By  Emily Hardisty, MS, CGC

I’m referring a patient for ultrasound and genetic counseling because she will be over 35 at delivery. She asked me what to expect from genetic counseling. While I know what genetic counseling is, I’m not sure how to explain it to her.



A formal definition of genetic counseling is a good starting point.  According to the National Society of Genetic Counselors:

“Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the interpretation of family and medical histories to assess the chance of disease occurrence or recurrence, education about inheritance, testing, management, prevention, resources and research, and counseling to promote informed choices and adaptation to the risk or condition”
(NSGC, 2005).
So, genetic counseling is a process that includes information gathering, emotional support, and education.  At our center, genetic counseling is provided by specially trained genetic counselors. All of the genetic counselors at the UNC Prenatal Diagnosis Center have a Master of Science in Genetic Counseling or a related field and are either board certified genetic counselors (CGC) or board eligible (BE) genetic counselors. These genetic counselors work closely with the maternal fetal medicine physicians and sonographers to help provide patients with comprehensive and clear information about their pregnancy.

When coming to our center for genetic counseling, patients can expect the following:
  1. A review of their family and medical history. This information is used to determine if the family is at increased risk for any birth defects or genetic conditions. If warranted, additional testing may be discussed based on this family history.
  2. An assessment of their risk in the current pregnancy.  All pregnancies have some risk for birth defects. These risks may be increased as a result of increased maternal age, abnormal screening results, or abnormal ultrasound findings.
  3. A discussion of testing options available in the current pregnancy. These testing options may include screening tests (such as first trimester screening or second trimester maternal serum screens), ultrasound, CVS, amniocentesis, or additional genetic tests.
  4. A discussion of how the patient’s beliefs, values, and desires for the pregnancy may impact their decisions and attitudes regarding the risks in the pregnancy and their testing options.
Patient’s often come to us with misconceptions about genetic counseling based on word-of-mouth or internet research.  We find that patient’s who are informed by their physician or nurse that they are being referred for genetic counseling and who are provided with some information about what to expect from genetic counseling are often the most receptive to and benefit the most from the genetic counseling process.

For  more information about the UNC Prenatal Diagnosis Center, visit us on the web at www.mombaby.org or www.UNCmfm.org

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