Genetic Testing and Counseling

At a typical counseling session, couples will discuss their respective family histories, determining the risk factors, and ultimately, deciding which, if any, tests are appropriate. "Couples will work together with their genetic counselor to make sure about the true risks and variety of issues that can affect their children," says Dr. Neil Silverman, MD, medical director of inpatient obstetric services with the Department of Obstetrics and Gynecology at Cedars-Sinai Medical Center in Los Angeles, California. "While meeting with a genetic counselor, couples are often very surprised at what they thought would not be pertinent. The role of the genetic counselor is to work hand in hand with a couple to explore the risk factor—not to frighten them, but to help them discuss the options and to educate."

Genetic counseling can be an extremely valuable tool for couples that fall into one or more of the following categories:

• The mom-to-be will be age 35 or older on her due date.
  
  
• The expectant woman, her partner, children, or any other family member have a genetic disorder, birth defect, or developmental delay.
  
  
• An expectant woman whose ultrasound and/or blood testing reveals that her pregnancy may be at risk for certain medical complications or a variety of birth defects.
  
  
• A woman who has had previous babies who died in infancy, or three or more miscarriages.
  
  
• A couple with an "at risk" background or ethnicity. This includes families of Eastern European Jewish ancestry, particularly those who are Ashkenazi Jewish, who are at risk to be carriers of multiple genetic conditions, including Tay Sachs. Families with Mediterranean/African/Asian backgrounds are at risk for two crippling blood disorders, Thalassemia and sickle cell anemia, as well as other medical conditions including cystic fibrosis.

The genetic counselor will make a record of your family history, environmental risk factors, and will then forward his or her report to your primary care physician or obstetrician. "By gathering this detailed family history of genetic traits, occupational and environmental exposure, ethnic-religious backgrounds, we are better able to risk assess each individual patient," explains Dr. Genevieve Sicuranza, MD and chief of maternal fetal medicine in the Department of Obstetrics and Gynecology at Winthrop University Hospital in Mineola, New York.

Genetic Prenatal Screening Tests

Genetic tests available today have greatly increased a couple's ability to determine the likelihood of genetic disorders being diagnosed in their children. The most common forms of prenatal genetic screening exams are amniocentesis, chorionic villus sampling (CVS), and expanded alpha-fetoprotein (AFP).