Frequently Asked Questions

What is a Genetic Counselor?

A Genetic Counselor (GC) is a health care professional with a master’s degree in human genetics and counseling. This training enables GCs to discuss technical genetic information in practical, useful terms. Carnegie Imaging for Women’s GC’s are employees of Genzyme Genetics Corporation and are all board certified by or active candidates for the American Board of Genetics. They are available for in-person consultation as needed.

What Happens During A Prenatal Genetic Counseling Session?

  • The GC evaluates your prenatal genetic questionnaire and your relevant medical history.
  • The GC constructs a 3-generation family tree including all medical problems that could be inherited.
  • The GC reviews any genetic testing you and your relatives have had, and may review other relevant medical records.
  • Applying standard genetic analysis to all the information you have provided, the GC then determines your risk for having a child affected with a birth defect or a genetic condition.
  • Both family specific and standard general population risks are included.
  • The GC explains the identified risk and discusses the testing options available, including their risk, benefits and limitations.
  • Written educational materials and / or information about community resources are available upon request.
  • You have the opportunity to ask questions about any genetic concerns you may have.
  • Based on your knowledge and your judgment, you decide whether to have any genetic testing.
  • The decision to consent to or to refuse any genetic procedure or testing is entirely yours.

Who Should Consider Prenatal Genetic Counseling?

  • Anyone who has questions about a disease or a condition that runs in the family.
  • Anyone with a family history of an inherited disorder, birth defect or mental retardation.
  • Anyone with abnormal results from a genetic screening or diagnostic test.
  • Anyone concerned that his or her job, lifestyle or medical history may pose a risk to pregnancy (including exposure to infection, medicines, alcohol, street drugs, chemicals, or other environmental agents).
  • A woman who will be 35 years old or older when her baby is born.
  • A woman who has had two or more unexplained miscarriages or early infant deaths.
  • Couples who are first cousins or other close blood relatives.
  • Couples with infertility thought to have a genetic cause.
  • Men with congenital bilateral absence of the vas deferens (CBAVD).

How Does A Genzyme Genetics’ GC Work With My Doctor(s)?

  • Either your primary doctor or specialist can refer you to the GC for genetic counseling.
  • The counseling services will be billed separately from any doctor visit. You will be responsible for any charges that your insurance does not cover.
  • After the genetic counseling session, the GC sends a summary report to your doctor(s).

Reprinted from: Genzyme Corporation