Prenatal Genetics

Pregnancy is usually an exciting, happy time for parents, filled with hopes and expectations. Most women have healthy, normal babies; however, the health and development of their unborn children are natural concerns for parents-to-be. Approximately 3-5 percent of all babies are born with a birth defect or hereditary condition. Many parents are unaware that they have an increased risk to have a baby with a health concern, especially since many times there is no known family history of a concern. In some families a risk may be identified, if medical information and a detailed family history are collected, analyzed, and interpreted. The reproductive genetics service at MacDonald Women’s Hospital is designed to help identify those pregnancies which may be at risk for health concerns, to discuss the chances of a problem, and to explain which, if any, genetic testing is appropriate to help diagnose the concern.

Genetic counseling is a service provided to help families understand risks and prenatal genetic testing options in a manner that is culturally sensitive and to help families make decisions that are appropriate for their unique situation. The reproductive geneticist team service team is comprised of both medical geneticists and genetic counselors who work for The Center for Human Genetics at University Hospitals of Cleveland. The staff also works very closely with The Center for Human Genetics Laboratory which offers the state-of-the-art genetic testing and diagnostic services.

Who should consider prenatal genetic counseling?

Any woman or couple who is pregnant or who is considering pregnancy who:

• Is or will be 35 years or older at delivery
• Has a previous child or relative with a genetic (hereditary) condition, chromosomale disorders, mental retardation, or other genetic birth defects
• Has had an abnormal maternal serum screen or an abnormal fetal ultrasound
• Has had an exposure to medications, infectious agents, or environmental factors that are known to cause birth defects
• Has had three or more miscarriages
• Are of certain ethnic groups in which certain genetic conditions are more common and testing has identified one or both members of the couple as a carrier

What services does the reproductive genetics program offer?

• Comprehensive genetic counseling and evaluation
• Prenatal diagnosis
  • Amniocentesis
  • Chorionic Villus Sampling
• Prenatal genetic screening
  • First and second trimester ultrasound studies
  • Maternal serum screening
  • Cell-free fetal DNA screening (non-invasive prenatal screening)
• Genetic carrier screening
• Preconception genetic counseling