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Parents Guide to Newborn Screening
The purpose of this page, and the printable brochures in the links below, is to answer commonly asked questions about the Wisconsin Newborn Screening Program and direct those interested to other websites for additional information.
Newborn Screening in Wisconsin Scroll down or click on a particular topic: Newborn screening is a special blood test for newborns. Just a few drops of blood from your baby’s heel are put onto a special test paper and sent to the Wisconsin State Lab of Hygiene to be tested. Newborn screening finds babies who may have a hidden disorder that needs early treatment. Hidden disorders are health problems that are difficult or impossible for you or your baby’s doctor to find just by looking at your baby. If not treated, these disorders can lead to slow growth, severe illness, brain damage, or possibly death. Early treatment can help prevent some of these serious health problems. Wisconsin law requires that all babies born in Wisconsin be screened before leaving the hospital. If your baby is born outside of a hospital, the screening test must be done within a week of birth. As a parent, you may refuse newborn screening for your baby only if your religious beliefs and practices do not allow this testing. If you refuse to have the test done, you may be asked to sign a paper stating that you refused to have your baby tested for these very serious disorders. The test is simple and safe. Some babies cry when their heel is pricked, but the discomfort lasts only a short time. There is a small risk of infection when the heel is pricked. This risk is very low.
What if my baby's test is abnormal? If the test is abnormal, you will be contacted within a few days after you leave the hospital. If your baby’s newborn screening result is abnormal, your doctor will talk with you about the next steps to take. An abnormal newborn screening result does not mean that your baby has a disorder. This is a screening test that finds babies who may be at risk for a disorder. Further testing must be done to find out if your baby has a disorder and needs treatment. Why do some babies need to be retested?
To repeat the newborn screening test, a new blood sample is needed from your baby. The newborn screening test is most accurate if your baby’s blood is taken after the first 24 hours of life. If your baby’s blood was collected before 24 hours of age, your doctor may ask you to repeat the test when your baby is 1 to 2 weeks old.
The Newborn Screening Disorders The following sections describe the disorders tested for by the newborn screen. If you have additional questions about these disorders, please ask your doctor. Argininosuccinic Acidemia (ASA) Babies with ASA can not properly digest the protein in foods, causing ammonia to build up in the blood. If not treated, babies lose appetite, start vomiting, become listless, and often have seizures. A baby with ASA is given a special formula high in calories and needs to receive regular medical care. Further special testing is needed to determine if a baby has ASA. Biotinidase Deficiency Babies with this problem do not have enough of the vitamin called biotin. Without this vitamin, the baby's growth and development will not be normal. A baby with biotinidase deficiency needs a medicine containing biotin and regular medical care. Related Links: Citrullinemia (Types I & II) Babies with Citrullinemia can not properly digest the protein in foods, causing ammonia to build up in the blood. If not treated, babies lose appetite, start vomiting, become listless, and often have seizures. A baby with citrullinemia is given a special formula high in calories and needs to receive regular medical care. Further special testing is needed to determine if a baby has citrullinemia Congenital Adrenal Hyperplasia (CAH) Most babies with this problem do not have enough of the chemical 21-hydroxylase. Without 21-hydroxylase, a baby's growth and development will not be normal. A baby with CAH is given medicine called hydrocortisone, and needs regular medical care. Related Links: Congenital Hypothyroidism A baby born with this problem does not make enough thyroid hormone. Thyroid hormone keeps a baby's body growing strong and healthy. Without it, poor physical and mental development can occur. This problem is treated with a daily medicine to replace the hormone, and regular medical care. Related Links: Cystic Fibrosis (CF) Cystic Fibrosis causes thick mucus to collect in the lungs which can lead to lung infections. In most people with cystic fibrosis, there is also difficulty in absorbing fat and protein. The lung and digestive problems are both treatable, and a baby with CF will need regular medical care and a good diet. Related Links: Galactosemia A baby with this problem cannot digest the sugar galactose. If not treated, galactose will build up in the body causing damage to the eyes, liver and brain. Babies with galactosemia must not have foods containing galactose or lactose, including breast milk and some infant formulas. Treatment includes a special diet and regular medical care. Related Links: Homocystinuria (HCU) Babies with HCU are unable to digest a part of food called methionine. If not treated, HCU can lead to seizures, developmental delay, eye problems, mental retardation or failure to thrive. A baby with HCU is given a special formula with special vitamins and needs to receive regular medical care. Hypermethioninemia Babies with hypermethioninemia have slightly elevated methionine levels on newborn screening and subsequent blood tests. Dietary treatment may or may not be required depending upon the methionine level. These babies require on-going blood tests to determine if dietary treatment will be necessary. Maple Syrup Urine Disease (MSUD) Babies with MSUD are unable to digest leucine, isoleucine, and valine. Leucine, isoleucine and valine are found in foods with protein. If not treated, MSUD can lead to poor feeding, vomiting, muscle weakness, and brain damage. A baby with MSUD is given a special formula and needs to receive regular medical care. Phenylketonuria (PKU) (Includes Biopterin Cofactor defects of regeneration and biosynthesis) Babies with PKU do not have the chemical needed to digest phenylalanine. Phenylalanine is found in foods with protein. If not treated, PKU can lead to brain damage and learning problems. A baby with PKU is given a special formula and needs to receive regular medical care. Related Link: Hyperphenylalaninemia Babies with hyperphenylalaninemia have slightly elevated phenylalanine levels on newborn screening and subsequent blood tests. Dietary treatment may or may not be required depending upon the phenylalanine level. These babies require on-going blood tests to determine if dietary treatment will be necessary. Sickle Cell Disease, Hemoglobin S/C Disease, Hemoglobin S-Beta Thalassemia Healthy red blood cells are shaped like a donut. With sickle cell disease, some red blood cells are sickle shaped like a banana. These cells can become trapped in blood vessels causing pain, discomfort, or damage. Babies with sickle cell disease are more likely to develop severe infections. Related Links: Treatment includes medications to lower this risk of infection such as penicillin and special vaccines. If needed, treatment may also include medications for pain. Babies with sickle cell diseases also need regular medical care.
Trait and Variant Hemoglobins The newborn screen for sickle cell diseases identifies those babies with hemoglobin traits (carriers) or other changes in red blood cells (variant hemoglobins). Babies with hemoglobin traits or variant hemoglobins for the most part require no treatment. Genetic counseling for the parents is recommended to determine the risk of having a future baby that may need treatment. Fatty Acid Oxidation Disorders The newborn screen tests for these 12 fatty acid oxidation disorders:
Babies with one of these disorders have trouble burning fat for energy. This can lead to vomiting, low blood sugar or more serious problems such as coma. Treatment depends on the disorder a baby has but may include a special diet and medication. A baby with a fatty acid oxidation disorder must have regular medical care.
Related Links Organic Acidemias The newborn screen tests for these 15 organic acidemias:
Babies with one of these disorders cannot remove certain waste products from their blood. This can lead to vomiting, low blood sugar or more serious problems such as coma. Treatment depends on the disorder a baby has but may include a special diet and medication. A baby with an organic acidemia must have regular medical care.
Related Links: Severe Combined Immune Deficiency (SCID) Babies born with SCID are high risk to die early because they cannot fight off common bacteria and viruses. Early detection through newborn screening and a bone marrow transplant can effectively cure SCID babies for life. Related Links: Tyrosinemia (Type I, II, III) Tyrosinemia Type I Babies with tyrosinemia type I are unable to digest tyrosine, which is a part of protein found in food. If not treated, tyrosinemia type I causes poor weight gain, vomiting, swelling of legs, and liver problems. A baby with tyrosinemia type I may require treatment with a special formula, medicine, or liver transplantation. Tyrosinemia Type II Babies with tyrosinemia type II are unable to digest tyrosine, which is a part of protein found in food. If not treated, tyrosinemia type II causes eye and skin problems. Also, may cause mild mental retardation. A baby with tyrosinemia type II may require treatment with a special formula or medicine. Tyrosinemia Type III Babies with tyrosinemia type III are unable to digest tyrosine, which is a part of protein found in food. If not treated, tyrosinemia type III causes severe illness resulting in mental retardation or death. A baby with tyrosinemia type III require treatment with a special formula or medicine.
Newborn Screening Program Or, visit their website: Wisconsin Division of Public Health Newborn Screening For additional information: |
