By Kristen Young and Vera Shively, Lurie Children's Division of Genetics, Birth Defects 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.
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:
At the Chicago Institute for Fetal Health, the genetic counselor’s role includes:
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.
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.
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.