Newborn screening tests are used to screen an infant for certain conditions or disorders that may not be obvious at birth. With a few simple tests doctors can often tell whether newborns have certain conditions that could eventually cause problems. These conditions are rare, but when they do occur, early diagnosis and proper treatment can make the difference between impairment and normal development.
Connecticut law mandates that all newborns be tested for eight rare but serious conditions. Many of these conditions can be treated successfully through medicine and/or diet. This screening is performed before the baby goes home or by the 4th day after birth. Blood is drawn from the newborn’s heel and sent to the state for analysis of metabolic (biochemical) abnormalities. Results are mailed to the baby’s pediatrician. The test screens for the following disorders:
- Biotinidase Deficiency. With this condition, the body cannot make enough free biotin, a complex vitamin. Taking this vitamin daily helps to prevent severe skin rashes, eyesight and hearing problems, and brain damage.
- Congenital Adrenal Hyperplasia. With this condition, the body cannot make enough of certain hormones. Taking the missing hormones helps to prevent severe illness or death.
- Congenital Hypothyroidism. This condition is caused by a lack of thyroid hormone. Taking the missing hormone helps to prevent slow growth and mental retardation.
- Galactosemia. With this condition, the body cannot use a sugar found in milk, infant formula, breast milk, and other foods. A special diet helps prevent damage to the brain, eyes and liver.
- Hemoglobinopathies. These conditions cause problems with red blood cells and can lead to anemia, infections, pain, slow growth and even death. Special medical care and penicillin help to prevent these problems.
- Amino Acid Disorders. Babies with one of these disorders cannot break down certain amino acids. The amino acids build up in the urine or blood. Amino acids are found in foods like meat, milk, baby formulas, and breast milk. Special diets, vitamins, and special medicines help to prevent serious problems.
- Fatty Acid Oxidation Disorders (FAOD). Babies with one of these disorders are missing an enzyme needed to turn fat into energy. Treatment depends on the disorder a baby has but may include avoiding fasting, a special low fat diet, and a medicine called carnitine.
- Organic Aciduria Disorders (OA). Babies with one of these disorders cannot use certain amino acids and fatty acids. Treatment may include a special low protein diet and/or medication. Propionic Acidemia (PPA) is an example of an organic aciduria disorder.
PKU testing is used to detect an inherited disease that stops the body from metabolizing a protein called phenylalanine. This is a condition that can be corrected by diet. The state mandates that the test be done at two and fourteen days of age. The first test will be done in the hospital, and the second at your pediatrician's office.
A newborn hearing test is required by Connecticut law and performed before the baby leaves the hospital. Early detection is essential to address hearing defects and hearing loss. This is especially important because most language-based development takes place during the first few years of life.
Transcutaneous Bilirubin Test.
This test uses a sensitive light meter placed on top of the baby's skin. It determines if the baby has jaundice and, if so, whether the level of jaundice is sufficient to require treatment.
Hepatitis B Vaccine
Hepatitis B is an inflammation of the liver caused by the Hepatitis B Virus. The virus can be transmitted at birth from a mother to a baby. Greenwich Hospital, in compliance with the State of Connecticut, offers the first dose of the three-part Hepatitis B vaccine series. The FIRST DOSE, and only the first dose, is given at no charge to ALL INFANTS during their hospital stay. The Hepatitis B vaccine is safe and effective. The two subsequent doses will be administered by your pediatric healthcare provider at appropriate intervals for maximum effect.
If your child’s pediatrician is not affiliated with Greenwich Hospital, please bring this physician’s contact information with you to the hospital. We will need the pediatrician’s name, address and telephone number so your child’s newborn screening results can be sent to the proper office.