Parents today have many options when it comes to determining the health of their baby, while still in the womb. One of the tools in the array of prenatal tests available to parents is genetic counseling, or genetic testing. This process of testing either parent, both parents, or the fetus helps reveal if the baby is at risk of having, or will have a genetic, or inherited, disease. Genetic testing can also reveal if a baby has a genetic disorder that is not inherited, such as Downs syndrome or spina bifida.
Each parent contributes their own genetic information to a baby, who ends up with half of their genetic code from each parent. We have as many as 35,000 genes — only one has to have some sort of an error on it to result in a genetic disease. With some genetic disorders, only one parent has to pass it down, but with others, both parents have to have the gene to pass down. Genetic counseling can help you determine if you are at risk for passing down a genetic disorder to your future children.
The following are some of the most common inherited diseases:
- Sickle Cell Anemia
- Cystic Fibrosis
- Tay Sachs
- Huntington’s Disease
- Marfan Syndrome
You may want to consider genetic counseling if one or more of the following applies to you:
- You or your husband already has a child with an inherited disorder
- You’ll be 35 or older when you give birth
- You’ve had positive results on an alpha fetoprotein or amniocentesis test
- You’ve had two or more miscarriages
- You’ve had two or more children die in infancy
- You or your husband has a congenital defect of either the kidneys or heart
- You have concerns that your child may have a particular disease
- You may be a particular ethnicity that is predisposed to having a gene that has the genetic disorder
- You and your husband are in some way related
A genetic counselor can help you determine if you need genetic counseling, and how you will use the information. One very important aspect of deciding to do genetic counseling is how you will deal with the results if they show that your baby either has a genetic disorder or may have one. Some parents want to know ahead of time if they will potentially pass down a deadly or debilitating disorder, and may decide to explore other options such as sperm or egg donation, or adoption instead. For parents who are already pregnant, they may want to know ahead of time so that they can prepare to cope with a disabled child, or if they will carry the baby to term.
If you decide to do genetic counseling, you’ll have to find a genetic counselor to work with. These are trained professionals who have master’s degrees in genetics and in therapy or counseling. Both of these aspects of their education will be necessary as genetic counseling is not only confusing medically, but also emotionally as well. Check with the National Society of Genetic Counselors to start with your search.
Once your genetic counselor has counseled you on the pros and cons of testing, they’ll start with a comprehensive medical history on you, your husband and both of your families. They’ll then take you through the process which will include genetic testing of your DNA. Once the results are in, they’ll discuss them, explain your risks and help you get support if there are potential genetic disorders. Genetic counseling can be very expensive and is not always covered by insurance, so be sure that it is necessary, and carefully weigh how you will react to potentially bad news.