Your baby and every baby born in Alaska.
Testing for some uncommon disorders in body chemistry.
Just before you take your baby home from the hospital or birthing facility.
With a tiny amount of blood from the infant’s heel.
The blood sample is taken in the hospital or birthing facility. Testing is done at the Northwest Screening Laboratory, Oregon Division of Health
To help prevent mental retardation and other life threatening complications. Many birth defects can be effectively treated if they are detected early.
Alaska Law (sec.18.15.200) requires that all babies born in Alaska receive screening tests for PKU and other metabolic disorders that can result in mental retardation and/or other serious health problems. Blood samples for testing must be collected before discharge from the hospital or birthing facility. For infants born “out of hospital”, the person responsible for registering the birth of the child also is responsible for assuring that the proper specimen is collected and submitted no later than the fifth day of life.
Parents have the right to refuse the screening tests for their newborn infant if this testing conflicts with their religious practices or beliefs. If this is true for you, be sure to tell the hospital staff and your doctor as soon as possible; they will have you sign an “informed dissent”.
Currently Alaska screens for the following disorders:
- Hypothyroidism — This occurs when the thyroid gland cannot make enough thyroid hormone. The low levels can cause mental retardation and poor growth. Early treatment results in normal growth of brain and body;
- Phenylketonuria (PKU) — This occurs when the body cannot break down one of the amino acids found in the protein of all foods. If a special diet is started early, brain damage and mental retardation can be completely prevented;
- Galactosemia — This occurs when the body cannot break down a sugar (galactose) in milk. This can cause mental retardation, liver and eye damage, or death. It is treated by milk substitute in the diet;
- Maple Syrup Urine Disease (MSUD) — This occurs when the body cannot break down several of the amino acids in protein. It causes mental retardation, brain damage or death. It is treated with a special diet.
- Biotinidase Deficiency — This is cause by an inability of the body to use biotin, a B vitamin. It causes mental retardation, seizures, skin rashes and hair loss. They can be prevented with a special medication.
- Congenital Adrenal Hyperplasia (CAH) — This is a defect in the formation of a hormone. It can result in abnormal development of the genital organs and very serious illness in the first days of life. Early treatment is life saving.
- Hemoglobinopathies — Includes sickle cell disease and other abnormal hemoglobins.
- Cystic Fibrosis — Screening for Cystic Fibrosis was added to the panel in 2007. Children diagnosed earlier through screening tend to have improved nutritional
status and cognitive development.
Other Metabolic Disorders on the Alaska Screening Panel
In 2002, the Oregon Department of Public Health added a new type of technology- called tandem mass spectrometry, or MS/MS — to enhance newborn screening. MS/MS allows testing for other rare disorders, including some of the amino acid, urea cycle, fatty acid oxidation and organic acid disorders. Babies with these disorders cannot breakdown or remove certain chemicals from their bodies. Without treatment, these chemicals can build up in the baby’s body and cause serious medical and developmental problems. Babies with these disorders must have regular medical care. Alaska began screening all newborns for these additional disorders in 2003.
- Amino Acid and Urea Cycle Disorders — PKU is one of the more familiar of the amino acid disorders. Babies with amino acid and urea cycle disorders cannot properly process amino acids, the building blocks of proteins. Without treatment, the buildup of these chemicals can cause serious medical problems, including damage to vital organs, seizures and coma. Treatment depends on the disorder the baby has, but may include special low protein diets, medical treatments and medications.
- Fatty Acid Oxidation Disorders — Babies with one of these disorders have trouble burning fat for energy. Without treatment, these disorders can lead to serious medical problems, including seizures, liver damage and coma. Treatment depends on the disorder the baby has, but may include specials diets, supplements and medications.
- Organic Acid Disorders — Babies with organic acid disorders cannot remove certain waste products from their blood. Without treatment, the buildup of these waste products causes serious medical problems, including seizures, coma and brain damage. Treatment depends on the disorder the baby has, but may include specials diets, supplements and medications.
The newborn screening team consists of local health care providers including Alaska hospitals, physicians and midwives who collect blood samples after birth, and the program manager and genetics clinic manager employed by WCFH. Since there are no laboratories or metabolic specialists in Alaska who provide specialized services for newborn screening, these services are provided through a contract with the Northwest Regional Newborn Screening Program (Oregon Public Health Laboratory (OPHL) and Oregon Health Sciences University (OHSU) in Portland, Oregon. Metabolic Clinics in Anchorage and Fairbanks provide ongoing evaluation and treatment in management twice a year. Staffs from OPHL and OHSU and the program manager monitor test results to ensure that screening is satisfactorily completed. Infants with abnormal test results are referred for additional testing.
Infants and children with positive test results are seen at Metabolic Clinics in Anchorage or Fairbanks for treatment management. Staffing for the Metabolic Clinic includes a metabolic specialist and a metabolic nutritionist. Medical consultation is provided to the local physician caring for the infant or child. Treatment for metabolic diseases is life long. The Newborn Screening Advisory Committee, composed of local physicians, laboratory personnel, family members of affected children, midwives and nurse practitioners, provides recommendations for program planning and evaluation.