Newborn Testing

To ensure the health of newborns, New Jersey recently expanded its statewide system of newborn testing to include a total of 14 disorders, which, if not detected early, can cause severe health problems, mental retardation, or even death. This expansion has placed New Jersey among the nation’s leading states in newborn testing.

Your baby will have blood screenings performed very shortly after birth. Blood is drawn from your baby´s heel and sent to Public Health and Environmental Laboratories, where tests are performed.

Here is information about the disorders for which your infant will be screened.

PKU – Babies born with PKU cannot process a protein called phenylalanine, a product found in most foods. Without treatment, this protein builds up in the blood and causes brain damage and mental retardation. Giving the baby a special formula that is low in phenylalanine can prevent these problems. Throughout his life, the child needs to follow a low-phenylalanine diet.

Congenital Hypothyroidism – This is a thyroid hormone deficiency, which can retard growth and brain development. Babies can be treated with oral doses of thyroid hormone, which allows normal development.

Galactosemia – Babies born with this disorder are unable to change galactose (a sugar found in milk and other dairy products) into glucose, the sugar our bodies use for energy. A build up of galactose can cause blindness, mental retardation, or death. A child with galactosemia must have a diet in which all dairy products are eliminated.

Sickle Cell Anemia- Sickle-cell anemia is caused by a defective gene that produces an abnormal form of hemoglobin, the component of red blood cells responsible for transporting oxygen from the lungs to the tissues. The abnormal hemoglobin, called hemoglobin S, distorts red blood cells. These distorted cells are called sickled cells because they resemble the shape of a sickle. The sickled shape makes it difficult for these cells to pass through tiny blood vessels, resulting in intensely painful blockages that prevent vital oxygen and nutrients in the blood from reaching organs and tissues, impairing their function. Children with this disease are also prone to infection. Early treatment can help decrease the complications of this disorder.

Biotinidase Deficiency – Infants with this disorder cannot process and absorb the vitamin biotin. This deficiency can lead to seizures, hearing loss and delays in development. Regular medical care and lifetime treatment with biotin can prevent these problems.

Congenital Adrenal Hyperplasia - This is a group of disorders in which the adrenal glands do not make normal amounts of certain important hormones. If untreated, serious loses of salt and water, and even death may occur due to disturbed kidney function. Lifelong treatment and close monitoring helps to prevent complications from this disease.

Cystic Fibrosis – Children with this disease experience thick mucus that collects in the lungs and other body organs, resulting in breathing difficulties, lung infections and poor food digestion. These children need frequent medical monitoring, specialized care, and a healthy diet. Early treatment has been shown to improve growth and development.

Maple Syrup Urine Disease (MSUD) – Babies with this disease cannot break down certain components of proteins found in foods, including breast milk and formula. These components, amino acids, build up in the baby’s blood and causes mental retardation or death. The name, Maple Syrup Urine Disease, comes from the distinctive maple syrup odor of an affected baby’s urine. Babies diagnosed with this disorder require lifetime treatment that includes a special diet of foods low in certain proteins and close monitoring.

Fatty Acid Oxidation Disorders - This includes four disorders in which babies have trouble using fat for energy. This can lead to a medical crisis if an infant goes without eating. Lifelong treatment by a doctor and specialist is needed as is a special diet and medication. The four disorders are:

  • Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
  • Short chain acyl-CoA dehydrogenase deficiency (SCAD)
  • Long chain acyl-CoA dehydrogenase deficiency (LCAD)
  • Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)

Urea Cycle Disorders - Babies with these disorders have an excessive amount of ammonia in the blood. If left untreated, these disorders can cause behavioral problems, mental retardation, coma or even death. The two disorders included in this category are:

  • Citrullinemia
  • Argininosuccinic acidemia

Though most of these diseases are rare, it´s important that your baby be screened. With early diagnosis and treatment the outlook is good.

Talk to your child´s healthcare provider if you have any questions or concerns.

Speaker's Bureau

If your club or organization would like to host a presentation on a health topic or issue, please contact our Speaker's Bureau to make arrangements.