Newborn Screening

 

Saint Francis Medical Center's Family BirthPlace provides newborn screening (which require a blood sample) to detect potentially serious health disorders that could lead to developmental disabilities, mental retardation or death. Newborn screening can detect the following conditions:

Phenylketonuria
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.
Hypothyroidism
Hypothyroidism is a decrease in the production of the thyroid hormone that could result in brain damage and mental retardation without prompt, proper treatment.
Galactosemia
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.
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.
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.
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.
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.
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.

  

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.

 

For more information on Saint Francis' Family BirthPlace, call 877-231-BABY or e-mail sfmc@sfmc.net.