Genetic counseling is a service to help individuals and families translate scientific knowledge into practical information. A genetic counselor works with a person or family that may be at risk for an inherited disease or abnormal pregnancy outcome, discussing their chances of having children who are affected.
Providers of genetic counseling include:
- Individuals who have followed a specific educational curriculum and who are certified genetic counselors (CGCs)
- Doctors or nurses with special training in the subject
These health care professionals are experienced in helping families understand birth defects and how inheritance works. They provide information that helps families make personal decisions about pregnancy, child care and genetic testing.
Who should get genetic counseling?
Anyone who has unanswered questions about origins of diseases or traits in the family should consider genetic counseling. People who may find it valuable include:
- Those who have, or are concerned that they might have, an inherited disorder or birth defect, like cystic fibrosis or sickle cell disease.
- Women who are pregnant or planning to be after age 35.
- Couples who already have a child with intellectual disabilities, an inherited disorder or a birth defect.
- Couples whose infant has a genetic disease diagnosed by routine newborn screening.
- Women who have had babies who died in infancy or three or more miscarriages.
- People concerned that their jobs, lifestyles or medical history may pose a risk to outcome of pregnancy. Common causes of concern include medications, street drugs, exposure to radiation, chemicals or infections.
- Couples who would like testing or more information about genetic conditions that occur frequently in their ethnic group.
- Couples who are first cousins or other close blood relatives.
- Pregnant women whose ultrasound examinations or other prenatal test indicate that their pregnancy may be at increased risk for certain complications or birth defects.
What happens at a genetic counseling appointment?
When you go to see a genetic counselor, he or she:
- Will record your family history (for instance, if your parents, grandparents or siblings had heart disease, diabetes, etc.) and your own medical background.
- May arrange appointments for blood tests, physical exams, or amniocentesis.
- Will try to put together a picture of how your family's health may affect your children.
- Will help you interpret medical information about any risks present and explain the role of genetics in these conditions.
Often genetic counselors can determine the risk of occurrence or recurrence of a condition and the availability of tests for it.
Evaluation of tests results usually is coordinated between the genetic counselor, the person or couple and the doctor. In the occasional case of troubling results, the counselor will provide information to help you make decisions (for instance, on the risk of having a child or more children). The counselor or the doctor can refer you to resources in your community that deal with a specific genetic condition, or to medical specialists, educational specialists or family support groups.
How do you find a genetic counselor?
A family can seek genetic counseling directly or be referred by a physician. Comprehensive genetic services centers are available in the United States, usually located within large medical centers or teaching hospitals. Smaller areas may be served by satellite clinics.
If you think you could benefit from genetic counseling:
What are other genetic resources?
There are many organizations that can provide you with guidance and information on a wide variety of topics related to genetics and specific inherited disorders. These are just a few:
March of Dimes - Ask us
1275 Mamaroneck Avenue
White Plains, NY 10605
4301 Connecticut Avenue, N.W., Suite 404
Washington, DC 20008
National Society of Genetic Counselors
401 N. Michigan Avenue
Chicago, IL 60611
National Center for Education on Maternal and Child Health
P.O. Box 571272
Washington, DC 20057
National Organization for Rare Disorders (NORD)
P.O. Box 1968
Danbury, CT 06813
For more information
Centers for Disease Control and Prevention (CDC)
CDC Show Your Love Campaign
Last reviewed December 2013
Frequently Asked Questions
How do you know you're pregnant?
Knowing the signs of pregnancy can help you tell if you’re pregnant. Here are some signs that you might be pregnant:
If you have any of these pregnancy signs and think you may be pregnant, go to your health care provider. The sooner you know you're pregnant, the sooner you can begin prenatal checkups and start taking good care of yourself and your growing baby.
How soon can I take a pregnancy test?
Home pregnancy tests are usually more accurate when your period is late - about 2 weeks after conception (getting pregnant). If they're done too early, they may say that you're not pregnant when you really are. This is called a false negative. That's why it’s best to take a home pregnancy test when your period is late. Carefully follow the test's instructions. Tests done at a lab or at your health care provider's office are more accurate.
I’m late for my period but my pregnancy test is negative. Why?
If you've taken a home pregnancy test and it's negative (shows that you're not pregnant), you may want to take a blood pregnancy test at your health care provider's office. A blood pregnancy test is more sensitive than a home pregnancy test that checks your urine. The blood pregnancy test can tell a pregnancy very early on.
Pregnancy tests work by looking for the hormone called human chorionic gonadotropin (hCG), a hormone that a woman's body makes during pregnancy. If both a blood and urine test come back negative and you still have a missed period, talk with your health care provider. Things like stress, eating habits, illness or infection can cause changes in your menstrual cycle.
I’ve been trying to get pregnant for 3 months. What’s wrong?
Pregnancy may not occur right away, so there is no need to worry. For most couples, it may take up to 1 year to conceive. If you’ve been trying to get pregnant for more than a year, or 6 months if you're over 35, it may be time to talk with your health care provider. You and your partner can get tests to find out why you are not getting pregnant
Is it possible to ovulate without having a period?
Ovulation is when a woman's ovary releases an egg. This egg travels down into the fallopian tube. If you had sex without using birth control, sperm will swim up to meet your egg so that your egg can be fertilized. If no fertilization occurs, and after about two weeks, your body sheds the unfertilized egg, the uterine lining and blood and tissue that would have nurtured a fertilized egg. This is known as menstruation (your period).
You ovulate before you menstruate. But if you don't get your period, it doesn't necessarily mean that you haven't ovulated. For example, some women have irregular cycles. Even if you're very regular, once in a while your cycle may change. Therefore, it's hard to pinpoint exactly when you ovulate. If you don't get your period, you may want to take a pregnancy test.
What is the best time to get pregnant?
The best time to get pregnant is a few days before ovulation or the day of ovulation. This is because a man's sperm can live up to 72 hours after intercourse and a woman's egg is fertile for 12 to 24 hours after its release. If your periods are regular, use an ovulation calculator. If your periods are irregular, use one of the following. Talk to your health care provider to learn more about the most effective way to use these.
- Purchase a basal body thermometer. Use it to take your temperature before you get out of bed every day. Your temperature goes up by 1 degree when you ovulate.
- Check the mucus in your vagina. It may become thinner, more slippery, clearer and more plentiful just before ovulation.
- Purchase an ovulation prediction kit. Use it to test your urine for a substance called luteinizing hormone (LH). LH increases each month during ovulation.
Have intercourse as close as possible to ovulation to improve your chance of getting pregnant.