Genetic Counseling

• Jews of Eastern European descent, who may have a high risk of having children with Tay-Sachs or Canavan’s, metabolic disorders that lead to death in early childhood.
• African-Americans, who may risk passing on sickle-cell anemia to their children.
• Couples of Southeast Asian or Mediterranean origin, who are at increased risk of having children with thalassemia, a severe form of anemia.
• People with family histories of inherited disorders, or those who have previously had children with genetic disorders.
• Women who were exposed to toxins that could cause birth defects.
• Women with prior medical conditions or diseases that may affect their fetus, such as diabetes.
• Couples who share a common ancestor.
• Women with a history of multiple miscarriages.
• Couples who have family members with birth defects or severe developmental problems.

• Should we have a baby? Are the chances of having a baby with a genetic defect so high that choosing adoption or artificial insemination may be a better way to start a family?
• How can we treat the fetus' potential defects? Are there surgical techniques available or other medical interventions that may help alleviate problems?
• How do we prepare, physically and psychologically, for the possible outcome of a pregnancy? Are there special educational classes, training, or information that we need in order to raise a child with defects?
• Should we continue the pregnancy? Are the fetus' abnormalities so severe that we might choose to have an abortion?

How Can I Prepare?

You may wish to discuss genetic counseling with your family, as well as your health care provider, who may refer you to a genetic counselor specially trained to understand the complex issues surrounding heredity and pregnancy. Find out if any medical problems run in your family, especially any problems with child development, miscarriages, stillbirths, or severe childhood illnesses. If you decide to get the blood-screening test, make sure your health care provider talks to you beforehand and answers any of your questions.

What Will Happen?

• Amniocentesis, in which fluid is withdrawn from the amniotic sac and analyzed. See amniocentesis for more information.
• Chorionic villus sampling (CVS), which takes a sampling of the cells of the placenta. See CVS for more information.
• Percutaneous umbilical blood sampling (PUBS), which draws fetal blood from the umbilical cord. See PUBS for more information.

What Are The Risks?

The tests used for genetic counseling have virtually no risks. The tests used after conception, however, may cause infection, damage to the fetus, or miscarriage. For further information, see the articles on amniocentesis, CVS, and PUBS.

Frequently Asked Questions

Q: If I am in a risk group, do I have to get tested?

Review Date: February 19, 2007
Reviewed By: Douglas A. Levine, MD, Gynecology Service, Memorial Sloan-Kettering Cancer Center, New York, NY. Review provided by VeriMed Healthcare Network.

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