NBSP Mission

To eliminate or reduce mortality, morbidity and disabilities by screening, detection and treatment of the disorders included in the Maine newborn screening panel.

For information please contact:

• Newborn Screening Bloodspot Program
  • Tel: (207) 287-5357
  • TTY: Maine Relay 711
  • Fax: (207) 287-4743

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Announcement

The Maine CDC Newborn Bloodspot Screening Program added four new conditions to our Newborn Screening Panel as of April 1, 2021.

• Pompe Disease (Pompe): Variable ages of onset and rates of progression. Symptoms include generalized muscle weakness, cardiac hypertrophy, respiratory issues, and failure to thrive. Treatment involves enzyme replacement therapy.
• X-Linked Adrenoleukodystrophy (X-ALD): Mainly affects the nervous system and adrenal cortex and has a broad clinical spectrum. It affects primarily males. Treatment involves symptom management, stem cell transplant, and gene therapies.
• Mucopolysaccharidosis Type I (MPS-1): Very rare inherited progressive multi-system disorder with a range of severity. Symptoms include developmental delay, recurrent urinary and respiratory infections, and organ and skeletal abnormalities. Treatment involves symptom management, enzyme replacement therapy, stem cell transplant, and gene therapies.
• Spinal Muscular Atrophy (SMA): Most common of these four conditions (1 in 11,000 births) involving the absence of a gene that produces a protein critical to the function of the nerves that control muscles. It is progressive and can be fatal. Treatment involves gene therapies.

Filter paper fees have increased to $220 each to cover the cost of adding these conditions. These changes are due to the legislative rule (PDF) change.

For more information, contact Anne Watson, Newborn Bloodspot Screening Coordinator at 207-287-8188 or anne.watson@maine.gov.

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Maine State Law - Relating to Newborn Bloodspot Screening

Preventing Handicapping Conditions; Detection of serious conditions
This law requires all newborns to be tested for several rare but serious medical conditions.

Rules and Regulations - Relating to Newborn Bloodspot Screening (Adopted Chapter 283). These rules discuss how the Newborn Bloodspot Program is implemented.

State of Maine Process for Adding Conditions to the Newborn Bloodspot Screening Panel – Adding Conditions to State Newborn Screening Panels describes the process Maine follows when adding newborn screening disorders to its newborn screening panel. This collaborative process relies on the expertise and experience of national and international newborn screening programs, genetics specialists, state health agencies, parents and families, health providers, state policy makers and other stakeholders. The state aims to select disorders that have the greatest potential to protect the health of Maine babies.

The Maine Newborn Bloodspot Screening provides information on some rare disorders of body chemistry. These screening tests may not pick up all newborns with these rare disorders. Even if the results of these screening tests are normal, there may be other medical problems that cannot be detected by these tests. It is important for your baby to have regular check-ups and good medical care. This blood test is only a screen.