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GENETIC TESTING “Should I Have Genetic Testing?” Some diseases and birth defects are inherited, or passed from parents to their baby through genes. These are called genetic disorders. Doctors use genetic screening to find out if a couple is in a highrisk group for having a baby with a hereditary genetic disorder. If you and your partner are at risk of passing on a genetic disorder, genetic testing can confirm or rule out a problem. Knowing ahead of time if your baby has a genetic condition can help doctors give your newborn the best care possible. A gene that does not function properly can cause birth defects and genetic disorders. The gene is then said to be altered or changed. More than 4,000 birth defects have been identified and occur in 1 out of every 28 births. For example, Down syndrome is a genetic disorder. Individuals with Down syndrome have varying degrees of mental retardation and physical problems. “What is so important about knowing if the baby has a genetic condition?” “There are no genetic conditions in our families. Why should I worry?” Counselors can help explain medical information about an inherited condition or birth defect and how the disorder affects babies born with it. Counselors will discuss the risk of your baby having a problem, explain the testing that is available, and answer your questions. Their goal is to help you understand the information to better manage the problems in a way that is best for you and your family. Sometimes parents feel their baby is not at risk, but genetic disorders can occur even when there have been no problems in the family. This happens when both parents pass along the same altered gene. “What are genes?” Genes are the “recipes” that control traits like eye and hair color. The 46 human chromosomes contain genes which provide the instructions that help us develop and grow correctly. Because we have two copies of every chromosome, we have two copies of each gene. A baby gets half of his or her genes from the mother and half from the father. Cystic fibrosis, a disease that most commonly affects breathing and digestion, is an example. If both parents are carriers of this gene, there is a 1 in 4 chance for the baby to develop cystic fibrosis. There is no cure for cystic fibrosis. You could carry cystic fibrosis with no family history and even if you have other healthy children. Testing for you and your partner is available to determine if you are carriers for cystic fibrosis and if your baby is at risk of getting the disease. Muscular dystrophy is another disease that is inherited. Sons can inherit this disease from healthy mothers who carry the gene. The altered gene causes a change in the making of muscle tissue. Muscles deteriorate and become weak. Problems with walking and breathing complications occur. Babies with certain birth defects need to be delivered in a hospital where specialists are ready to help. The baby may need specialized care immediately after birth. “When can I have genetic testing?” A test called a “Triple Screen” or “Multiple Marker Screen” is available during pregnancy and can identify pregnancies at risk for certain genetic disorders. The triple screen test measures your blood for three different substances. These measurements plus your age, weight, and the gestational age of your baby are used to predict a risk for Down syndrome, spina bifida (neural tube defect), or trisomy 18. A neural tube defect results when the spinal cord fails to close somewhere along its ASK YOUR DOCTOR length. Bone and skin do not form over that section of the nervous system which leaves the tissue covered only by a thin membrane. Neural tube defects range in severity and can involve the brain or any part of the spinal cord. Genetic Testing Some genetic testing can be done before pregnancy to determine carrier status of high-risk couples. During early pregnancy a triple screen or ultrasound may be done to check for possible problems. If these tests show a problem, your doctor will recommend further testing. The tests are not perfect. Even with testing, your baby could have a genetic disorder or birth defect that doesn’t show up on tests. “I’m interested. Now what?” Ask your doctor about testing that is available, including the triple screen, testing for sickle cell disease, and the cystic fibrosis carrier screen. It is also important to tell your doctor about your family’s medical history, such as an older child with an inherited disorder, birth defect, or mental retardation; your own medication history; or other problems with diseases or disorders in your family. Talk to your doctor about taking folic acid and how much of this vitamin you need. This can reduce your risk of neural tube defects if you take it before you become pregnant and early in your pregnancy. ANTENATAL & NEONATAL GUIDELINES, EDUCATION AND LEARNING SYSTEM 4301 West Markham, #518 • Little Rock, AR 72205 Phone 501/526-7425 • Toll Free 1-866-273-3835 www.uams.edu/angels ANGELS “Ask Your Doctor” No. 3 © 2004 UAMS