A Newborn Screening Guide for Parents

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Why does my baby need newborn screening? All parents want healthy babies. And, in most cases, children born in the United States are healthy. But some babies who seem fine at birth may have a serious, rare disorder that cannot be seen. If not treated, these disorders can slow a baby’s growth or cause brain damage and, possibly, death. If found early, treatment can help prevent these serious problems. Since newborn screening is not a diagnostic tool, sometimes further tests are needed. Please keep in mind that, while these tests are very reliable, results may be abnormal even when a baby does not actually have a problem and, rarely, a baby who does have a disorder may have a normal screening test. Newborn screening results are given to your baby’s doctor as a guide in checking your baby’s risk for certain rare disorders. Newborn screening by the Illinois Department of Public Health (IDPH) is required by state law, and every baby born in the state is screened for these rare disorders. As a parent, you may refuse newborn screening only if your religious beliefs and practices do not allow testing. You may be asked to sign a form if you refuse to have your baby tested for these serious disorders. How will you test my baby? All babies must be screened before going home from the hospital. A few drops of blood are collected by pricking your baby’s heel. The blood drops are blotted on a special paper form that is sent to the Illinois Department of Public Health laboratory. This is all that is needed to screen for these disorders. Newborn screening is most accurate if your baby’s blood is tested after the first 24 hours of life. If your baby goes home from the hospital sooner that 24 hours after birth, you should make an appointment with your baby’s doctor to have another screening. If your baby is born at home, you need to make an appointment with your baby’s doctor or hospital to have a newborn screening test. If the screening results are unclear, your baby’s doctor will contact you to have another test. SO, IT IS VERY IMPORTANT THAT YOUR HOSPITAL AND YOUR BABY’S DOCTOR HAVE YOUR CORRECT NAME AND TELEPHONE NUMBER IN CASE A REPEAT SCREENING IS NEEDED OR IF YOUR BABY NEEDS TO SEE A SPECIALIST. What disorders are included with newborn screening? All babies born in Illinois should be screened for the disorders listed below. Following is a short description of the disorders included in Illinois newborn screening. If you live in Illinois, but deliver your baby in another state, your baby may not be screened for these same disorders. You may want to discuss with your baby’s doctor, how to obtain additional screening if necessary. This screening is most accurate soon after your baby is born, so it is important to make arrangements before your baby’s birth, or as soon as possible after birth. Biotinidase Deficiency Biotinidase deficiency may occur in one of every 150,000 births. Babies with this problem do not have enough of a vitamin called biotin. Without treatment, the baby’s growth and development will not be normal. A baby with biotinidase deficiency needs medicine containing biotin and regular medical care. Congenital Adrenal Hyperplasia Congenital adrenal hyperplasia (CAH) may occur in one of every 15,000 births. Most babies with this problem cannot produce enough of a hormone called cortisol. Sometimes, they also cannot produce enough of a salt-retaining hormone. Babies with CAH may develop medical problems, including severe fluid loss (dehydration). Without enough cortisol, a baby’s growth and development will not be normal. A baby with CAH is given medicine to replace these important hormones and needs regular medical care. Galactosemia Galactosemia may occur in one of every 60,000 newborns. A baby with galactosemia cannot digest a certain part of milk sugar called galactose. The resulting buildup of galactose in the baby’s body can cause serious medical problems, including liver and brain damage. Babies with galactosemia are treated with a special lactose-free diet and need regular medical care. Early treatment can help prevent physical and mental damage. Hypothyroidism Congenital hypothyroidism may occur in one of every 3,500 newborns. A baby born with this problem does not make enough thyroid hormone, which is needed to help the baby grow normally and stay healthy. Without thyroid hormone, a baby’s growth and mental development will not be normal. A baby with congenital hypothyroidism is treated with medicine to replace the missing thyroid hormone and needs regular medical care. Phenylketonuria Phenylketonuria (PKU) may occur in one of every 12,000 births. Babies with PKU, an amino acid disorder, cannot properly use a substance found in proteins, phenylalanine. If this problem is not found and treated early, PKU can cause developmental delays and mental retardation. A baby with PKU is given a special formula and diet, and needs regular medical care. Sickle Cell Disease, Trait and Related Conditions Each year, it is estimated that more than 80 babies in the state will be diagnosed with sickle cell disease, and 40 more babies will be diagnosed with another kind of sickling disorder. Sickling disorders can cause pain, damage vital organs and lead to serious infections. Babies with these disorders are treated with antibiotics, and need immunizations and regular medical care to help prevent some of these medical problems. The newborn screening for sickle cell disease also may find other related conditions that may or may not need treatment. Other Metabolic Disorders In 2002, the Illinois Department of Public Health added a new type of technology – called tandem mass spectrometry, or MS/MS – to enhance newborn screening. MS/MS allows the Department to test for other rare disorders, including some of the amino acid, urea cycle, fatty acid oxidation and organic acid disorders. Babies with these disorders cannot breakdown or remove certain chemicals from their bodies. Without treatment, these chemicals can build up in the baby’s body and cause serious health and developmental problems. It is expected that this additional screening capability will identify about 60 to 70 babies each year. Amino Acid and Urea Cycle Disorders PKU is one of the more familiar of the amino acid disorders. Babies with amino acid and urea cycle disorders cannot properly process amino acids, the building blocks of proteins. Without treatment, the buildup of these chemicals can cause serious medical problems affecting the baby’s health and development, including damage to vital organs, seizures and coma. Treatment depends on the disorder the baby has, but may include special low protein diets, medical treatments and medications. A baby with an amino acid or urea cycle disorder must have regular medical care. Fatty Acid Oxidation Disorders Babies with one of these disorders have trouble burning fat for energy. Without treatment, these disorders can lead to serious medical problems affecting the baby’s health and development, including seizures, liver damage and coma. Treatment depends on the disorder the baby has, but may include special diets, supplements and medications. Babies with fatty acid oxidation disorders must have regular medical care. Organic Acid Disorders Babies with organic acid disorders cannot remove certain waste products from their blood. Without treatment, the buildup of these waste products causes serious medical problems affecting the baby’s health and development, including seizures, coma and brain damage. Treatment depends on the disorder the baby has, but may include special diets, supplements and medications. A baby with an organic acid disorder must have regular medical care. Where do I get my baby’s screening results? Your baby’s doctor will receive a report with the screening results and will discuss them with you. You have the right to ask your doctor or nurse to explain the newborn screening process and to provide the results to you. If you have questions about newborn screening, see the Additional Information section at the end of this page.