Michigan
Newborn Screening Laboratory updates
Michigan Newborn
Screening Pilot Study updates (Eleanor Stanley, Karen Andruszewski,
Bill Young, PhD, Harry Hawkins and Kevin Cavanagh, PhD)
The pilot study
for expanded newborn screening with tandem mass spectrometry was
started on April 18, 2005 and remains in effect without additional
funding. With this pilot study startup, the number of conditions
screened for increased to 40.
These 40
conditions including hearing screening were described for newborn
screening programs in the American College of Medical Genetics
report to the US Department of Health and Human Services (http://mchb.hrsa.gov/screening). In
this report, cystic fibrosis screening was also recommended along
with a comprehensive system to assure that infants with abnormal
test results receive proper follow-up and have access to appropriate
preventative interventions. No federal funding has been associated
with these guidelines.
As of December
14, 2005, 7 confirmed cases were observed in Michigan for the pilot
study and these conditions are listed below. In all 7 cases, the
infants are doing well following treatment under the care of
Children’s Hospital of Michigan Metabolic Clinic. A single case of
maternal 3-methylcrotonyl-CoA-carboxylase deficiency (3MCC) has also
been confirmed.
|
Pilot Project Confirmed Cases |
|
|
Disorder |
Birth
Hospital |
|
Carnitine
Transport Defect |
Spectrum |
|
|
|
|
SCAD (Mild
Variant) |
Providence |
|
|
|
|
VLCAD (Mild
Variant or Late Onset) |
Oakwood |
|
|
|
|
VLCAD (Mild
Variant or Late Onset) |
Battle
Creek Health System |
|
|
|
|
VLCAD |
Spectrum |
|
|
|
|
2-Methylbutyryl Co-A Dehydrogenase Deficiency |
Munson
Medical Center |
|
|
|
|
Propionic
Acidemia |
Home
Birth |
For 105 cases
during this time period, an atypical pattern was observed that
required repeat dried blood spot (DBS) testing or some additional
testing to determine if the profile was returning to a normal
pattern or required some additional testing and/or follow-up.
At the National
Newborn Screening Meeting in Portland, Oregon, Oct 24-27, 2005, two
papers from the Michigan Newborn Screening (NBS) Program were
presented.
Dr. Bill Young
presented: Evaluation of the Screening Algorithm for MAPLE SYRUP
URINE DISEASE in Michigan. Co-authors were: Karen Andruszewski,
Denise Pleger, Caron Burns, Eleanor Stanley, Harry Hawkins, Kevin
Cavanagh, Robert Grier, Ayesha Ahmad.
Dr. Bob Grier
presented: Age-Related Cutoffs for Newborn Screening by Tandem Mass
Spectrometry. Co-authors were: Caron Burns, Eleanor Stanley, Pat
Garrod, Harry Hawkins, Kevin Cavanagh and William Young.
.
In a related
matter, Senate Bill 794 has been introduced by Senator Tom George,
(R-Kalamazoo) which establishes for a Quality Assurance Advisory
Committee to be established to review the standard of care for
newborn screening programs and to make recommendations on the
Michigan NBS test menu and fee structure. This bill has been
unanimously approved in the Senate and is now being taken up by the
Michigan House in early 2006.
For questions on
the Newborn Screening Program, please contact the NBS Office at
335-9205.
