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

How kids can safely use artificial intelligence Children's Wisconsin
Tips Aug 20, 2025

Rise of the Machines: What Parents Should Know About AI and Kids

Kate Bennett, DSW, LCSW Behavioral Health Consultant

What parents can do to help their kids use AI in safe and healthy ways.

How to identify and treat head lice in children Children's Wisconsin
Tips Aug 15, 2025

How To Identify and Treat Head Lice in Children

Sarah Mooney, MD Pediatrician

Lice are annoying, but they are harmless and do not spread disease.

Top 5 things parents should know about hand, foot and mouth disease Children's Wisconsin
Tips Aug 11, 2025

What Parents Should Know About Hand, Foot and Mouth Disease

Cheryl Cameron, MD Pediatrician

Hand, foot and mouth disease is a mild but highly contagious viral infection that is common in young children.

Measles outbreak United States 2025 Children's Wisconsin
Tips Aug 08, 2025

Measles Outbreak Shows Importance of Getting Your Kids Vaccinated

Frank Zhu, MD Medical Director

The recent measles outbreak is a regrettable reminder to all of us of just how preventable this disease truly is when your child is vaccinated.

How to get kids to talk about the feelings Children's Wisconsin mental and behavioral health
Tips Aug 07, 2025

How To Help Your Young Child Talk About Their Feelings

Janelle Clark, LPC Behavioral Health Consultant

Children who find healthy ways to express their feelings are more likely to develop positive relationships with others, feel more confident and perform better in school.

Common newborn skin ailments Children's Wisconsin
Tips Jul 18, 2025

Baby Blemishes: Seven Common Skin Conditions in Newborns

Stephen Humphrey, MD Pediatric Dermatologist

Seven common skin conditions that affect newborns, how to treat them and when to see a doctor.

Building the Confidence Muscle: How To Help Kids Learn To Stand Up for Themselves Children's Wisconsin
Tips Jul 17, 2025

Building the Confidence Muscle: How To Help Kids Learn To Stand Up for Themselves

Jamie Radant, LPC-IT Behavioral Health Consultant

Teaching kids how to stand up for themselves is a valuable skill that will serve them well throughout life.