Genetics is the study of heredity, when a parent passes certain genes on to their children.
Genetic counseling is the process where women and their partners learn more about:
Couples who want to have a baby can have tests before they get pregnant. Doctors can also test a fetus (unborn baby) to see if the baby will have a genetic disorder, such as cystic fibrosis or Down syndrome.
It is up to you whether or not to have genetic counseling and testing. You will want to think about your personal desires, religious beliefs, and family circumstances.
Some people have a greater risk than others for passing on genetic disorders to their children. They are:
Doctors also suggest testing for:
Talk about genetic counseling with your doctor and your family. Ask questions you may have about the test and what the results will mean for you.
Keep in mind that genetic tests done before you conceive often can tell you only the odds of having a child with a certain birth defect. For instance, you may learn that you have a 1 in 4 chance of having a child with a certain disease or defect.
If you decide to conceive (get pregnant), you will need more tests to see if your baby will have the defect or not.
For those who may be at risk, test results can help answer such questions as:
You can prepare by finding out if any medical problems run in your family, such as:
Steps in genetic counseling include:
If you choose to be tested after you become pregnant, tests that may be done on the fetus (unborn baby) include:
These tests have some risks. They may cause infection, harm the fetus, or cause a miscarriage. If you are worried about these risks, talk to your doctor.
The point of genetic counseling is simply to help parents make informed decisions. A good genetic counselor will help you figure out how to use the information you get from your tests. If you are at risk or you find out that you will have a baby with a disorder, your counselor and doctor will talk to you about options and resources. But the decisions are yours to make.
Simpson JL, Holzgreve W, Driscoll DA. Genetic counseling and genetic screening. In: Gabbe SG, Niebyl JR, Simpson JL, eds. Obstetrics: Normal and Problem Pregnancies. 6th ed. Philadelphia, Pa: Elsevier Churchill Livingstone; 2012:chap 10.
Simpson JL, Richards DA, Otao L, Driscoll DA. Prenatal genetic diagnosis. In: Gabbe SG, Niebyl JR, Simpson JL, eds. Obstetrics: Normal and Problem Pregnancies. 6th ed. Philadelphia, Pa: Elsevier Churchill Livingstone; 2012:chap 11.
Updated by: Susan Storck, MD, FACOG, Chief, Eastside Department of Obstetrics and Gynecology, Group Health Cooperative of Puget Sound, Bellevue, Washington; Clinical Teaching Faculty, Department of Obstetrics and Gynecology, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.
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