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A genetic counselor can help you figure out your chances of having a baby with a genetic disorder or birth defect. She'll review your health history, your potentially dangerous exposures, and the results of prenatal tests. The counselor can provide support and guidance for your next step, if your baby does have a problem.
What is a genetic counselor?
A genetic counselor is a medical professional who can guide you through the complex information about your chances of having a child with a genetic disorder or birth defect – as well as through the testing, treatment, and other options available. The counselor's role is to translate all the technical and scientific information and to help you sort out your feelings so that you can make informed choices and decide what's right for you and your family.
You can meet with a genetic counselor while planning a pregnancy, during your pregnancy, or after your child is born (if you have concerns that your child may be showing signs of a genetic disorder).
Should I talk to a genetic counselor?
You may want to talk to a genetic counselor if any of the following apply to you:
- You'll be 35 or older on your due date. (The odds of having a child with a chromosomal abnormality such as Down syndrome increase with age. A 25-year-old pregnant woman has about a 1 in 1,200 chance of carrying a baby with Down syndrome. At age 35, the odds are about 1 in 350. At 40, they're about 1 in 100, and at 45 they jump to 1 in 30.)
- You, your partner, one or more of your children, or any other family member has a genetic disorder, birth defect, or developmental delay.
- You or your partner has had genetic carrier screening indicating that your child could inherit a genetic disorder.
- The baby's father is your first cousin or another close blood relative.
- You've had a history of infertility, stillbirth, three or more miscarriages of unknown cause, or a baby who died in infancy.
- Your ethnic background puts your baby at a higher risk for a condition such as Tay-Sachs or sickle cell anemia.
- You've had chemotherapy or have a medical condition, such as epilepsy or diabetes, which could directly affect your baby's health or require you to take medications that could affect his health.
- You've been exposed to substances that may cause birth defects, such as radiation or toxic chemicals.
- You've had certain infections (such as rubella, chicken pox, or cytomegalovirus) during your pregnancy.
- You've used alcohol or drugs during your pregnancy.
- You had a positive result on your nuchal translucency screening or first trimester combined screening, noninvasive prenatal testing, or on your multiple marker screen.
- Your ultrasound indicated a possible problem.
- Your baby has been diagnosed with a genetic disorder through prenatal testing such as amniocentesis or chorionic villus sampling.
- You're worried about your chances of having a child with a birth defect or genetic disorder and you want to know more about the available testing.
What happens at a genetic counseling session?
Your genetic counselor will offer you practical and emotional support. She will review with you:
Your health history
The counselor will ask you and your partner for your family health histories as far back as possible, so try to speak with relatives ahead of time to find out about any birth defects or chronic illnesses (such as heart disease or diabetes) in either of your families.
You'll need to find out whatever you can about the health histories of your parents, siblings, children, aunts, uncles, and grandparents. (For help, try using the Center for Disease Control's Family Health Portrait.)
Your counselor will talk to you about any inherited disorders that show up in your family history and your chances of passing them on to your child.
Your counselor will also ask about any toxic substances you may have been exposed to or medications you may be taking or have taken during your pregnancy, so bring a list of those.
The counselor can help you understand the risks, benefits, and limitations of any prenatal tests you're considering and the results of tests you've already taken. She can coordinate further prenatal testing, if you wish.
An average counseling session takes about 20 to 60 minutes, but take all the time you need to ask questions. Afterward, the counselor will write a summary of the session and send it to you and your practitioner, if appropriate. A genetic counselor may also provide referrals to community resources, including support networks.
What kinds of prenatal tests will I be offered?
- Carrier screening can be done before or during your pregnancy to find out if you or your partner carry the genetic mutation for disorders such as cystic fibrosis or sickle cell disease that could affect your baby.
- Screening tests help determine your risk for carrying a baby with genetic disorders or chromosomal abnormalities, such as Down syndrome as well as heart defects and neural tube defects.
- Diagnostic tests, such as amniocentesis and chorionic villus sampling, can tell you for sure whether your baby has a wide range of genetic or chromosomal conditions. (Some people choose to undergo screening tests first to help them make decisions about further testing.)
What if I find out that my baby might have a problem?
The counselor will be there to offer support and guidance. Genetic counselors work with you and your family to help you absorb and digest information. They can put the risks in perspective by giving you information and will help you articulate your feelings.
Some counselors ask open-ended questions to get you thinking about your options. What would having a handicapped child mean to your family? If you have other children, how would it affect them? Would they feel resentful of their sibling's lifelong needs for special care? Or might the experience enhance the older kids' life by teaching empathy and tolerance?
Will a genetic counselor attempt to steer us in a particular direction?
No. You'll be advised of your options, but genetic counselors won't make any decisions for you, nor will they suggest you follow a certain course of action.
A good counselor will explain the outlook for a child with an abnormality and describe the treatments that might be necessary, both immediately after birth and throughout the child's life. After speaking with a genetic counselor, you'll be better equipped to choose whether to prepare for a child with disabilities or end the pregnancy.
I'm completely opposed to abortion. Should I still meet with a genetic counselor?
Even if you and your partner are opposed to abortion, don't automatically say no to prenatal testing or genetic counseling. For many couples, the information offered provides reassurance in the face of uncertainty and some sense of control over the situation.
Knowing ahead of time that your child has a problem would enable you to seek advice from many sources, grieve for the perfectly healthy child you hoped for, and deal with any guilt you may feel – before the birth of your new baby. Your genetic counselor can help you find the right support group should you need one.
How do I find a genetic counselor?
Your healthcare practitioner should be able to refer you to one. Or you can contact the National Society of Genetic Counselors or your local chapter of the March of Dimes for information about services in your area.
If you're thinking about meeting with a genetic counselor in preparation for becoming pregnant, you might also want to read our article on why you need a preconception checkup (and what to expect). If you're meeting with a counselor early in your pregnancy, you may be feeling overwhelmed with testing options. Our article on prenatal testing and screening options will give you a good handle on them.
Infections that can affect pregnancy