Genetic Counseling

Genetic coundselors are healthcare professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Genetic counselors work as members of the health care team, providing information and support to families who have questions or concerns about birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions. We identify families at potential risk offer testing options to determine a diagnosis, interpret genetic test results and information about the disorder, analyze inheritance patterns and risks of recurrence and review available management options with the family. 

At St. Elizabeth Medical Center, we offer genetic counseling regarding:

• Early Screen (First Trimester Screening for Down syndrome, Trisomy 18/13 and heart defects)
• Amniocentesis
• Chronic villus sampling
• Carrier Screening (cystic fibrosis, sickle cell, thalassema)
• Maternal serum screening
• Birth defects, such as cleft lip or congenital heart disease
• Ultrasound anomalies, advanced maternal age, abnormal maternal serum screening
• Genetic diseases affecting children and adults such as cystic fibrosis, Down syndrome, and muscular dystrophy
• Infertility, stillbirth, infant deaths or more than one miscarriage
• Family or personal history of breast, ovarian, colon or other rare cancers
• Diseases that “run in the family” such as cancer, schizophrenia, manic depression, muscle disorders, and certain heart conditions

Genetic counselors also provide supportive counseling to families, serve as patient advocates and refer individuals and families to community or state support services. We serve as educators and resource people for other health care professionals and for the general public.

For more information or for an appointment, please call Women’s Outpatient Services at (859) 301-2445.