Saint Francis Medical Center's Level III NICU provides newborn screenings (which require a blood sample) to detect potentially serious health disorders that could lead to developmental disabilities, mental retardation or death. Newborn screenings can detect the following conditions:
Amino acid disorders
A screening is needed to check for nine amino acid disorders that prevent infants from breaking down certain waste products from their blood. If left untreated, it can cause poor growth and brain development, abnormalities of the eyes or skin, liver failure, coma or death. Treatment includes special diet and medications.
Carseat trend oximetry
Premature babies may have trouble breathing in carseats. All premature infants need to have their breathing and oxygen levels observed in his/her carseat before going home. This usually takes about 30 minutes.
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia is a condition affecting the adrenal glands that causes infants to produce either too much or too little of certain hormones and results in abnormal physical development. Early detection and treatment are essential in preventing further complications, including death.
Fatty acid oxidation disorders
A screening is needed to check for numerous fatty acid oxidation disorders that hinder infants' ability to burn fat for energy. If left untreated, the disorders can lead to vomiting, low blood sugar, or more serious complications such as coma or death. Treatment varies depending upon the disorder but can include special diet and medications.
Galactosemia is a buildup of galactose (a component of milk sugar) in the blood that can cause liver damage, cataract, mental retardation or death. A special diet will prevent medical problems.
By state law, all infants are required to have their hearing tested before discharge from the nursery after birth. Studies have found that children whose hearing losses are identified in infancy may benefit more from amplification, and may develop language and social skills at the same rate and level as hearing peers.
Hypothyroidism is a decrease in the production of the thyroid hormone that could result in brain damage and mental retardation without prompt, proper treatment.
Organic acid disorders
A screening is needed to check for numerous organic acid disorders that prevent infants from breaking down certain waste products from their blood and can lead to vomiting, low blood sugar or more serious complications such as coma. Treatment varies depending up on the disorder but can include special diet and medications.
Phenylketonuria is a buildup of the amino acid phenylalanine in the blood preventing normal brain development. A special diet begun in the first few weeks of life will prevent mental retardation caused by this disorder.
Premature infants born less than 34 weeks or 1500 grams birth weight need to be examined by a pediatric eye doctor for retinopathy of prematurity (ROP), an eye disease (once called retrolental fibroplasias) that can cause blindness if not found early and treated. Blood vessels in the retina need to be pulled off or detached from the back of the eye. The earlier and sicker the baby is, the more likely they are to have problems. Before the examination, the baby's eyes are dilated with drops and a special camera takes a picture of the retina. Examinations are done periodically until the blood vessels are completely developed and all danger for loss of vision is past (usually around the baby's due date). This may even require eye examinations after the baby has left the hospital.
Sickle cell anemia
Sickle cell anemia is an inherited disease found primarily in African-Americans and people of Mediterranean descent. Red blood cells can change from a normal round shape to a sickle shape and may cause blockage of blood flow to the body's tissues. Although there is no cure, early detection is important for effective treatment and prevention of complications.
If and when any of these disorders are detected, the Missouri Department of Health provides assistance in arranging medical treatment. Early testing and treatment are essential to provide each newborn the best possible beginning to life.