Public Health & Safety Division             

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).

METABOLIC (BLOODSPOT) SCREEN

  • 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.


UNHSI update

Screening "Stars" for calendar year 2008

State Law about Hearing Screening and Intervention Program

Audiologists who perfom Pediatric Audiological Assessments

30-second TV spot

Montana Guidelines for Newborn Hearing Screening and Pediatric Assessment


On-line Newborn Hearing Screening Training for Hospital Staff

Screening training is now available on-line!  The National Center for Hearing Assessment and Management (NCHAM) has a streaming video with sound on its web-site that provides training in eight (8) sections, each of which lasts between 5 and 13 minutes.  The total time to view the sections takes about 70 minutes.  It covers all of the critical information important for conducting high quality and efficient newborn hearing screening.  There is a brief self-test at the end of each section to help you determine if you understood the material.   If you have any questions about the training, please contact Sib Clack as shown below.   Here is the connection to NCHAM’s on-line training: http://www.infanthearing.org/nhstc_dvd/streaming.html

For additional information contact

Sib Clack, Manager
Newborn Hearing Screening/Assessment Monitor
Family and Community Health Bureau
sclack@mt.gov
(406)444-1216