Transcript South Dakota Newborn Screening Training

South Dakota Newborn Screening Program
(SDNSP)
From Collection to Follow-Up
South Dakota Codified Law 34-24-17.
 Screening of newborn infants for metabolic
disease. All infants born in the State of South
Dakota shall be screened for metabolic disease.
This screening shall be as prescribed by the
State Department of Health.
The Advisory Committee on Heritable
Disorders in Newborns and Children
 The Committee is charged with advising the
Secretary of the Department of Health and
Human Services in areas relevant to heritable
conditions in newborns and children including
newborn and child screening, counseling, and
health care services for newborns and children
having or at risk for heritable disorders.
 recommended panel is 31 core disorders and
26 secondary disorders
Current Disorders Screened for in South Dakota
PKU (1973)
Congenital Hypothyroidism (1982)
Galactosemia (1991)
Congenital Adrenal Hyperplasia (June 1, 2005)
Biotinidase Deficiency (June 1, 2005)
Hemoglobinopathies (June 1, 2005)
Cystic Fibrosis
 optional June 1, 2005; mandated June 1, 2007
 Amino acid, Organic acid, Fatty acid oxidation
disorders (Tandem Mass Spectrometry)
 mandated June 1, 2005; previously supplemental
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The Next Newborn Screening Test Coming
 Severe Combined Immunodeficiency (SCID)
screening to begin January 1, 2015
 usually causes death in the first year of life
 if SCID is recognized early and treated by
stem cell transplant within the first 3.5
months of life before significant infections,
success rates of 95% are reported
 reported incidence of SCID from states that
have already begun screening is around
1:50,000 infants
 previous estimate of 1:100,000
SCID Screening and Reporting
 Same specimen card already collected
 Involves counting by-products of T-cell production
known as T-cell Excision Circles (TRECs)
 Normal results will appear on the newborn
screening reports routinely sent to the submitter
 Physicians caring for an infant with abnormal
results will be notified and provided further
recommendations
SCID Education
 Multiple education efforts planned for providers
in South Dakota
 submission to South Dakota Medical Journal
 newborn screening brochure revised to
include SCID
 provided to all birthing hospitals and clinics
in the state at no charge
Working Together for the Health of Infants
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State Hygienic Laboratory (SHL)-Newborn
Screening Laboratory at University of Iowa
 centralized contract laboratory since 2007
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University of Iowa Children's Hospital
South Dakota Department of Health
Hospitals and Clinics
Healthcare Providers
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Parents
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Newborn Screening Programs in other states
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Why Screen?
 Collectively about 1 in 700 infants affected
 Conditions are not apparent at birth
 Allows infants to be identified and treated
 before they get sick
 preventing serious health problems
 or even death
Components of Newborn Screening
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Application to the blood spot collection form
Techniques for collection
Filling out the NBS collection form
Transport of specimen
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Specimen Quality/Acceptability
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Specimen Quality
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Based on Standards written by the
Clinical and Laboratory Standards
Institute (formerly NCCLS)
NBS01-A6, Volume 33 No. 9, 2013
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Blood Collection on Filter Paper for
Newborn Screening Programs; Approved
Standard—Sixth Edition
Available from South Dakota Department
of Health
Specimen Quality
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Quality specimen for accurate and timely results
Poor Quality (PQ) specimens MUST be recollected
 as soon as possible
 TSH result is based upon infants 2 weeks of
age or less
Recollection
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Adds trauma to the infant
Causes anxiety to parents
Burdens the screening laboratory
Burdens the collecting facility
Delays testing
 delayed diagnosis
 delayed treatment
Blood Collection Techniques
 Heel stick preferred for highest quality results
 Avoid using capillary tubes
 increases the risk of a clotted/layered specimen
 increases the risk of scratching the filter paper
 Avoid venous collections
 lack of anticoagulant and time delays with syringe
can cause clot formation and separation of the
specimen
 Umbilical catheter collection
 can result in contamination from substances
previously infused through the line
Capillary Tubes….If They Must be Used
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Avoid anticoagulants
 EDTA causes false negatives for TSH & IRT, false
positives for 17-OHP
 Heparin may interfere with PCR analysis for
Cystic Fibrosis testing and TREC analysis for
SCID testing
Capillary Tube Collection
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Apply the blood to the filter paper from each
tube as it is collected
Do not draw or swirl with the capillary tube
onto the filter paper
Avoid pressing capillary tube into the paper
 causes dents or scratches
Unacceptable Collection Sites
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Arch of the foot
Fingers (except for collection on the mother)
Earlobes
Previously punctured or swollen sites
Umbilical cord blood
 maternal contamination
Intravenous lines contaminated with
interfering substances
Heel Stick Method Prep
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Check the expiration date on form
Fill out the form properly and completely
Precautions
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Confirm infant’s identity
 take extra precaution with twins/multiple births
Wash hands
Wear powder free gloves and change between
infants
Follow safety precautions when handling and
disposing of sharps
Site Preparation
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Warm the infant’s heel
 Use heel warming device
or
 Use soft cloth moistened with warm water
(less than 42˚C) for 3-5 minutes
Positioning Foot
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Infant’s leg should be lower than the heart
 increases venous pressure
Wipe heel with 70% isopropyl alcohol
Air dry
Puncture Site
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Puncture WITHIN shaded area
Plantar surface of the heel
Puncture
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Use sterile lancet or heel incision device
1.0 mm deep by 2.5 mm long
No scalpel blades or needles
Direct Application
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Wipe away first drop of blood
 may be contaminated with tissue fluid and this
may interfere with the test
Allow a large drop to form (50-75 µL)
Touch paper to blood ONCE and let soak through
Apply Blood
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Apply ONE drop on a circle
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Apply to ONE SIDE only
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Continue and fill all circles
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Do not press filter paper against puncture site
Take Care of Puncture Site
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Elevate foot above the body
Press sterile gauze or cotton swab against
puncture site until bleeding stops
Do not apply bandages that may damage
infant’s delicate skin
Examine Blood Collection
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Look at both sides of filter paper making sure
blood has soaked through
If blood is not soaking through try again on
another circle
Do not re-apply to same circle
Air Drying the Specimens
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Do not touch other blood spots
Horizontally
Elevate off bench
No direct sunlight
Keep away from direct heat and humidity
 false + biotinidase and galactosemia results
Dry at least 3 hours at ambient temperature
Quality Assurance & You
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After collection of the specimen
 take time to look at it
 determine whether it is acceptable or not
 if not, recollect it at that time
Too Much Blood
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Over-saturated
Insufficient Blood
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Applying drops that are too small
Removing filter paper before blood has soaked
through to the other side
Uneven Saturation
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Insufficient quantity so blood did not
soak through
Spreading the blood drop over the
surface of the circle, contributing to
uneven absorption
Improperly applying blood to the filter
paper with a device
Layering
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Multiple drops added to each circle
Non-uniform concentrations
Analyte concentrations variable by amount of blood
Contamination or Dilution
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Alcohol not dried on infant’s heel
 other fluid/substances
Substances on bench top
Not always this noticeable
May affect analysis
Inadequate Drying
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Putting in envelope before drying
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Folding the flap before dry
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air dry for at least 3 hrs.
Sending with the courier before dry
Serum Separation
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Serum rings
 squeezing or milking the heel causes
hemolysis - use gentle pressure
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RBC have settled in capillary tube
Clotting
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Apply blood from each tube as collected
Don’t delay or hold
Don’t “draw” blood on circles
Filling out the Collection Form
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All requested information must be provided
Missing information may prevent or delay test results
Collection Information
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Age of baby at time of collection
 birth date and time
 collection date and time
Early collection (<24 hrs. old) affects results
 false negatives for amino acids are possible
due to insufficient levels of certain analytes
 false positives for hypothyroidism and CAH
are possible because of the normal hormone
surge after birth
Missing Information
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Early Collection Unknown
 date or time is missing
 no results for CAH, TSH or TMS
Unknown Weight
 CAH results not reported
Transfusion Status
 must be marked no
 not assumed as no if not marked
Transfusion Affects
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Biotinidase-plasma
Cystic Fibrosis-plasma
Galactosemia-RBC
Hemoglobin Disorders-RBC
SCID-can result in false + (abnormally low TRECs)
 no change to transfusion protocol
Always collect prior to a transfusion, even if the
infant is <24 hours of age
 results from an early collection can be combined
with results post transfusion
Submitter Information
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Submitter receives report
 hospital
 clinic
Infant’s physician & telephone number
 needed for follow-up for abnormal results
 if there will be a different physician following
hospital discharge this needs to be included
 examples: Howard Hansen/Kyle IHS
Joe Johnson/EAFB
Quality Assurance
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Daily fax sent from SHL to collecting facility
Need secure fax line
Need a contact person
Fill out info and fax back
Monitoring Newborn Screening Forms
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Storage
 clean dry place in a vertical position
Supply
 availability of forms and expiration date
Filter Paper on Collection Form
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Should NEVER come into contact with
anything other than the infant’s blood
Never let the filter paper touch the bench top
When filling out the form wear gloves and make
sure the flap is closed over the filter paper
Do not crush the form; take care when storing in
charts
 the filter paper may not absorb blood if
crushed
Checking the Form Before Submitting
 Is the form?
 Complete
 Legible
 Accurate
Who Conducts Parent Education?
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Is newborn screening education started
during the prenatal period?
Does the nursery or obstetrician provide
parents with the NBS pamphlet?
Who Performs Heel Sticks?
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Are they properly trained in the collection procedure
on filter paper?
Are they able to describe a satisfactory specimen?
Are they able to describe a poor quality specimen?
Are poor quality specimens tracked back to the
individual who collected them and retrained as
needed?
Are they using correct terminology - “newborn
screening test” instead of calling it the “PKU test”?
Who Sends the Specimens?
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Are specimens checked for suitable quality prior to
sending with the courier?
Are all specimens sent within 24 hours of collection
using the courier system?
Are steps taken to avoid subjecting the specimens to
heat and humidity prior to sending?
Does someone review the demographic information
prior to sending to make sure the form is complete
and legible?
Does Your Facility have Adequate and
Accurate Newborn Screening Documentation?
 Is there a log in the nursery or lab documenting
each newborn’s date and time of birth and blood
collection?
 SDNSP may need to confirm a specimen was
an early collection and not just an incorrect
date or time of collection
 Does your facility track the specimens until the
results are received?
Is Your Facility Providing Adequate and Accurate
Newborn Screening Documentation?
 Is there someone at your facility to track poor
quality specimens?
 Is there documentation indicating the
physician or parents were notified of the need
to repeat the newborn screen?
 Does your facility have a system set up to
guarantee that all newborns are screened prior
to discharge?
 Is there a system in place to ensure infants
discharged prior to 24 hours of age have an
initial specimen collected?
Reporting Abnormal Results
 State Hygienic Laboratory notifies a Case
Manager at University of Iowa Children’s Hospital
 all abnormal results are reported to the
healthcare provider listed on the collection card
with recommendations for
 rescreening and/or
 confirmatory testing
 SDNSP takes over after the initial notification
 Medical Consultants review the confirmatory tests
and provide additional recommendations
Ensuring All Infants are Screened
 EVRSS (Electronic Vital Records Screening
System)
 statewide electronic birth certificate filing
system used since 2002 that incorporates web
technology
 each hospital in the state enters birth certificate
information directly into this database
Ensuring All Infants are Screened
 the collection card has peel-off stickers that
are placed on the form that Vital Records uses
at the hospital level to file the birth certificate
 this sticker is the metabolic unique
identifier number to eventually match the
birth certificate to the newborn screening
results
 SHL sends an electronic file with the newborn
screening results
 loaded into the EVRSS system Monday
through Friday
Ensuring All Infants are Screened
 A Department of Health staff loads the
electronic record received from SHL and
performs a match process function with EVRSS
 match process is designed to match the
initial specimen as well repeats
 Never Tested Report ensures all babies are
screened
 picks up home births, refusals, poor quality,
transferred or discharged without a newborn
screen, and deceased
Ensuring All Infants are Screened
 in South Dakota, birth certificates are filed
within 7 days
 lab analysis and reporting out of results
averages about 5.5 days
 can pick up a baby as soon as 7 days of
age as a possible Never Tested baby
 Unmatched Report for metabolic results but
no birth certificate
 out-of-state births
 state program to state program
coordination to ensure the follow-up
Reporting Test Results
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Reporting options
 paper reports delivered by USPS
 web access and paper report
 web based only – paperless
For Additional Information
 Call the South Dakota Department of Health
Newborn Screening Program at 1-800-738-2301
 Visit the South Dakota Department of Health
Newborn Screening Program homepage for links
to additional resources:
doh.sd.gov/family/newborn/metabolic/
Video link
http://www.pkulife.tv/
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