Genetics is the study of heredity, the process of a parent passing certain genes on to their children.
Genetic counseling is the process where parents can 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 that are done before you get pregnant (conceive) can usually only tell you 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, 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 like these run in your family:
Steps in genetic counseling include:
If you choose to be tested after you become pregnant, tests that may be done during the pregnancy (either on the mother or fetus) 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 purpose of genetic counseling is simply to help parents make informed decisions. A genetic counselor will help you figure out how to use the information you get from your tests. If you are at risk, or if you find out that your baby has 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: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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