Pediatric Genetics Evaluations

When your child has a genetic condition, birth defect or a syndrome, you likely have many questions. A genetic consultation can help with medical management recommendation, what to expect for the future and finding answers.

A genetics evaluation involves a diagnostic evaluation provided by our staff of experts and includes:

  • Physical examination and treatment plan by a physician geneticist.
  • Diagnostic testing.
  • Review of medical and family histories.
  • Genetic counseling.

Who Can Benefit?

Children who may benefit from genetics consultations include those with:

  • Abnormal genetic testing results
  • Birth defects
  • Cystic fibrosis
  • Neurologic or neuromuscular disorders
  • Unexplained developmental delays
  • Intellectual disability
  • Autism spectrum disorders
  • Vision or hearing loss or abnormalities
  • Connective tissue disorders
  • Neurocutaneous disorders
  • Suspected genetic syndromes
  • Psychiatric or mental health condition

If you’re thinking about starting a family or you’re currently pregnant and you have questions regarding genetics and pregnancy, HSHS St. Vincent Hospital Medical Genetics also provides prenatal genetic services. 

Prenatal Genetics

When families have concerns about birth defects, hereditary conditions and the well-being of the baby, our genetic counselors are here for you. We have the expertise in prenatal genetics and can help you and your doctor answer questions and concerns during a very important time in your life. Our experts offer counseling and education to help you get the information and peace of mind you are looking for.

Prenatal genetic counseling helps individuals find answers to questions such as:

  • Is my baby at increased risk of having a birth defect or genetic conditions?
  • What concerns are there if I am 35 or older with my pregnancy?
  • Is genetic testing an option for me during my pregnancy or before pregnancy begins?
  • What options do I have for carrier testing?
  • How might my prenatal testing help influence my pregnancy and medical management?
  • What concerns are there about my use of medications during pregnancy?
  • My baby has a birth defect; what can I do to prepare for delivery and make special plans?

Prenatal Genetic Counseling Visit

Prenatal genetic counseling involves a visit to the HSHS St. Vincent Hospital Genetics Clinic, where you will spend time with a genetic counselor who has expertise with pregnancy, genetic conditions and birth defects.

  • An appointment is schedule for an office visit with a genetic counselor.
  • Your pregnancy history is reviewed.
  • Your family history is obtained and discussed.
  • Testing options for you and your pregnancy are discussed.
  • Follow-up includes discussion and interpretation of testing, when completed.

For more information about HSHS St. Vincent Hospital Medical Genetics, click here.