Montana Newborn Screening
Montana Newborn Screening includes two types of screening: (1) heelstick blood tests for several inborn errors of metabolism including phenylketonuria (PKU), galactosemia, and congenital hypothyroidism, and hemoglobinopathies; and (2) hearing screening.
HEELSTICK TESTS
These tests are performed on dried blood samples obtained by a heel stick on the infant. Drops of blood from the infant's heel are collected on a special paper blotter and allowed to dry before being sent to the testing laboratory.
Babies born with any of the four conditions tested appear completely normal. The tests look for disorders which usually only develop after the baby has been feeding for 2 to 3 days. Missing one of these disorders is so serious that it is better that the tests are done too early than not done at all. With the advent of early discharge from hospitals after birth, many hospitals and physicians automatically request two samples on every infant. (Two samples on each infant are endorsed by the American Academy of Pediatrics.)
Phenylketonuria
PKU is the result of a genetic defect in the metabolism of phenylalanine. The incidence is approximately 1:10-15,000 Caucasian births. This amino acid is found in the proteins of many foods. The defect causes nerve and brain cell damage that results in mental retardation. Early detection of this abnormality facilitates initiation of dietary control and prevention of severe mental retardation.
Galactosemia
Galactosemia is an elevation of blood galactose levels. This occurs when the body cannot metabolize the sugar, galactose that is the breakdown product of lactose metabolism. Galactosemia has an incidence of approximately 1:40-60,000 births. Any of 3 enzymes may be absent in the metabolism because of a genetic defect. When galactosemia is not detected and treated early, liver damage, cataracts, retinal hemorrhage, mental retardation, and even death can result.
Congenital Hypothyroidism
Congenital hypothyroidism is one of the most common conditions detected by newborn screening, with an incidence of 1:4,000 births. Congenital hypothyroidism is caused by inadequate production of thyroid hormone that is important for normal function of all body organs and is essential for normal brain development. Deficiency of the thyroid hormone causes mental retardation if it is not diagnosed and treated very early in life. Most infants with congenital hypothyroidism appear clinically normal until 3 months of age. By this time, brain development may be impaired since half of the human postnatal brain growth is complete by 6 months of age.
Hemoglobinopathies
Hemoglobinopathies, including sickle cell disease, are disorders caused by abnormal red blood cells and occur in 1 out of every 375 African-American births, which is an incidence of about 1 in 1000 births in Montana. Children with hemoglobinopathies have frequent infections, growth problems, anemia and recurring episodes of pain.
More tests are available to Montana's families than those required by law. Through an agreement between the Montana Public Health Laboratory and the Wisconsin Newborn Screening Laboratory, Montana infants can also be screened for Congenital Adrenal Hypoplasia (CAH), Biotinidase deficiency, 7 Fatty Acid Oxidation disorders, including Medium Chain Acyl-CoA Dehydrogenase deficiency (MCAD) , 7 Organic Acidemias, Maple Syrup Urine Disease and others. Though these optional tests are available for an additional charge to the family, the price outweighs the lifelong medical costs of disability if the disorder is diagnosed early. Parents can request their physicians to order these tests. (You can access a listing of the mandatory and optional tests available through the Montana Public Health Laboratory and a guideline for test collection through the links shown below.)
Newborn Screening Guide to Test Ordering
Newborn Screening Guide to Test Collection
NEWBORN HEARING SCREENING AND ASSESSMENT MONITORING
Newborns in Montana are also screened by birthing facilities to detect hearing loss. Testing takes about 5 to 10 minutes and can be done while the baby is asleep or lying still. If the newborn does not pass the first hearing screening, another screen is performed. If this screening is not passed, the screening facility informs the parent and the baby's primary care provider that an audiologic assessment is recommended before the baby is three months of age. Because the early months of life are so important to the development of language, it is critical that an infant with a hearing loss be diagnosed before four months of age so appropriate intervention can be provided before six months of age.
To learn more about the Universal Newborn Hearing Screening and Intervention (UNHSI) program in Montana, click on the following link.
Task Force members
2006 Task Force Recommendations for UNHSI
State Law about Hearing Screening and Intervention Program
Audiologists who perfom Pediatric Audiological Assessments
For additional information contact
Sib Clack, Manager
Birth Defects Registry
Newborn Screenings Monitor
Family and Community Health Bureau
sclack@mt.gov
(406)444-1216
