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Q: What is genetic counseling and how do you know if you need it?

A: Genetic counseling is a service to help individuals and families translate scientific knowledge into practical information. A genetic counselor works with a person or family that may be at risk for an inherited disease or abnormal pregnancy outcome.

Three to five percent of all babies are born with a birth defect – some major and some minor.  Some of these birth defects are genetic (inherited) and others are caused by environmental factors or a combination of genetic and environmental factors.  A genetic counselor with specialized training in medical genetics and inherited disorders can help you learn about your risk for having a child with genetic disorders or birth defects.  This information will help you, your doctors and your family make informed decisions about your pregnancy, prenatal testing options and your pregnancy care.

Providers of genetic counseling include:

  • Individuals who have followed a specific educational curriculum and who are certified genetic counselors (CGCs)
  • Physicians (Maternal-Fetal Medicine specialists or Medical Geneticist) with special training in the subject

You may meet with a genetic counselor if you have questions about your risk of having a child with a birth defect or a genetic condition. 

Genetic counseling is appropriate if:

  • You are pregnant and will be age 35 or older at the time of delivery
  • Your unborn child is found to have a structural abnormality during an ultrasound
  • Your blood screening test(s) indicated increased risk of fetal abnormality
  • You have a family member with a birth defect, chromosome abnormality or genetic condition
  • You have an ethnic origin known to be at higher risk for a certain genetic disorder such as Ashkenazi Jewish or French Canadian descendents
  • You are a blood relative of your partner
  • You have had three or more miscarriages
  • You have had a unexplained stillbirth or death of a child

When you meet with a genetic counselor, he or she will:

  • Review your medical and family history
  • Identify potential risks to the present or future pregnancy and how they can be managed
  • Provide information on what prenatal testing options are available during your pregnancy
  • Refer you to educational resources and literature to enhance your knowledge about your concerns
  • Provide an overview of your future prenatal care
  • Provide a realistic understanding of your current health status
  • Provide information on how to manage health problems which should be resolved before pregnancy

A family can seek genetic counseling directly or be referred by a physician.  If you are concerned and would like to seek a genetic counselor, talk to your physician or call Riverside Maternal Fetal Medicine at (614) 566-4378.