Beyond PKU:
Transforming the
Newborn Screening Partnership
Beth-Ann Bloom, M.S.,CGC
minnesota newborn screening program
It All Started with PKU
o Dr. Robert Guthrie, the
father of newborn
screening
o Screening done on filter
paper
o Universal for over 40
years
o Public Health function
because of population
based impact
Newborn Screening Changes Lives
Before Transformation
o Newborns were only screened for
Phenylketonuria (PKU)
o 1/10,000 babies affected
o Expect 7 affected infants annually in
Minnesota
o Average of one case every 52 days
After Transformation
o MDH identifies a baby affected with
one of 54 disorders every day
o Most do not have a positive family
history
o Many are asymptomatic
o Disorders can cause mental retardation
and death quickly
o All diseases on the screening panel are
treatable
Newborn Screening
o An essential
part of infant
health
maintenance
in a hospital
and primary
care setting
Positive Results Found Statewide
Minnesota Mandates Testing for
54 Disorders
o Standard of care
holds all providers
responsible for the
screening of each
baby in their care
and awareness of
the screening
results
Testing Newborn Blood
Partnership between MDH,
Mayo Labs, and Minnesota’s
hospitals
Impossible Without These Hospitals
24-48 hours after birth,
heel-stick performed
o Less than .5mL collected on
specimen card
o Same volume before and after
transformation
Dried Bloodspots Allow
High-Throughput Testing
Testing Done at MDH
o Galactosemia
o Congenital adrenal
hyperplasia
o Congenital
hypothyroidism
o Sickle cell disease
o Biotinidase deficiency
o Cystic Fibrosis
Testing Done at Mayo by MS/MS
o One test detects metabolic disorders of
amino acids, organic acids, and fatty
acids
Galactosemia
o Can be fatal in 1st
week
o Coagulopathy,
sepsis, severe
jaundice
o Developmental
delay
o Treated by
eliminating milk
products from the
diet
Congenital Hypothyroidism
o Developmental
delay
o Growth problems
o Jaundice
o Before early
identification it
was the most
common cause of
mental retardation
in Minnesota
Before treatment
After treatment
Biotinidase Deficiency
o Seizures
o Developmental
delay
o Progressive
hearing loss
o Treated with
vitamin
supplementation
Cystic Fibrosis
o Added to screening
panel in March
2006
o Early detection
improves growth
and allows for
earlier treatment
Amino Acid Disorders
o 14 different
disorders detected
with one test
o Treated with
dietary restrictions
Fatty Acid Oxidation Disorders
o 13 different
disorders detected
with one test
o MCAD- Medium
Chain Acyl CoA
Dehydrogenase
Deficiency
o Difficulty storing
energy causes
sudden death-SIDS
Hearing Screening
o Goal is to identify
hearing loss in the
frequencies where
speech is heard
o Computerized
testing can be
done in every
nursery
Early Identification Leads to
o
o
o
o
Evaluation
Education
Amplification
Better Speech and
Language
Development
After Transformation
Call It Newborn Screening, Please
PKU Test
Before Transformation
o All “PKU slips” were
mailed to MDH
o All reports were mailed
back to the hospitals
o Delays were built into
the system
o Affected children were
treated at 1 month of
age
After Transformation
o MDH pays for UPS
Next Day Delivery
from all hospitals
in Greater
Minnesota to St
Paul
o Deliveries
accepted 6 days
per week and on
most holidays
After Transformation
All Abnormal Results
o Immediately reported
by phone by MDH
geneticists to baby’s
physician or clinic
staff
Phone Call Provides Clinician with
o “Just in time”
training about a
rare disorder
o Confidence to
approach patient
and parents
o Resources
Information Also Faxed
F
r
P
r
o
rs
e
d
i
ov
And
For
Fam
ilies
Primary Care Providers are
Connected to Specialists
o Consultants with expertise in these rare
disorders can help providers determine
o Is immediate treatment needed?
o What diagnostic testing is required?
o Can it be done locally or is referral
necessary?
Newborn Screening Requires
Follow-up
All screening tests
identify some normal
babies as abnormal in
order not to miss the
babies who do have
the disease. Newborn
screening has a high
false positive rate by
design.
Before Transformation All FollowUp was Done by Clinicians
o Screens were missed
o Mailed results didn’t
reach the treating
clinician
o Screening approaches
to NICU babies were
very confusing
Now MDH Shares Responsibility for
Follow-Up
o MDH contacts hospitals
when babies are
unscreened
o MDH staff call specialists
and primary care to
document that screening
recommendations were
followed
o NICU protocol
implemented to effectively
screen high-risk
newborns
Before Transformation
o Newborn Screening was mandated
o Parents could be charged with
medical neglect for refusing screens
Now Parents Can Opt Out
Parents have the right to make an informed
decision not to have their baby screened
o Must record request on form, releasing
hospital and MDH from liability if their child
is damaged or dies due to an identifiable,
treatable condition. Forms on MDH website.
Educating Parents Is Essential
o Primary care
providers, nursing
staff, and
laboratorians
provide most of
the education to
parents about
newborn
screening
Before Transformation
o MDH provided few
resources
MDH Now Provides Multiple Printed
Resources
o Parent
brochure
provided with
every
newborn
screening
card
o Hospital and
clinic
updates
o Professional
Manuals
All Material with the Same “Brand”
o Designed to be
recognized
o Familiarity builds
credibility
o Family friendly
format, language,
and images
www.health.state.mn.us/newbornscreening
Material Developed for Special
Populations
Culturally appropriate
brochure for
Amish families
Up-coming section
on web site
for planned home births
Transformation and Growth Continue
o More disorders likely
to be added to
screening panel
o Communications wish
list includes
translated material
and audio on web site
o Improved outreach to
special populations
and families with
affected children
Newborn Screening Changes Lives
Every Day
o Meet Ella and Zac who live in a town
so small that the stoplight was
removed
Contact the Newborn Screening
Program at:
601 North Robert St
St Paul, MN 55155
Phone 651-201-5466
or 1-800-664-7772
Fax 651-201-5471
www.health.state.mn.us/newbornscreening
[email protected]