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Genetic counseling

What Is Genetic Counseling?

Genetics is the study of heredity, when a parent passes certain genes  on to their children.

  • A person's appearance -- height, hair color, skin color, and eye color -- are determined by genes.
  • Birth defects and certain diseases are also often determined by genes.

Genetic counseling is the process where women and their partners learn more about:

  • How likely it will be that their child would have a genetic disorder
  • What tests can check for genetic defects or disorders
  • Deciding whether or not you would like to have tests

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.

Who May Want Genetic Counseling?

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:

  • People who have family members or children with genetic or birth defects
  • Jews of Eastern European descent. They may have a high risk of having babies with Tay-Sachs, or Canavan’s disease.
  • African-Americans, who may risk passing sickle-cell anemia (blood disease) on to their children
  • People of Southeast Asian or Mediterranean origin, who are at a higher risk of having children with thalassemia, a blood disease
  • Women who were exposed to toxins (poisons) that could cause birth defects
  • Women with health problems that may affect their fetus, such as diabetes
  • Women who have miscarried (lost a baby before it could be born)

Doctors also suggest testing for:

  • Women who are over the age of 35, though genetic screening is now available for all ages of women
  • Women who have had abnormal results on tests such as alpha-fetoprotein (AFP)

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.

What Will Counseling and Tests Tell Me?

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:

  • Are the chances of having a baby with a genetic defect so high that we should look at other ways to start a family?
  • If you have a baby with a genetic disorder, can treatments or surgeries help the baby’s problems?
  • How do we prepare ourselves for the chance we might have a child with a genetic problem? Are there classes or support groups for the disorder? Are there doctors nearby who treat children with the disorder?
  • Should we continue the pregnancy? Are the baby’s problems so severe that we might choose to abort the baby (end the pregnancy)?

What Will Happen?

You can prepare by finding out if any medical problems run in your family, such as:

  • Child development problems
  • Miscarriages
  • Stillbirth
  • Severe childhood illnesses

Steps in genetic counseling include:

  • You will fill out an in-depth family history form, and talk to the counselor about health problems that run in your family.
  • You and your partner may also get blood tests, or karyotyping (tests of your chromosomes).
  • Your family history and test results will help the counselor look at genetic defects you may pass on to your children.

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.

What If I Carry a Genetic Disorder?

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: 5/31/2012

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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