Newborn Screening:
Because you touch the future everyday
Purpose of Newborn Screening
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Screens for congenital and heritable disorders
These disorders may cause severe mental
retardation, illness, or death if not treated
early in life
If treated, infants may live relatively normal
lives
Results in savings in medical costs over time
If Untreated, Disorders
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Can result in:
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Growth problems
Developmental delays
Behavioral/emotional problems
Deafness or blindness
Retardation
Seizures
Coma, sometimes leading to death
Texas Newborn Screening Facts
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Texas has been screening newborns since late 1963,
pilot & beta testing done. It was required by law in
1965.
PKU was first test available by using dried blood
spot. Texas now tests for 27 disorders.
All disorders are autosomal recessive disorders
except Congenital Hypothyroid.
CH has higher incidence in Hispanic females.
Nationwide rate 1: 3,500; Texas rate 1:1,800
Texas Facts Continued
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Texas is 1 of 8 states currently requiring 2
NBS tests. Many states recommend 2nd NBS.
NBS Program identifies about 10% of
diagnosed cases on 2nd NBS.
DSHS Lab processes 3000- 3.500 specimens
per day.
Changes in NBS Program
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Lab and Case Management have gone to 6
day work week. Only “Panic Codes” will be
called out on Saturdays
DSHS Regional staff increased to assist in
locating hard to find infants and referring to
additional programs
Lab using mailbox to speed up delivery of
specimens
Abnormal/Normal Results
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Normal results: Mailer will be sent out by
regular postal service. Typically received in
submitting facility in 10 working days
Abnormal results: Health care provider
notified as soon as result is available and
provider is located.
Web Based system: NBS results available
online when NBS completed-approx. 5
working days after receipt of specimen.
Abnormal Specimen
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Case Management will send:
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Lab results for that disorder
ACT sheet specific to that disorder
FACT sheet for families
List of Specialists
Abnormal Results
for each disorder
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Panic Codes
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are reported to RN in NBS Case Management
RN will notify MD ASAP. If MD unavailable RN
will notify mother
Abnormal Codes
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Health Tech will notify MD or facility
Mother notified by letter
Estimated Expansion Statistics
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Approximately 412,000 births a year
Approximately 800,000 specimens a year
collected
Follow-up on approximately 15,000 abnormal
screens a year
Approximately 620 diagnosed cases per year
Program will also identify about 300
secondary target disorders.
Sickle Cell Trait
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Newborn Screening Program began notifying
parents of Sickle Cell Trait in December
2007.
Program will identify approximately 10,000
infants with Sickle Cell Trait per year.
Significance of Trait may need to be
explained to parent.
Things Parents Should Know after
Abnormal Screen
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This is a screen. There are presumptive positives &
false negatives
The newborn screen is designed to detect babies at
risk before they have signs and symptoms
Early detection and treatment results in prevention of
irreversible complications
There is often no family history. Siblings may not
have history of any screened disorders
Criteria for screened disorders
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Disorder occurs with significant frequency
Test are inexpensive and reliable
Effective treatment/intervention exists
If untreated, baby may die or develop severe
retardation
Affected baby may appear normal at birth
American College of Medical Genetics
guidelines
Texas babies are mandated to have
2 newborn screens
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The first screen at 24-48 hours or before
leaving hospital, whichever is first
The second screen at 1-2 weeks of age
Premature and low weight babies are required
to have screens in same time frame
Take first screen before transfusion
This tear off sheet goes to parent:
To remind them to get #2 screen
To give to pediatrician
Doctor will be able to call into Lab’s
Voice Response System or online data
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system to access results of 1st screen.
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Forms ask for (in military
time):
• Time of birth
• Time of collection
Circle #3 if any previous screen was abnormal.
Enter DSHS Lab # if possible.
No additional blood
spots required.
MEDICAID vs PAID
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Use Medicaid Collection Card if:
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Mother is on Medicaid
Medicaid is pending
Charity
You do not know if mother is on Medicaid
“UNSAT”: THE
TOP 5
#5
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Do not use Expired Forms
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Check Form Serial #
Rotate stock
Order new forms before old forms expire
Destroy expired MEDICAID forms
Send expired PAID forms back to DSHS lab for
credit
WILL NOT BE ABLE TO ACCEPT WRONG
YEAR ON CARD
#4
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Avoid Contaminants
Waste first drop of blood
Do not touch filter paper
Dry flat 3-4 hours
Do not put in plastic bag
Common Contaminants
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EDTA
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Do not use purple capped tubes
Be careful of hand lotion
Fingerprints will leave amino acids
Alcohol
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Wipe dry after cleaning
#3
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Mail specimen within 24 hours
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Do Not Batch
Eliminate unnecessary Stops
If someone is on vacation- assign to someone else
#2
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Date of Collection
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Specimen cannot be processed without date of
collection
Do not punch or cover up barcodes
Date of Birth/time of birth
Other Demographic information is Important
Mother’s name, address
good phone # for to call if abnormal
Get MD’s name if possible
#1
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Get a good Blood Spot!
Use proper lancet: approx 2.0mm
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Must soak through to other side of filter paper
Get a good blood spot before moving onto the
next spot
Do not scratch or abrade paper
Call the Lab for questions or problems
Newborn Hearing Screening
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Hearing screening program
Performed at birth facilities
Follow up by audiologists
Referred to Early Childhood Intervention
if hearing loss is found
About 3 babies per 1000 are born with
hearing loss
Resources Available for Parents
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Newborn Screening Pamphlets may be
ordered online. Available in English, Spanish
& Vietnamese and are provided free of
charge. Please call or e-mail NBS Program if
other language is needed.
March of Dimes Video available in English
and Spanish.
NBS Website.
Resources for Providers
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NBS Pamphlets
Collection and Newborn Screening Program Video
Collection posters
NBS Newsletter
NBS website
Power Point presentations on Collection
Online Provider Education
On-site In-Services
http://www.dshs.state.tx.us/newborn/default.shtm
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