Prenatal genetic counselors work as members of a health care team, providing information and support to families who may have an increased risk for having a child with a birth defect or genetic condition. They have advanced training in genetics, the study of how traits are passed from parents to children.
When you meet with a prenatal genetic counselor you will discuss your pregnancy and family history. Since we will be reviewing your family history, you may find it helpful to talk to your parents or other relatives prior to your appointment. Depending on your particular circumstances, the genetic counselor may also review some specific screening and testing options that are available. A prenatal genetic counselor can also help provide valuable resources or referrals if your baby is found to have a birth defect. Most of the time, the genetic counselor is able to provide reassurance that your pregnancy is going well.
There are many reasons to meet with a genetic counselor. Some go because of a family or personal history of a genetic condition. Others see a genetic counselor because they have had trouble getting pregnant or because they have had several miscarriages or infant deaths. Some of the other common reasons you may be referred to a prenatal genetic counselor include:
- You will be 35 years of age or older when you deliver. This is because the odds of having a child with a chromosome change, such as Down syndrome, increase with maternal age.
- You have had a screening test (such as first trimester screening or quad screening) that revealed an increased risk for a chromosome change or spina bifida.
- You have had an ultrasound that has found a difference (or possible difference) in the baby’s development. Some examples of physical changes that can be found on an ultrasound include cleft lip, spina bifida and heart defects.
- You and your partner are close relatives, such as first cousins.
- You are concerned about genetic conditions that occur more frequently in certain ethnic or racial groups. For example, couples of African descent have a higher chance of having a child with sickle cell anemia; couples of European Jewish (Ashkenazi) or French Canadian descent have a higher risk for Tay-Sachs disease; and couples of Italian, Greek, or Middle Eastern descent have a higher chance to carry the gene for thalassemia, a blood cell disorder.