

Tyler White, LPC Behavioral Health Consultant

While anxiety is a natural part of being human, it can be quite unpleasant to live with.