If you and your partner are newly pregnant, you may be amazed at the number and variety of prenatal tests available to you. Blood tests, urine tests, monthly medical exams, screening tests and family history tracking all help assess the health of you and your baby and predict potential health risks.
You may also have the option of genetic testing. These tests identify the likelihood of passing certain genetic diseases or disorders to your children.
Some of the more familiar genetic disorders are:
- Down syndrome
- Cystic fibrosis
- Sickle cell disease
- Tay-Sachs disease (a fatal disease affecting the central nervous system)
If your history suggests that genetic testing would be helpful, you may be referred to a genetic counselor. Or, you might decide to seek out genetic counseling yourself. But what do genetic counselors do, and how can they help your family?
What is genetic counseling?
Genetic counseling is the process of:
- Evaluating family history and medical records
- Ordering genetic tests
- Evaluating the results of this investigation
- Helping parents understand and reach decisions about what to do next
Genetic tests are done by analyzing small samples of blood or body tissues. They determine whether you, your partner or your baby carry genes for certain inherited disorders.
Genetic tests don't yield easy-to-understand results. They can reveal the presence, absence or malformation of genes or chromosomes. Deciphering what these complex tests mean is where a genetic counselor comes in.
About genetic counselors
Genetic counselors are professionals who have completed a master's program in medical genetics and counseling skills. They then pass a certification exam administered by the American Board of Genetic Counseling.
Genetic counselors can help identify and interpret the risks of an inherited disorder, explain inheritance patterns, suggest testing and lay out possible scenarios. They will explain the meaning of the medical science involved, provide support and address any emotional issues raised by the results of the genetic testing.
Who should see one?
Most couples planning a pregnancy or who are expecting don't need genetic counseling. According to the Centers for Disease Control and Prevention (CDC), about 3 percent of babies are born with birth defects each year, and of the malformations that do occur, the most common are also among the most treatable.
The best time to seek genetic counseling is before becoming pregnant, when a counselor can help assess your risk factors. But even after you become pregnant, a meeting with a genetic counselor can still be helpful. Experts recommend that all pregnant women, regardless of age or circumstance, be offered genetic counseling and testing to screen for Down syndrome.
It's especially important to consider genetic counseling if any of the following risk factors apply to you:
- A standard prenatal screening test (such as the alpha fetoprotein test) yields an abnormal result
- An amniocentesis yields an unexpected result (such as a chromosomal defect in the unborn baby)
- Either parent or a close relative has an inherited disease or birth defect
- Either parent already has children with birth defects, intellectual disabilities or genetic disorders
- The mother-to-be has had two or more miscarriages or babies that died in infancy
- The mother-to-be will be 35 or older when the baby is born
- Either parent is concerned about genetic defects that occur frequently in certain ethnic or racial groups
- Either parent is concerned about the effects of exposures they have had to radiation, medications, illegal drugs, infections or chemicals
Working with a genetic counselor can be reassuring and informative, especially if you or your partner have known risk factors. Talk to your doctor if you feel you would benefit from genetic counseling.