Transcript Indiana Newborn Screening

Newborn Screening
Program (NBS)
Community and Family Health Services
Commission
Indiana State Department of Health
NBS

A blood test (by heel-stick) that is done on all infants
shortly after birth to test for certain genetic conditions.
 All infants born in Indiana must be tested for:
- Phenylketonuria (PKU)
- Galactosemia
- Homocystinuria (Classic)
- Maple Syrup Urine Disease (MSUD)
- Hypothyroidism
- Hemoglobinopathies / Sickle Cell Disease
- Congenital Adrenal Hyperplasia (CAH)
- Biotinidase Deficiency
-Disorders Detected by MS / MS
MS/MS: Tandem Mass
Spectrometry
--In 2001 the IN State Legislature amended
the requirements of the NBS Law to
include additional disorders detected by
this process
--Tandem Mass Spectrometry is an
analytical technique that separates and
detects protein ions
--Expanded testing for 17 additional
conditions was initiated in January 2003
Disorders Detected by
Tandem Mass Spectrometry



Fatty Acid Oxidation Disorders: Interfere
with the body’s ability to turn fat into
energy
Organic Acid Disorders: Inability to
break down amino acids and other
metabolites
Other Amino Acid Disorders: Include
Tyrosinemia & disorders of Urea Cycle
Mission Statement



Ensure that all newborns receive statemandated screening for genetic disorders.
Follow-up to ensure that infants who test
positive for a screened condition receive
appropriate treatment, and that their parents
receive appropriate genetic counseling.
Promote public awareness concerning
genetic conditions.
NBS Law
It is legislatively mandated (IC 16-41-17)
IC 16-41-17-8 states that
“Each hospital and physician shall ~ take or
cause to be taken a blood sample from every
infant born under the hospital’s and
physician’s care”

NBS Law
410 IAC 3-3-3 Sec. 3 (d) states that;
“If the infant is discharged from the hospital
before forty-eight (48) hours after birth or
before being on a protein diet for twenty-four
(24) hours, a blood specimen shall be
collected regardless.”
Newborn Screening Process






Protocols
Initial screening
Normal result
Invalid screen
Abnormal Result
Presumptive positive
Positive cases
Newborn Screening Process
WHAT IS A VALID SCREEN?


A valid screen is one which is drawn
after the child is 48 hours of age and
has been on protein feeding for at least
24 hours.
The blood specimen must be received at
the laboratory within 10 days of
collection.
Newborn Screening Process
Why may a screen be invalid / incomplete?



If a screen is drawn prior to 48 hours of age and/or
24 hours protein feeding.
Missing or erroneous information on test
requisition card.
Rejection due to QNS, or specimens greater than 10
days old.
Newborn Screening Process
Video
- How to conduct valid NBS test
Newborn Screening Process
Centralized follow-up system




Invalid screen
Abnormal Result
Presumptive positive
Confirmed positive
ISDH
RESPONSIBILITIES





Ensure mandated newborn screening tests are
properly conducted.
Ensure appropriate diagnosis & management of
affected newborns.
Administer the Newborn Screening Program
Fund.
Designate / contract with a Newborn Screening
Laboratory.
Conduct an educational program for health care
providers, local health officials, and the public.
Hospital Responsibilities



Screen all the newborns prior to discharge
Notify/educate parents of needed tests
(<24, <48, <24 & < 48, abnormal, presumptive
positive)
Notify ISDH:
1. Non-compliant
2. Unable to contact
3. Change of information
PHN Responsibilities
NBS Law (IC 16-41-17-5)
“ The state department and all local boards
of health shall encourage and promote the
development of plans and procedures for
the detection of the disorders listed in IC
16-41-17-2 in all local health jurisdictions
of Indiana.”
PHN Responsibilities



Upon receiving request for assistance
Notify/educate parents of needed tests (<24,
<48, <24 & < 48, abnormal, presumptive
positive)
. Send letter
. Make phone calls
. Make home visit
PHN Responsibilities

If applicable
Collect blood sample and send to IU-NBS Lab
. Properly collect specimen
. Properly handle and transport
specimen
PHN Responsibilities
If parents refuse based on religious reasons
Have them complete religious waiver
send to ISDH
PHN Responsibilities
Complete Request for Assistance form and
return to ISDH in 21 days (as indicated) if
. Completed follow-up activities
. Non-compliant
. Unable to contact
. Change of information
Assurance




More than 99% of infants receive initial screen
More than 98% of newborns receive complete /
valid screens
100% of infants with positive test condition
received treatment and follow-ups
More than 35 PHN assistance requested per
month
Indiana Newborn
Hearing Screening
Children and Family Health Services
Commission
Indiana State Department of Health
UNHS
Indiana’s Universal Newborn Hearing
Screening Program is designed to
identify infants, assure appropriate
intervention, and collect information
on the incidence of hearing loss in
infants born in Indiana.
UNHS
Legislative mandated program
IC 16-41-17-2
“… every infant shall be given a physiologic hearing
screening examination at the earliest feasible time
for the detection of hearing impairments.”
Why Is UNHS Mandated
 Hearing loss occurs more frequently than any
other problems screened for at birth
 1 to 3 out of every 1000 babies are born with
permanent hearing loss
 Simple, inexpensive, non-invasive, and safe
tests are available
How Are Babies Tested

Two procedures
 Automated ABR
 Oto-acoustic Emissions
Auditory Brainstem
Response




Band-aid-like electrodes
Earphones
Clicks are presented
Measures the brain’s response
to sound
Oto-acoustic Emissions



Miniature earphone and
microphone
Clicks are heard
Ear echoes back and is recorded
by the microphone



Both are reliable and accurate
Some hospitals use one
method
Some hospitals use a
combination
Expected Outcomes of
UNHS
 Across the nation, 2-10% of babies
do not pass the screen
 The expected referral rate for UNHS
is <4%
 Less than 1% will have a hearing loss
Most babies referred will be shown to
have normal hearing
Why Is Detection of Hearing
Loss Important
 Most common congenital anomaly
 Evidence suggests that early identification
and intervention results in significantly
better language ability
 UNHS increases the chance that
intervention will occur before 6 months of
age
Can A Baby Pass and Still
Have a Loss



Not Often
Some mild losses or losses that
only affect certain pitches may
be missed
Some will have delayed onset
hearing loss (not present at
birth)
Goals of UNHS
 Physically screen all infants born in
Indiana prior to discharge
 Perform diagnostic evaluation before
three months of age
 Enroll in early intervention before six
months of age
Hospital Responsibilities
 Screen all the infants prior to discharge
 Provide second screen to those who do not
pass initial screen
 Notify parents of results
 Report all that do not pass two screens to
ISDH
Hospital Responsibilities
 Report to ISDH
1. Non-compliance
2. Inability to contact families
3. Change of information
Basic Protocol


Provide UNHS brochure to all parents
Explain how, when, where, duration, of
the screening process to all parents
Basic Protocol



Reassure all parents that screen is safe, noninvasive and painless
Complete religious waiver and attach a copy
to MSR if parents refuse screening due to
religious reasons
Best Practice: Complete re-screens prior to
discharge
What Are Risk Factors



Family history of congenital hearing loss
Congenital infection (Herpes,
Cytomegalovirus, Rubella, Syphilis,
Toxoplasmosis)
Hyperbilirubinemia/Tranfusion
High Risk Factors for Delayed
Onset of Hearing Loss
Infant should have follow –up testing at 9 to
12 months of age
 Follow-up every 6 to 12 months until age 3
 A more formal mechanism of follow-up is
being developed
(Child with speech/language delays of
concerns should have hearing tested)

What to Say to Parents
When Referral Is Indicated




Keep it simple
Do not say “failed” or “deaf” or “this
happens a lot”
Indicate the infant did not pass the hearing
screen
Reassure the family that there are many
reasons why this can happen
What to Say to Parents
When Referral Is Indicated



Reassure the family that further diagnostic
testing will clarify the hearing status
Stress that it is important that the diagnostic
testing is completed in a timely manner (by
age 3 months)
Provide the family with the referral brochure
and inform them about First Steps Early
Intervention Program
First Steps Program




Early Intervention Program
(Administered by FSSA, Part C/IDEA)
Provide testing and follow-up to families for a
minimal cost
Audiologist must be enrolled providers for
reimbursement
Waiver of informed consent
First Steps Responsibilities
Best Practices



Ensure appropriate diagnostic evaluation for all
babies who need it
Assist ISDH with tracking of babies identified with
hearing loss
Provide follow up and technical assistance to
families with children at high risk of hearing loss
under three years of age
Medical Homes



The primary medical physician (PMP) is
responsible for overall medical well being of
the child
The PMP needs to be informed about
screening results/risk factors, and follow up
issues
The PMP is an important member of the team
for the best long term outcomes
Lake
Map of
Indiana -
Comm Hosp of Munster
Methodist Hosp Gary
Methodist Hosp Merrillville
Saint Anthony Med Cen of
Crown Point
Saint Catherine Hosp of East
Chicago
Saint Margaret Mercy –
Hammond
Saint Margaret Mercy –Dyer
Saint Mary's Med Cen Hobart
Howard
Howard Comm Hosp
St Joe Hosp/Health Care Ctr
- Kokomo
LaPorte
Elkhart
LaGrange
Steuben
Cameron
Elkhart
Porter LaPorte HospSt. Joseph
LaGrange
Mem Hosp
Gen Hosp
Hosp
Lake Portage St Anthony
Goshen
Comm
Hosp Mich
Gen Hosp
Noble
DeKalb
Hosp
City
Marshall
Parkview
•DeKalb
Porter
CommHos Kosciusko
Starke St Joe Hos Kosciusko Noble Hosp Mem Hosp
Mem Hosp
Starke Mem Marshall Co
Allen
Comm Hosp Whitley
Jasper Hosp
Whitley Lutheran Hosp
Fulton
Pulaski
Jasper Co
Mem HospParkview Mem
Woodlawn
Pulaski
Hosp
St Joe Med Cen
Hosp
Mem Hosp
New
Miami Wabash Hunt- – Ft Wayne
Dukes Wabash ington
White
Cass
ton
Wells Adams
Mem Co Hosp Parkview
White Co
Logansport
•Adams
Hosp
Health
Mem Hosp
Mem Hosp
Co Mem
Center
St. Joseph
Ancilla Health Care
Mem Hosp – South
Bend
St Joseph Med Cen –
South Bend
Wells
Bluffton Med Center
Caylor-Nickel Hosp
Hosp
Blackford
Black
Blackford Co Hosp
Howard Marion Gen ford Jay
Hosp
Warren
Jay
Co
Tipton
Vermillion
Clinton
Delaware Hosp
Tipton Co M
St
Vincent
a
Madison
West Central Community
Mem Hosp d
Ball Mem Randolph Community Hosp of Anderson
Fountain Montgomery Franklin Hos
Hosp
St Vincent
Hosp
St John Med Center
Hamilton i
St Clares
V
Randolph
St Vincent Mercy Hosp – Elwood
Riverview s
Med Center Boone
Morgan
e
o
Hosp
Hosp
Henry
r
n
Henry Co Wayne
m
Morgan Co Mem Hosp
i
Hendricks Marion Hancock Mem Hosp Reid Hosp
St Francis Hosp
& Health
Parke
Marion
ll
Hendricks
Hancock
Mooresville
Putnam Comm
Care Ctr
i
Mem Hosp
Columbia Women's Hosp of Indpls
o
Fayette
Putnam Co Hosp
n
Rush Fayette Union Community Hosp of Indpls
Hosp
Vigo
Shelby
Johnson
1-East, 2-North, 3-South
Mem Hosp
Clay
Morgan Johnson •Major
Vigo St
Methodist
Hosp Indpls
Columbia Terre Haute
Hosp
Mem
Franklin
Nurse Midwives
Vincent
Union Hosp – Terre
Decatur
Hosp
Clay
Riley Hosp - Data Management Off.
Haute
Barthol Decatur
Owen Monroe
Co
St Francis Hosp. Center
omew
Mem
Hosp
Dearborn
Dubois
Sullivan
Bloom BrownColumbus
St Vincent Hosp & Health Care Center
Ripley
ington
Greene
Reg Hosp
Wishard Mem Hosp
Sullivan Co
Margaret
Memorial Hosp
Hosp
Jennings Mary Comm
Comm Hosp Greene Co
University Hospital
& Health Care –
Jackson
Gen Hosp
Lawrence
Hosp
Jasper
Ohio
Memorial
Bedford
Jefferson
St Joseph Hosp
Medical Ctr Hosp Seymour
Switzerland
Knox
Dearborn
King’s
– Deaconess –
Dunn Mem
Daviess
Daughters
Hosp
Huntingburg
Good Daviess Martin Hosp Washington
Dearborn Hosp
Samaritan Co Hosp
Orange Wash. Co
Scott
Scott
Bloomington Mem Hosp
Hosp
Clark
Hosp of
Scott Co Mem Hosp
Clark Mem
Vanderburgh
Pike
Orange Co
Hosp
Gibson
Dubois
Deaconess Hosp
Gibson
Crawford
Floyd
Gen Hosp
St Mary’s Med Center
Harrison
Floyd
Evansville
Perry
Harrison
Warrick
St Mary’s Riverside
Perry
Co
Floyd Mem Hosp
Co Hosp
Posey Vander
Hosp
burgh
Spencer Mem
Outreach
Benton
Carroll
Tippecanoe
Lafayette
Home Hosp
Hosp
Grant
UNHS Consultants




Six consultants
Funded through a federal grant to ISDH
Contracted through Indiana School for the
Deaf
Implement outreach activities across the
State
UNHS Consultants Role



Provide technical assistance, training, and
consultation to hospitals and families
Provide in-service training to early
intervention providers
Serve as regional resource to ensure
appropriate and timely care for children
suspected to have or identified with hearing
loss
What Services Are
Appropriate for Infants



Diagnostic audiologic testing to confirm
hearing status
Diagnostic process may involve multiple
evaluation procedures that may be
completed over a couple of visits
Determination of FS eligibility and need for
early intervention services
Use of Family Resource
Guide for Infants with
Hearing Loss



Provide family support in understanding
information
Information about all communication and
language options that need to be given
Families need to investigate by observation
with those using all available options
Public Health Nurse’s Role

Assist ISDH in locating families of infants
lost to follow-up who
. Need initial screen or re-screen
. Need diagnostic assessment
. Need follow-up for risk of delayed onset
Public Health Nurse’s Role



Discuss the importance of UNHS with families who
refuse screen for their infant (if not based on
religious objection)
If parents refuse screen based on religious reason,
have them completed and sign religious waiver and
send back to ISDH
Assist ISDH in obtaining follow-up for any families
in need of services
Meconium Screening
Program
Community and Family Health Services
Commission
Indiana State Department of Health
Meconium Screening
Program
Newborn Screening
Program
• Permanent Law
• Universal Screening
• Invasive Procedure
• Parents May Refuse
• IU Newborn Screening Lab
• Funded by Hospital/patient
• Centralized Patient Follow-up
• Established Standard of Care
Meconium Testing Program
• Pilot Program
• Selected Screening
• Non-invasive Procedure
• Refusal Not Allowed
• AIT Laboratory
• Funded by State If Criteria
Met
• Follow-up by Physician –
No Individual Follow-up by
State
• No General Standard of
Care
Why Meconium Testing
• It is legislatively mandated (PL-291/2001)
• Drug abuse during pregnancy is a major health problem.
Early recognition, proper treatment, and follow-up to
maximize the child’s development is imperative since
intrauterine drug exposure is associated with mild to
severe developmental delay, central nervous system
damage, and behavioral dysfunction.
Mission Statement
• To identify drug afflicted infants for
referral to appropriate intervention and
protection programs.
• To collect information on the incidence
of drug abuse during pregnancy.
State Criteria
1. The newborn’s weight is less than 2500 grams
and the head is smaller than the 10th
percentile for the infant’s gestational age
when there is no other medical explanation for
these conditions.
OR
State Criteria
2. When any two of the following conditions exist:
• history of current or past drug use
• unexpected abruptio placentae
• no or inconsistent prenatal care; and
• infant shows signs/symptoms suggestive of drug
effects
Drug for Testing
CLASS
SPECIFIC DRUG
Amphetamines
Cannabinoids
Cocaine
Opiates
Amphetamine, Methamphetamine
Marijuana
Cocaine
Heroine, Morphine, Codeine,
Hydrocodone
Positive Screening Result
 Refer Child to First Steps
 Refer Mom to a Treatment Program
 Referral to Division of Family Services –
Child in Need of Services
Negative Screening Result
 No drugs/controlled substances were used
Use of drug not detected by the test
 Use of drug that is detected by the test but

– did not take large enough dose
– did not take it frequently enough to be detected
– drug was taken in early pregnancy, during the first
trimester
Benefit
• Reduction of
post-delivery drug exposure (breast
feeding)
• Maternal drug treatment
• Pediatric follow-up
• Programs for improvement of parenting skills
• Home assistance
AIT Laboratories

State designated labs for the drug
testing program 317-243-3894
Meconium Collection
Procedures
Groups Associated and Responsible for
Testing
 Attending Physician / Birthing
Institution
 Courier
 Laboratory
Meconium Collection
Procedures
Collection Supplies:
. ISDH Instruction Package
. Requisition Form (317-243-3894)
. Collection Kit (317-243-3894)
Meconium Collection
Procedures
. Proper completion of the Requisition
Form
. Proper collection of specimen
. Proper sealing & shipping of the
specimen
. Shipping of the specimen to AIT
Laboratories timely
(317-243-3894)
Evaluation
2002 program report
Questions?
THANK YOU!