Identifying and Treating Genetic Diseases and Birth Defects

If you are experiencing a pregnancy in your late 30s or 40s, come from an ethnic group with high rates of certain diseases, or have a strong family history of cancer, you may be concerned about your health or the health of your baby. 

Augusta University Medical Center’s Genetics Department is here for you. Its dedicated staff evaluates, counsels and cares for pregnant women whose babies may be at risk of genetic diseases or birth defects and counsels and tests women who may have certain types of hereditary cancer.

The department offers:  

  • Board-certified physician geneticists and genetic counselors
  • First trimester screenings, a blood test and ultrasound offered to all women between 11 and 13 weeks to evaluate the risk for Down Syndrome, trisomy 13 and trisomy 18
  • Maternal serum screening, a blood test offered to all women between 15 and 20 weeks to evaluate the risk for neural tube defects, Down syndrome and trisomy 18
  • Ultrasound screenings to identify birth defects or signs of genetic conditions, ideally performed between 16 and 20 weeks  
  • Genetic counseling and testing for breast, colon and ovarian cancers
  • Diagnostic tests to diagnose chromosomal abnormalities and other genetic disorders. These  include chorionic villus sampling (CVS) and amniocentesis.
  • Education about genetic diseases and birth defects
  • Ancestry-based carrier screening, for women whose ethnicity may increase the risk of certain disorders
  • Newborn screening to detect certain genetic disease which benefit from early diagnosis and treatment
  • Genetic counseling to review the benefits, risks, limitations and ramifications of genetic testing  
  • Works with physicians to treat birth defects through vitamin, gene and enzyme-replacement therapy
  • Works with physicians to perform pre-implantation studies to diagnose genetic diseases in embryos before implantation through in vitro fertilization  

For more information or to schedule an appointment, call (706) 721-2273 (CARE) or 800-736-CARE (2273) now.