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Genetic Screening

For patients with a family history of breast or ovarian cancer, genetic screening for the BRCA mutation may be recommended. Your physician will be able to assess whether or not you are at a high risk and should undergo BRCA gene testing, which causes five to 10 percent of breast and ovarian cancers, as well as receive an annual mammogram and breast MRI.

If you are found to be a carrier, we utilize a multidisciplinary approach, bringing together both your OB-GYN and a genetic counselor to determine lifetime risk and a plan of action. Treatment includes:

  • Biannual breast exam by a physician
  • Increased surveillance
  • Mastectomy
  • Prophylactic bilateral salpingo-oophorectomy for patients over the age of 40 or those who are not planning to have more children. This procedure decreases the risk of developing breast cancer if pre-menopausal.

Because genetic screening allows for intervention even before the first signs of cancer, women who are high risk and who receive BRCA gene testing often have longer life expectancy.

Genetic Screening during Pregnancy

Genetic screening during pregnancy may be recommended to those who have a high risk of being a carrier for a hereditary condition or of having a child with Down’s syndrome. Along with peace of mind, genetic screening offers those who are high at risk the chance to prepare for any potential complications or conditions.

Risk is calculated based on:

  • Age
  • Ethnicity
  • Family History
  • Heritage

Before more invasive screenings, such as a chronic villus sampling (CVS) or amniocentesis are conducted by our Center for Medical Genetics, a quad screen, which is a test looking for four different markers in the mother’s blood, can first be performed. A MaterniT 21 test, also using a sample of the mother’s blood, is another option to determine risk as well as gender. If the mother is found to be high risk, the physician may then recommended further testing. Although very uncommon, there is a risk of miscarriage caused by CVS and amniocentesis testing.

Depending on the test results, parents may wish to consider a medical termination of pregnancy. Our physicians can offer both the services and support to assist parents during this difficult time and decision.

For More Information

For more information or to schedule an appointment, please call 847.570.5020.