![]() |
Genetic Counseling & Prenatal DiagnosisFrom Mallinckrodt Inc. Healthy Mother and Baby |
|
Genetic counseling researches the
family and medical history of potential parents using perception
tests, which determine the risk of having a child with a genetic
birth defect or disorder. Prenatal diagnosis tests an already
conceived fetus for genetic abnormalities.
What is it? (Overview) Modern genetics allows us to understand how genetic diseases are inherited based on DNA, genes, and chromosomes. We can now test couples and fetuses for certain inherited disorders, as well as other chromosomal and genetic abnormalities such as neural tube defects, Down's syndrome, and cystic fibrosis. For more information on this complex subject, see heredity and disease. Couples who are thinking about having a child may consider genetic counseling and prenatal diagnosis before conception to predict any possible abnormalities in their child. Others may use the tests after they conceive to evaluate the condition of the fetus. People who are concerned about the following conditions and choose to undergo counseling and diagnosis before becoming pregnant, may include:
In other cases, prenatal testing is done after the baby has already been conceived in order to discover diseases such as Down syndrome and spina bifida, as well as those conditions already discussed. Besides the couples listed above, counseling and diagnosis are also recommended for mothers over the age of 35, and those who have received abnormal alpha-fetoprotein test results. For more information about the alpha-fetoprotein test, and when and why you might have it, see alpha-fetoprotein. For those who may be at risk, genetic counseling and prenatal diagnosis are used to help answer some important questions, such as:
It is important to remember that preconception testing can only give you the odds of having a child with a certain birth defect; a genetic counselor maps out the specific numbers. It may be determined, for example, that you have a one in four chance of having a child with a certain disorder. If you decide to conceive, the fetus can undergo prenatal testing that will reveal whether or not the baby has inherited the disorder.
How can I prepare? (Preparation)
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. 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? (Procedure)
You will be required to fill out an in-depth family history, and discuss your family's medical past with the counselor. You and your partner may also take simple blood tests, or undergo an analysis of your chromosomes known as karyotyping. All this information will be considered together to help determine what genetic patterns you may pass on to your children. If you choose to be tested after conception, one of the following tests will be used to obtain fetal cells whose genetic and chemical makeup can be analyzed in a laboratory. You may undergo:
What are the risks?
(Complications)
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 karyotyping, amniocentesis, CVS, and PUBS.
Frequently asked questions (FAQ)
Q: If I am in a risk group, do I have to get tested? A: No. Whether or not to undergo genetic counseling and prenatal testing is a very personal decision. Your religious or philosophical beliefs, family circumstances, and personal desires all are a part of the decision-making process. Q: If I discover I am a carrier of a certain disease, will I still be allowed to have a baby? A: Absolutely. The point of genetic counseling and prenatal diagnosis is simply to provide parents with information that they need to make important decisions. A good genetic counselor will help you figure out how to use the information you discover, but will not make any decisions for you.
Glossary
Alpha-fetoprotein: A protein manufactured by the fetal yolk sac, and later by the fetus' gastro-intestinal tract and liver, that can help detect Down's syndrome, spina bifida, and other abnormalities. Amniocentesis: A prenatal test to detect birth defects that is performed around the 15th to 18th week of pregnancy. It involves inserting a needle through the abdomen to retrieve placental cells. Artificial insemination: Impregnating a female with male semen using methods other than intercourse. |

Articles
Register for 
