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What kind of tests will my baby have?

The State of Nebraska requires that every baby have a blood test for PKU, hemoglobinopathies, galactosemia, biotinidase and thyroid function. Babies born in Iowa are also required to have a test called congenital adrenal hyperplasia (CAH). All of these tests will be done by getting a small blood sample from your baby in the first 48 hours of life.

Phenylketonuria (PKU):  This is a rare hereditary disorder that causes a build-up of phenylalanine, an amino acid, in the blood. A build-up of this amino acid can cause mental retardation and severe developmental delays. If your baby tests positively for PKU, he will be placed on a special diet. This diet will either restrict or eliminate the food with phenylalanine. At the one-month checkup, a retest may be done.

Biotinidase:  This is a very rare hereditary disorder which prevents the body from properly using the vitamin biotin. A lack of biotin may cause skin rashes, seizures, stunted growth or coma resulting in death. These children are treated by giving doses of biotin.

Congenital Hypothyroidism:  This is an uncommon medical disorder in which the body has an abnormally low amount of thyroid hormone. The body needs thyroid hormone (T4) to regulate growth and many body functions. Low thyroid levels can cause mental retardation, developmental delays and stunted growth. Low thyroid is treated by giving medicine (Levothyroxine) to replace the hormone.

Galactosemia:  Galactosemia is a very rare disease of galactose (a type of sugar) metabolism which, if left untreated, may lead to failure to thrive, vomiting, liver disease, cataracts and mental retardation. This disease is treated by a special formula and diet.

Hemoglobinopathies:  Hemoglobinopathies are a group of genetic disorders characterized by production of abnormal hemoglobin which may cause clinical disease such as anemia (including sickle cell) or oxygen-carrying difficulties.

Medium Chain Acyl Co-A Dehydrogenase Deficiency (MCAD):  This is a disorder of fatty acid metabolism. When babies and children with MCAD become ill or have long periods of fasting, their blood sugars become dangerously low and can lead to seizures, failure to breathe or serious brain damage. Screening can provide a diagnosis before the symptoms occur. Parents can then prevent the fasting periods and know when to seek early medical care. A special diet supplement is often added to the baby's diet to help prevent problems.

You will also be asked to sign a consent form for a "supplemental newborn screen." You will receive a booklet that explains in detail everything about supplemental screening. There are approximately 30 other rare disorders that can be screened. Because these disorders are rare, we do not always know the best medical practice for treatment. Therefore, screening for them is not required like it is for the six other screened disorders. For more details on these disorders, please read "The Parent's Guide to Your Baby's Newborn Screening." Your baby's nurse will provide this booklet for you.

Hearing Screen:  All babies will also have a hearing screen before discharge from the NICU. Significant hearing loss is one of the most common major birth defects. If not found early, hearing loss will delay speech, language and development in children. Detection and treatment of hearing loss before 6 months of age is highly effective in helping a child's language, communication and educational development. Your baby's hearing screen will be performed by a Children's Hospital & Medical Center audiologist and is done when the baby is asleep or quiet. Responses to sounds sent through tiny earphones are counted and averaged by a computer. For further details on hearing screens, please read "The Parent's Guide to Your Baby's Newborn Screening."

© Children's Hospital & Medical Center | In Affiliation with University of Nebraska Medical Center College of Medicine