What to Know About Prenatal Genetic Counseling

By Kristen Young and Vera Shively, Lurie Children's Division of Genetics, Genomics and Metabolism

The Chicago Institute for Fetal Health at Lurie Children's offers comprehensive evaluation, counseling and care before birth (prenatal) for a variety of fetal complications including twin-twin transfusion syndrome (TTTS), twin reversed arterial perfusion (TRAP) and fetal structural anomalies. The multidisciplinary care team typically includes a prenatal genetic counselor. Genetic counselors have specialized training in genetics and counseling. They help patients to understand their genetic risks and navigate genetic testing options and results.

Genetics & Fetal Conditions

Many isolated birth anomalies, such as heart conditions and spina bifida, can be caused by a combination of genetic and environmental factors. Current genetic testing options cannot always identify a genetic cause for many fetal conditions. Research is ongoing and genetic counselors keep up to date with new information.

In some cases, a complication found via a fetal ultrasound may suggest there is a higher chance for the baby to have a genetic condition. The specific genetic condition depends on what is seen on the ultrasound. There are thousands of different genetic disorders that vary in severity and health concerns. Examples of genetic disorders associated with certain findings on fetal ultrasound include:

  • Down syndrome
  • Trisomy 18
  • Noonan syndrome
  • Cystic fibrosis
  • Achondroplasia 

Why Meet With a Prenatal Genetic Counselor?

At the Chicago Institute for Fetal Health, the genetic counselor’s role includes:

  • Providing education on how genetic conditions and birth defects may affect health and development and how the condition may be inherited in families
  • Helping families understand genetic test results
  • Assessing the risk of having a genetic disorder
  • Discussing the benefits and limitations of genetic testing to help families with decision making for genetic testing
  • Providing support and advocacy for families on their medical journey

A genetic counselor will spend time helping parents decide if genetic testing is right for them. There are many different genetic tests available during pregnancy. Many women are offered genetic testing early in pregnancy for common conditions including Down syndrome. When ultrasound identifies a fetal condition, parents may choose to pursue more specialized genetic testing. A genetic counselor helps the parents and care team determine the most appropriate genetic tests.

The patient’s goals and values are central to making complex decisions. Learning about a genetic disorder can help families understand and prepare for health concerns their child may face. For some families, it may be best to wait until after a baby is born before considering genetic testing. Learning genetic information during pregnancy may cause stress. As we are still learning about the role of genetics in health complications, genetic testing can sometimes identify a genetic change with uncertain clinical implications.

Providing Multidisciplinary Care After a Genetic Diagnosis

Our Fetal Health team is unique in its ability to provide prenatal multidisciplinary care for many genetic conditions. When a prenatal diagnosis is made, families meet with experts from one of our many pediatric specialty clinics. Our families benefit from counseling from the providers that have everyday experience caring for children with rare conditions.

Learning about a genetic condition can provide insight on health concerns that a child may face after delivery. Through conversations with many different specialists, parents and providers can create a plan of care together.

A Prenatal Genetic Counselor Is Here to Help You

The increase of genetic testing options gives families a way to obtain personalized information during their pregnancy. A genetic counselor helps patients to understand their testing options and make the right decisions for them and their families.

Additional Resources 

Learn More About The Chicago Institute for Fetal Health 


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