Indiana State Dept. of
Health- Newborn Screening
Refreshers, Best Practices, and
Program Updates
Mission of ISDH Newborn
Screening Program
• Ensure that every newborn in Indiana receives
state-mandated screening for all designated
genetic conditions
• Maintain a centralized program to ensure that
infants who test positive for screened
condition(s) receive appropriate diagnosis and
treatment and that their parents receive genetic
counseling
• Promote genetic services, public
awareness, and education concerning
genetic conditions
Goals of Presentation
• Increase education for facilities to ensure that babies
born in Indiana are receiving care that aligns with
ISDH Newborn Screening Program’s mission
• Inform facilities of changes that have been made
within NBS
• Decrease the number of repeat newborn screens
• Increase the turnaround time for newborn screening
results
• Decrease the number of babies lost to follow-up
• Increase reporting and communication with facilities
and Newborn Screening Program
REMINDERS AND BEST
PRACTICES IN NEWBORN
SCREENING
Why Do Newborn Screening?
• Required by law (Indiana Code 16-14-17)
• Early detection & treatment of newborn
screening disorders
– Lessens severity
– Improves quality and quantity of life years
• Lack of early detection & treatment can
lead to:
– Severe intellectual disability
– Inadequate growth & development
– Death
Birthing Facility’s Role
Entity
Role(s) in the Heelstick Process
ISDH
•
•
•
Birthing Facility
•
•
•
•
Ensure that mandated newborn
screening (NBS) is properly conducted
Ensure appropriate diagnosis
management of affected newborns
Designate & contract with NBS Lab
Alert parents about NBS
Conduct Newborn Screening
If family refuses NBS based on religious
reasons, have parent(s) sign religious
waiver & submit religious waiver to
ISDH
Notify ISDH (through INSTEP monthly
summary reports) if an infant has not
received a screen
Newborn Screening Log
• All birthing facilities and midwives should
maintain a newborn screening log that
documents the following info for all infants:
– Specimen collection date
– Specimen submission date
– Date NBS results were received
– Results of NBS
Introduction to Indiana’s
Newborn Screening Process
• Three parts:
– Heelstick
– Pulse Oximetry
– Universal Newborn
Hearing Screen
Heelstick Screening
• Performed on a blood specimen taken
from the heel of an infant shortly after birth
• Used to screen for certain genetic
conditions
–
–
–
–
Metabolic conditions
Endocrine conditions
Cystic fibrosis
Hemoglobinopathies
Heelstick Procedure
• Equipment:
– Sterile lancet with tip
approximately 2.0mm
– Sterile alcohol prep
–
–
–
–
Sterile gauze pads
Soft cloth
Blood spot card
Gloves
NBS Dried Blood Spot Card
(Front)
NBS Dried Blood Spot Card
(Back)
Heelstick Procedure
• Complete ALL information on NBS card
• Do NOT contaminate filter paper circles:
– Do NOT touch circles before or after blood
collection
– Do NOT allow circles to come into contact
with spills
Heelstick Procedure
(Modified from the heelstick procedures slides provided by the New York State
Department of Health)
•
Hatched areas indicate safe
areas for puncture site
•
•
•
•
•
Best Practice Suggestion:
Warm site with soft cloth moistened with
warm water (up to 41o C) for 3-5min
Cleanse site with alcohol
prep
Wipe DRY with sterile
gauze pad
Puncture heel
Wipe away first blood drop
with sterile gauze pad
Allow another LARGE
blood drop to form
Heelstick Procedure
• Lightly touch filter paper to
LARGE blood drop
• Allow blood to soak through
and completely fill circle with
SINGLE application of
LARGE blood drop
• To enhance blood flow,
VERY GENTLY apply
intermittent pressure to area
surrounding the puncture
site
• Apply blood to one side of
the filter paper only
• Fill all 5 circles
• Let dry 4 hours before
mailing
• Apply care to puncture spot
Valid Heelstick Specimens
• Newborn is >48 hrs of age
• Newborn has been fed protein for
>24hrs
• Fill all required circles
• Allow blood to soak through to
other side of filter paper
• Do not layer successive drops of
blood
• Avoid touching or smearing spots
• Allow specimen to dry for 4hrs
Invalid: Specimen Quantity
Insufficient for Testing
• Possible causes:
– Removing filter paper before blood has completely
filled circle or has soaked through to second side
– Applying blood to filter paper w/ capillary tube
– Touching filter paper before/after blood
specimen collection (with gloved/
ungloved hands, lotion, powder, etc.)
Invalid: Specimen Appears Clotted or
Layered
• Possible causes:
– Touching same circle on filter paper to
blood drop numerous times
– Filling circle on both sides
(front & back) of filter paper
Invalid
• Specimen Appears Scratched or Abraded
– Possible cause: applying blood w/ capillary tube or other device
• Specimen not Dry Before Mailing
•
Possible cause: mailing specimen without letting it dry for at least 4 hrs
Heelstick Follow-Up Guidelines
(Non-NICU Patients)
Results
Required Action(s)
Normal
Ensure that results are available to PCP
Invalid
Collect specimen for repeat heelstick within 5 business
days of initial screen
Abnormal
Collect specimen for repeat heelstick within 5 business
days of initial screen
Presumptive
Positive
Upon notification of result from NBS lab, collect additional
specimens as necessary per guidelines outlined in the
instructions from the NBS Lab within 48 hrs, or
immediately per NBS Lab request.
Newborn Screening Administrative Code Title 410, Article 3.
http://www.in.gov/legislative/iac/
Invalid Heelstick Follow-Up
Guidelines
Reason Invalid
Required Action(s)
Heelstick performed <48
hrs of age and/or <24 hrs
on protein feed
•Collect heelstick specimen before discharge
•Repeat heelstick after 48 hrs of age but no later than 120 hrs (5
days) of age
•Notify family that repeat heelstick required
Discharged infant did not
receive all mandated
tests
•Immediately contact physician & mother via phone
•Immediately send written notification of need for repeat heelstick to
physician & mother; send copy to ISDH
Discharged infant did not
receive all mandated
tests AND physician
cannot be contacted
•If repeat heelstick not obtained w/in 3 days, notify ISDH via phone
•Send written notification to ISDH via fax or certified email w/in 3
days
Discharged infant needs
repeat NBS
•NBS Lab will notify physician & birthing facility that rescreen is
needed
•Notify parents to bring baby back for no-cost repeat NBS; Notify
PCP of repeat results w/in 3 business days of receiving results;
Notify PCP if repeat screen not obtained before 5 days of age.
Dried Blood Spot Consent
Process
• Parent(s) must be educated on dried blood spot (DBS) retention
and destruction.
• They have the choice of consenting to allow research to be
conducted on DBS cards. If used for research, the researcher
will not receive any information that would identify the child.
Cards are made available for 3 years
• If parent(s) do not choose to have the cards retained or used for
research, the cards will be destroyed at 6 months.
– All DBS cards are retained for 6 months in case a repeat test is needed
http://iga.in.gov/legislative/laws/2016/ic/titles/016/articles/041/chapters/017/
Pulse Oximetry Screening for
Critical Congenital Heart
Disease (CCHD)
Pulse Ox: Why do this
screen?
• Helps determine health of heart & lungs
• Low oxygen levels can indicate CCHD
– CCHD: Critical Congenital Heart Defect
– Baby’s heart doesn’t develop correctly
– All require treatment (usually surgery) soon
after birth to avoid complications (death)
• Every baby born in IN must be
screened for CCHD
Pulse Ox: What is this
screen?
• Small probe with red light measures
oxygen levels
• Placed on:
– Baby’s right hand
– One of baby’s feet
• Hand and foot can either be done at same
time or one after another
• Baby should be awake, calm, and warm
• Painless
Pulse Ox: When?
• Between 24 and 48 hrs of life
– Must be after 24 hrs because:
• Earlier screening leads to false positives
• Transition from fetal to neonatal circulation; must allow
time for systemic oxygen levels to stabilize
– Should be before 48 hrs because:
• The ductus arteriosus closes after this
• Some interventions can take advantage of ductus
arteriosus before it closes; don’t want to miss this
opportunity
• (If 48 hrs have already passed, still must do
pulse ox)
Pulse Ox: Did NOT Pass Result
• If any of the following are true, the pulse ox
screen was not passed:
– Oxygen saturation is <90% for any measurement
(hand and/or foot)
• Infant must be IMMEDIATELY referred
– Oxygen saturation is <95% in BOTH hand AND
foot on three separate consecutive measurements
separated by one hour
– Oxygen saturation in the hand is at least 3%
higher/lower than oxygen saturation in the foot on
three separate consecutive measurements
separated by one hour
Pulse Ox: Pass Result
• Both must be true for a pass:
– Oxygen saturations are 95% or higher in
the hand or foot
AND
– Difference between oxygen saturation in
the hand and foot is 3% or less.
Pulse Ox: right hand and one foot after 24 hrs of age
≥95% in right hand or
foot AND <3%
difference between
right hand & foot
< 95% in right hand & foot
OR >3% difference between
right hand & foot
<90% for either
right hand
and/or foot
Repeat pulse ox in 1hr
NORMAL
NEWBORN
CARE
< 95% in right hand & foot
OR >3% difference between
right hand & foot
Repeat pulse ox in 1hr
< 95% in right hand & foot
OR >3% difference between
right hand & foot
REFER INFANT
FOR CLINICAL
ASSESSMENT
Failed Pulse Ox
• Clinical assessment:
– Medical evaluation
– Echocardiogram
– Referral to pediatric cardiology
• Immediately if symptomatic
• In timely manner if asymptomatic
Protocols for Infants Who Did Not
Receive Pulse Ox
Reason Infant Did Not Receive
Pulse Ox
Required Action(s)
Did not receive all mandated tests due
to religious reasons
•
•
Discharged prior to receiving pulse ox
•
•
Transferred to another hospital prior to
receiving pulse ox
•
Ensure that parents complete
religious waiver
Send signed waiver to ISDH
Immediately contact physician &
mother by telephone to notify them
that pulse ox is required. (Must be
performed ASAP for a valid screen)
If mother cannot be contacted by
yourself or the physician and pulse
ox cannot be performed, contact
ISDH
Contact hospital to which infant was
transferred to ensure that pulse ox
was done
Early Hearing Detection and
Intervention (EHDI)
Universal Newborn Hearing Screening
Why Screen a Newborn’s Hearing?
• Up to 3 babies in 1000 have permanent
hearing loss. It is the most common
congenital condition
• Another 6 per 1000 babies acquire late-onset
hearing loss during childhood
• In Indiana, 134 babies were identified in 2015
– nearly 100 more that were born in other
years were also identified in 2015
Why UNHS?
• Before newborn hearing screening became
routine, most children were not identified with
hearing loss until the age of 2 or 3
• Today, many babies are identified by a few
weeks of age when appropriate intervention
programs can maximize their long term
speech and language, cognitive and social
skills
Why UNHS?
• Average age of identification:
– 1980s: 30 months
– 2003: 6 months
– 2007: 3 months
• When does a child begin to learn
language?
EHDI Goals
• 1-3-6!!
– Screen by 1 month
– Confirmatory evaluation by 3 months
(Identify!)
– Early intervention by 6 months
EHDI Process
• Babies are required by law to have a
hearing screening (preferably before 1
month of age)
– The only acceptable reason (by law) for a
baby to not receive a hearing screening is
a religious objection
Screening Procedure
• Screening may occur twice (max)
• Both ears screened each time
• Both ears must pass on the same
screen
• If both ears do not pass either screen,
they are referred immediately for a
diagnostic hearing evaluation
Infant Hearing Screening
• Otoacoustic
Emissions (OAE)
• Measures “echo” from
the inner ear
• Tests for sensory
hearing loss
Infant Hearing Screening
• Automated Auditory
Brainstem Response
(AABR)
• Measures brainwaves
associated with hearing
• Screens for all types of
hearing loss
EHDI Process
• Hospitals/birthing centers are required to
report UNHS data to ISDH/EHDI:
– Number of live births
– Babies that did not pass UNHS
– Babies that did not receive UNHS
– Babies that passed but are at risk
EHDI Best Practices
• The newborn or infant's hearing should be screened
after six (6) hours of age and prior to discharge as
follows:
– (1) Preterm newborns or infants (born prior to thirty-five (35)
weeks gestational age) who stay in the nursery greater than
five (5) days should have hearing screening when the
newborn or infant is medically stable, but prior to discharge.
EHDI Best Practices
• (2) Newborns or infants who reside for greater than
five (5) days in the neonatal intensive care unit
(NICU), especially those who have complicated birth
factors, are considered to be at significantly greater
risk for types of neural hearing loss, such as auditory
neuropathy/dysynchrony. These newborns or infants
should receive hearing screening or diagnostic
testing, or both, as recommended by the department.
EHDI Best Practices
• (3)When possible, inpatient diagnostic
testing shall be made available to longstay newborns or infants
Reporting to ISDH
1. Mail NBS card to laboratory
2. Monthly Summary Report
a) Paper copy or Online (INSTEP):
i.
Indiana Newborn Screening Tracking &
Education Program (INSTEP)
b) To register for INSTEP, please contact:
i.
ISDH Genomics and Newborn Screening
i. [email protected]
ii. P: (888) 815-0006
iii. F: (317) 234-2995
Mail NBS Card to IU
Laboratory
•
•
•
•
•
Create account with IU laboratory
– Barb Lesko
Send completed blood spot card to IU
Newborn Screening Lab within 24 hours of
collection.
Address:
Newborn Screening Laboratory
PO Box 770
Indianapolis, IN 46206
Phone: 1(800) 245-9137
– Request more supplies
Barb Lesko: (317) 491 – 6682
– Questions or concerns
– Sending NBS cards through
neighboring hospitals/clinics
– Establishing account
Contact Information
Newborn Screening
EHDI
Genomics and Newborn
Screening
Early Hearing Detection &
Intervention (EHDI) Program
[email protected]
P: (888) 815-0006
F: (317) 234-2995
Alyssa Rex, Follow-up Coordinator
[email protected]
P: 855.875.5193
F: 317.925.2888
USPS:
Indiana State Dept. of Health – Maternal and Child Health
Attn: Newborn Screening
2 N. Meridian St.
Indianapolis, IN 46204
Requesting Lab Results
• Fax the lab on your letterhead and
include:
– Baby’s name
– Baby’s DOB
– Mom’s name
– Birth Facility
• Fax: (317) 491-6679
Opting Out
• Every person has the right to opt out of
newborn screening due to religious
beliefs
– Complete Religious Waiver
• Mail or Fax:
Indiana State Department of Health
Attn: Genomics and Newborn Screening
2 North Meridian
Indianapolis, IN 46204
Fax: (317) 234 – 2995
- Update INSTEP exception
NBS UPDATES
NewSTEPs360
• Advisory Committee on Heritable Disorders in
Newborns and Children (ACHDNC)
– Recommended Universal Screening Panel (RUSP)
– Standardized best practices in NBS
• Objectives:
– Specimen received by lab 24 hours after collection
– Presumptive Positive results reported within 5-7 days
after birth
– All results within 7 days after birth
Weekend Courier
• Spring 2017, the IU NBS laboratory will be
adding a Sunday courier pickup to increase the
turnaround time for NBS specimens
• In addition, the laboratory will be extending the
laboratory hours from 5 days/week to 6
days/week
• These changes will result in faster NBS results
and quicker care for newborns born with a
genetic condition
Quality Indicators and Training
• Best practices on your end that can help the NBS lab meet the
timeliness expectations:
– Allow blood spot to dry 4 hours before putting in envelop
• Coordinate heelstick time with courier pick-up time
• Quality checks:
– NBS Lab will be tracking time of receipt (blood spot card)
– NBS Lab tracking invalid blood spot results
– Show facility performance monthly (webinars, newsletters, ISDH
website)
• Training:
– Monthly webinars
– ISDH NBS team able to offer focused training as needed or as
indicated by quality checks
Q&A
• Any questions?!?