Indiana Newborn Screening

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					      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 state-
    mandated 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, non-
    invasive 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
                                                                                                 Elkhart                     Steuben
                                  Lake                                   LaPorte                             LaGrange    Cameron
                                                                                                Elkhart                                    St. Joseph
                                                               Porter LaPorte HospSt. Joseph              LaGrange
                       Comm Hosp of Munster                                                    Gen Hosp                  Mem Hosp
                                                                                                                                        Ancilla Health Care
                       Methodist Hosp Gary
                                                         Lake Portage St Anthony              Goshen
                                                                                                           Hosp
                                                               Comm     Hosp Mich                                                       Mem Hosp – South
                       Methodist Hosp Merrillville                                             Gen Hosp     Noble        DeKalb       Bend
                                                               Hosp     City        Marshall
                       Saint Anthony Med Cen of               Porter                                     Parkview     •DeKalb        St Joseph Med Cen –
                                                                                    CommHos Kosciusko
                       Crown Point                             Mem Hosp      Starke St Joe Hos Kosciusko Noble Hosp Mem Hosp          South Bend
                       Saint Catherine Hosp of East                    Starke Mem Marshall Co

Map of                 Chicago
                       Saint Margaret Mercy –
                       Hammond
                                                              Jasper Hosp
                                                             Jasper Co
                                                             Hosp
                                                                        Pulaski
                                                                        Pulaski
                                                                                      Fulton
                                                                                    Woodlawn
                                                                                                Comm Hosp Whitley         Allen
                                                                                                           Whitley Lutheran Hosp
                                                                                                           Mem HospParkview Mem
                                                                                                                     St Joe Med Cen
                       Saint Margaret Mercy –Dyer                                  Hosp                                                        Wells
                                                       New               Mem Hosp
                                                                                             Miami Wabash Hunt- – Ft Wayne
                       Saint Mary's Med Cen -                                                                                         Bluffton Med Center
                                                                                             Dukes Wabash ington
Indiana -              Hobart
                                Howard
                                                       ton             White
                                                                 White Co
                                                                  Mem Hosp
                                                                                 Cass
                                                                                 Logansport
                                                                                  Mem Hosp
                                                                                             Mem Co Hosp Parkview
                                                                                             Hosp          Health
                                                                                                                     Wells Adams
                                                                                                                             •Adams
                                                                                                                                       Caylor-Nickel Hosp


                                                                                                           Center
                                                                                                                             Co Mem
                      Howard Comm Hosp                  Benton              Carroll                                               Hosp
                      St Joe Hosp/Health Care Ctr                                                       Grant                              Blackford
Outreach              - Kokomo

                              Vermillion
                                                       Warren
                                                                   Tippecanoe
                                                                   Lafayette
                                                                   Home Hosp
                                                                                             Howard Marion Gen ford
                                                                                               Tipton
                                                                                                            Hosp
                                                                                                                       Black Jay
                                                                                                                               Jay Co
                                                                                                                                            Blackford Co Hosp

                                                                                Clinton
                                                                                              Tipton Co M         Delaware Hosp
                     West Central Community                                    St Vincent                a                                           Madison
                                                                                               Mem Hosp d
                                                                                                                   Ball Mem Randolph Community Hosp of Anderson
                                 Hosp                   Fountain Montgomery Franklin Hos
                                                                                              Hamilton i             Hosp     St Vincent  St John Med Center
                                                    V             St Clares
                                                                   Med Center Boone           Riverview s                     Randolph    St Vincent Mercy Hosp – Elwood
                                 Morgan              e                                                     o                    Hosp
                                                                                               Hosp                Henry
                                                     r                                                     n
                     Morgan Co Mem Hosp            m                                                              Henry Co Wayne
                     St Francis Hosp                i                          Hendricks Marion Hancock Mem Hosp Reid Hosp
                                                     ll    Parke                Hendricks            Hancock                  & Health                    Marion
                      Mooresville                                   Putnam Comm
                                                     i                                                Mem Hosp                 Care Ctr
                                                     o                                                                     Fayette         Columbia Women's Hosp of Indpls
                                                                   Putnam Co Hosp
                                                     n
                                                                      Hosp
                                                                                                                   Rush Fayette Union Community Hosp of Indpls
                                 Vigo                                                         Johnson Shelby                 Mem Hosp         1-East, 2-North, 3-South
                                                             Clay                 Morgan Johnson •Major
                     Columbia Terre Haute             Vigo St
                                                                                                       Hosp
                                                                                                                                           Methodist Hosp Indpls
                                                                                             Mem                             Franklin
                     Union Hosp – Terre                    Vincent                         Hosp                 Decatur                  Nurse Midwives
                     Haute                                  Clay
                                                                     Owen Monroe                    Barthol Decatur                       Riley Hosp - Data Management Off.
                                                             Co
                                                                                                     omew      Mem Hosp
                                                                                                                                           St Francis Hosp. Center
                                Dubois           Sullivan                       Bloom BrownColumbus                             Dearborn
                                                                                                                        Ripley             St Vincent Hosp & Health Care Center
                                                              Greene             ington                                                    Wishard Mem Hosp
                          Memorial Hosp       Sullivan Co                                        Reg Hosp             Margaret
                                               Comm Hosp Greene Co                                          Jennings Mary Comm
                                                                                 Hosp
                          & Health Care –                                                                                                  University Hospital
                                                            Gen Hosp            Lawrence    Jackson                     Hosp
                          Jasper                                                            Memorial                               Ohio
                                                                                Bedford
                          St Joseph Hosp                                        Medical Ctr Hosp Seymour
                                                                                                                    Jefferson
                                                                                                                              Switzerland
                                                  Knox                                                           King’s                          Dearborn
                          – Deaconess –                     Daviess             Dunn Mem
                          Huntingburg              Good Daviess Martin Hosp Washington                          Daughters Hosp              Dearborn Hosp
                                                Samaritan Co Hosp              Orange Wash. Co            Scott
                                                Hosp                          Bloomington Mem Hosp                                Scott
                                                                                                            Clark
                                                                              Hosp of                                    Scott Co Mem Hosp
             Vanderburgh                                Pike                                            Clark Mem
                                                                              Orange Co
                                            Gibson                Dubois                                Hosp
         Deaconess Hosp                    Gibson                             Crawford             Floyd
         St Mary’s Med Center               Gen Hosp
          Evansville                                                                        Harrison              Floyd
                                                                             Perry          Harrison
         St Mary’s Riverside                         Warrick               Perry Co                      Floyd Mem Hosp
                                      Posey Vander                                           Co Hosp
         Hosp                                burgh              Spencer Mem
                                                                           Hosp
        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                 Meconium Testing Program
                                   • Pilot Program
Program
• Permanent Law                    • Selected Screening
• Universal Screening              • Non-invasive Procedure
• Invasive Procedure               • Refusal Not Allowed
                                   • AIT Laboratory
• Parents May Refuse               • Funded by State If Criteria
• IU Newborn Screening Lab         Met
• Funded by Hospital/patient       • Follow-up by Physician –
• Centralized Patient Follow-up    No Individual Follow-up by
                                   State
• Established Standard of Care     • 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   Amphetamine, Methamphetamine
Cannabinoids   Marijuana
Cocaine        Cocaine
Opiates        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?



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