Montana’s Expanded Newborn Screening Programs
As of January 2008, Montana screens all newborns with: (1) a metabolic screen (bloodspot test) for the 28 conditions recommended by the American Academy of Pediatrics and the American College of Medical Genetics; and (2) a hearing screen (the 29th screened condition).
- Most babies are healthy when they are born. Montana tests all babies because a few babies look healthy but have rare health problems. If we find these problems early, we can help prevent serious outcomes like mental retardation or death.
- A few drops (1/8 tsp) of blood are safely collected from the baby’s heel on a special card, usually 1 or 2 days after birth. The Montana Public Health Laboratory receives the blood cards, has the testing done, and reports the results.
- Approximately 12,500 babies were born in Montana in 2008. Seventeen babies (1 in 735) were treated for a condition detected by the newborn bloodspot screen.
- The newborn screen may need to be repeated if the bloodspot sample was not adequate to complete testing, or if the first test suggested a possible health problem.
- Follow-up services for babies with conditions detected by newborn screening are provided under a contract administered by Montana’s Children’s Special Health Services (CSHS). This includes support for regional pediatric specialty clinics, such as metabolic clinics.
- Montana screens for
- Amino acid metabolism disorders, including Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Homocystinuria (HCY), Citrullinemia/ Arginosuccinic Acidemia (CIT/ASA) and Tyrosinemia Type I (TYR1). These disorders occur in 1 in 10,000 to less than 1 in 100,000 births.
- Organic acidemia disorders, including 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG), 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC), β-ketothiolase deficiency (BKT), Glutaric acidemia type I (GA1), Isovaleric acidemia (IVA), Methylmalonic acidemia (MUT and CblA,B), Multiple carboxylase deficiency (MCD), Propionic acidemia (PROP). These disorders occur in about 1 in 50,000 births overall.
- Fatty acid oxidation disorders, including Carnitine uptake defect (CUD), Medium-chain acyl-CoA dehydrogenase deficiency (MCAD), Long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD), Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD), and Trifunctional protein deficiency (TFP). These disorders occur in about 1 in 10,000 births overall.
- Congenital hypothyroidism (CH), which occurs in about 1 in 3000 births.
- Congenital adrenal hyperplasia (CAH), which occurs in about 1 in 12,000 births.
- Cystic fibrosis (CF), which occurs in about 1 in 2500 births to those of European ancestry.
- Hemoglobin disorders, including Sickle cell anemia (HbSS), Hemoglobin SC disease (HbSC), and Hemoglobin S/β-thalassemia (HbS/βth). Sickle cell anemia occurs in about 1 in 400 births to those of African ancestry, and about 1 in 10,000 Montana births.
- Galactosemia (GALT), which occurs in about 1 in 60,000 births.
- Biotinidase deficiency (BIOT), which occurs in about 1 in 60,000 births.
Montana’s Newborn Screening Brochure for Parents (pdf)
Parents’ fact sheets for disorders detected by newborn screening
[Screening, Technology And Research in Genetics (STAR-G) Project]
National Library of Medicine Newborn Screening Information
Montana CSHS Pediatric Specialty Clinic Information
Newborn Screening Tests and Charges
Montana Public Health Laboratory Newborn Screening
Montana Administrative Rules for Newborn Screening
Montana Newborn Screening Laws
For additional information contact:
Linda Beischel, Newborn Screening Coordinator
Laboratory Services Bureau
406-444-0984
lbeischel@mt.gov
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 links.
Screening "Stars" for calendar year 2008State Law about Hearing Screening and Intervention Program
Audiologists who perfom Pediatric Audiological Assessments
For additional information contact
Sib Clack, Manager
Newborn Hearing Screening/Assessment Monitor
Family and Community Health Bureau
sclack@mt.gov
(406)444-1216
