Genetic Counseling

What is genetic counseling?

Genetic counseling provides information about genetic diseases, birth defects, and inherited disorders. A genetic counselor can explain how these disorders can be passed from parent to child. For people who have a family history of a certain disorder, genetic counselors can help explain their risk for having a baby with the same condition. They also can tell how this condition may affect a child.

Some genetic diseases or birth defects can be found before the baby is born. Others are not diagnosed until after birth or until the child grows older.

Who provides genetic counseling?

Medical geneticists (je-NET-uh-sists) and genetic counselors are trained to help families understand genetic disorders. Medical geneticists usually are doctors. They perform physical exams when needed and also help educate patients about genetic disorders.

Genetic counselors give information about risk factors and explain genetic tests that are available. Individuals or couples can use this information as they make decisions about becoming parents.

For people who are concerned about their family history, genetic counselors can:

  • Provide complete and accurate information about a specific disorder
  • Determine a couple’s risk of having a child with a particular disorder
  • Provide information about tests that can tell if a baby has a disorder before he or she is born

Who should see a genetic counselor?

If you are pregnant or planning to become pregnant, you could benefit from genetic counseling if:

If you have a family history of:

      • A genetic disorder (such as cystic fibrosis)
      • A birth defect (such as cleft lip)
      • A chromosome abnormality (such as Down syndrome
      • Mental retardation
  • Have had repeated pregnancy losses (miscarriages or stillbirths)
  • Are having difficulty becoming pregnant
  • Have been exposed to anything that may have a harmful effect on an unborn child. The technical name for things that can harm an unborn child is teratogen (TER-ah-toe-jen). This includes:
      • X-rays
      • Radiation
      • Some medicines
      • Alcohol
      • Street drugs
      • Some infections
  • Are of African American, Ashkenazi Jewish, or Mediterranean ancestry, or belong to another ethnic group with a high risk for certain genetic diseases
  • Are interested in prenatal diagnosis
  • Have been told your pregnancy may be at high risk for complications or birth defects based on results of an ultrasound (sonogram) or blood test

Others who can benefit from genetic counseling include those who:

  • Have a family history of cancer and wish to know their risk for developing cancer and ways to reduce this risk
  • Have failed to develop adult sexual characteristics: for example, men who do not develop facial hair or whose voices do not become deeper, and women who do not develop breasts or have menstrual periods

What happens during a genetic counseling appointment?

At the appointment, a genetic counselor asks the individual or couple many questions about their family and medical histories. The counselor also explains tests (including prenatal or blood tests) that can help find any problems. The counselor explains how a certain condition occurs. He or she also talks about the risk of this condition being passed on to any children. A physical exam by a medical geneticist also may be part of the appointment. The geneticist may suggest certain tests to help with diagnosis.


The UPMC Center for Medical Genetics is a regional leader in genetics education and research. If you have any questions about genetic counseling, please call the center at 412-641-4168 or 1-800-454-8155.

Revised September 2011

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