Newborn Screening

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					Hospital & Midwives Training




         Maternal and Child Health
  Genomics and Newborn Screening Program
Introduction to Indiana’s Newborn
       Screening Program
Why Do Newborn Screening?


•   Required by Indiana law (Indiana Code 16-41-17)

•   Early detection & early treatment of newborn
    screening disorders:
    – Lessens severity of complications
    – Improves quality of life

•   Lack of early detection & treatment can lead to:
    – Severe mental retardation
    – Inadequate growth & development
    – Death
   Mission of ISDH Newborn
      Screening Program


• Ensure that every newborn in Indiana receives state-
  mandated screening for all 46 designated 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
                         History of Newborn Screening
                                    in Indiana

•   1965: PKU only condition included in newborn screen

•   1978: Hypothyroidism added

•   1985: Galactosemia, homocystinuria, maple syrup urine disease (MSUD), and
    hemoglobinopathies added

•   1999: Biotinidase deficiency and congenital adrenal hyperplasia added

•   2003: Screening further expanded to include disorders detected by tandem mass
    spectrometry (MS/MS)
•
•   2007: Cystic fibrosis was added to the panel

•   Currently, all infants born in Indiana are screened for 46 conditions
    (including hearing loss)
 Indiana’s Newborn Screen

• Two parts:

  – Heel Stick Screening
     • Includes Sickle Cell Program & Cystic Fibrosis
       Program
     • Also includes follow-up for metabolic and endocrine
       conditions on newborn screening panel


  – Early Hearing Detection and Intervention
    (EHDI)
     • Includes Universal Newborn Hearing Screen
       Part I


Heel Stick Screening
               Heel Stick 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
                 Tandem Mass Spectrometry (MS/MS)


• Analytical technique that separates & detects protein
  ions

• Enables newborn screening labs to quickly & efficiently
  detect many conditions in a single process through use
  of dried blood spot specimens

• Disorders detected by MS/MS:
   • Fatty acid oxidation disorders
       • Interfere with body’s ability to turn fat into energy
   • Organic acid disorders
       • Inability to break down certain amino acids & their metabolites
   • Other amino acid disorders (including tyrosinemia & urea cycle
     disorders)
                              Roles in the Heel Stick Process
          Entity                                                        Role(s)
                                   • Ensure that mandated NBS is properly conducted
           ISDH                    • Ensure that appropriate diagnosis & management of affected newborns occur
                                   • Designate & contract with state NBS laboratory
                                   • Screen all infants prior to discharge
                                   • Maintain NBS log
                                   • Notify parents to bring baby in for NBS if infant left hospital before NBS and
                                   parents did not sign religious waiver
                                   • Educate parents about the importance of NBS
                                   • Notify ISDH immediately if babies are discharged before receiving NBS
         Hospitals
                                   • Notify IU NBS lab if infants who need repeat screens cannot be contacted
                                   • Notify IU NBS lab and ISDH if changes in demographic information are
                                   identified
                                   • Notify parents if baby needs repeat NBS for any reason
                                   • Notify primary care providers (PCPs) of NBS results
                                   • Notify PCPs if baby does not return for repeat NBS
                                   • Alert parents about newborn screening
                                   • Collect a heel stick sample directly or refer family to appropriate
                                   physician/facility for heel stick collection
         Midwives                  • If family refuses NBS based on religious reasons, have parent(s) sign religious
                                   waiver & submit religious waiver to ISDH NBS Program
                                   • Notify ISDH NBS Program if an infant has not received a screen
                                   • Notify ISDH NBS Program within 3 days of receiving NBS results
                                   • Assist ISDH in locating parents of infants who were not screened, had invalid or
                                   abnormal screens, or require diagnostic testing
                                   • Educate parents about the importance of NBS and follow-up
Public Health Nurses (PHNs)
                                   • If parent(s) unable to get baby to hospital for repeat NBS, collect NBS
                                   specimens if trained & certified
             Newborn Screening Log

• All birthing facilities should maintain a Newborn
  Screening Log which documents the following
  information for all infants:

  – Specimen collection date

  – Specimen submission date

  – Date NBS results were received

  – Results of NBS
                  Heel Stick Procedure



• NOTE: The following procedures are modified from the heel-stick
  procedures slides provided by the New York State Department of Health
                  Heel Stick Procedure
                         Step 1




• Equipment:
   – Sterile lancet with tip appropriately 2.0 mm - sterile alcohol prep
   – Sterile gauze pads
   – Soft cloth
   – Blood spot card
   – Gloves
Blood Spot Card (front)
Blood Spot Card (back)
                 Heel Stick Procedure
                        Step 2




• Complete ALL information on blood spot card.
  – Do not contaminate filter paper circles by allowing the
    circles to come into contact with spillage or by touching
    before or after blood collection.
             Heel Stick Procedure
                    Step 3



• Hatched areas
  (arrows) indicate
  safe areas for
  puncture site.
            Heel Stick Procedure
                   Step 4


• Warm site with soft
  cloth moistened with
  warm water (up to
     o
  41 C) for 3 – 5
  minutes.
           Heel Stick Procedure
                  Step 5


• Cleanse site
  with alcohol
  prep.

• Wipe DRY with
  sterile gauze
  pad.
             Heel Stick Procedure
                    Step 6

• Puncture heel.
  – Wipe away first blood
    drop with sterile
    gauze pad.
  – Allow another
    LARGE blood drop to
    form.
                     Heel Stick Procedure
                            Step 7
• 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 filter
  paper only.
               Heel Stick Procedure
                      Step 8
• Fill remaining circles in
  the same manner as
  step 7, with successive
  blood drops.

• If blood flow is
  diminished, repeat
  steps 5 through 7.

• Provide care to the skin
  puncture site.
                Heel Stick Procedure
                       Step 9




• Dry blood spots on a dry, clean, flat, non-absorbent surface for a
  minimum of four (4) hours.
        Heel Stick Procedure
               Step 10




• Mail completed blood spot card to IU
  Newborn Screening Lab within 24
  hours of collection.
           Heel Stick Procedure


                    NOTE:

• Use of capillary tubes to collect heel stick
  specimens is NOT recommended or
  included as part of Indiana’s protocols
Valid vs. Invalid Blood Spot Specimens
Valid Heel Stick Specimens

•       A newborn screen is valid when:

    •     The child is at least 48 hours of age

    •     The child has been on protein feeding for at
          least 24 hours

    •     The NBS blood specimen is received by the
          NBS laboratory within 10 days of collection
      Valid Specimens

• 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.
Invalid Specimens
     Specimen Quantity Insufficient for Testing




                             Possible causes

1.   Removing filter paper before blood has completely filled circle or
     before blood has soaked through to second side.

2.   Applying blood to filter paper with a capillary tube.

3.   Touching filter paper before/after blood specimen collection (with
     gloved/ungloved hands, lotion, powder, etc.)
 Specimen Appears Scratched/Abraded




                  Possible cause

1. Applying blood with capillary tube or other
   device.
     Specimen Not Dry Before Mailing




                 Possible cause

1. Mailing specimen without drying for at least
   four (4) hours.
Specimen Appears Clotted or Layered




                      Possible causes

1. Touching same circle on filter paper to blood drop
   numerous times.

2. Filling circle on both sides (front & back) of filter
   paper.
    NBS Results and
Required Follow-up Actions
                   Possible Results of NBS

• Normal
   – All values fall within normal range

• Invalid screen
   – Specimen does not meet criteria for valid screen
       • Specimen > 10 days old
       • QNS (quantity not sufficient)

• Abnormal result(s)
   – Result(s) fall outside of normal range, but are not presumptive positive
   – Additional testing may be required to confirm result(s)

• Presumptive positive result(s)
   – Result(s) are outside the range of normal values and suggest presence of
     NBS condition
   – Additional testing may be required to confirm result(s)
   Heel Stick Follow-Up Guidelines
         (non-NICU patients)


       NBS Results                              Required Action(s)

     Normal NBS Results          • Ensure that NBS results are available to PCP.



                                 • Collect specimen for repeat NBS within 5 business days
     Invalid NBS Results         of initial screen.


                                 • Collect specimen for repeat NBS within 5 business days
   Abnormal NBS Result(s)        of initial screen.


                                 • Upon notification of result from NBS lab, collect additional
Presumptive Positive Result(s)   NBS specimen (as necessary) within 48 hours.
                      Heel Stick Follow-Up Guidelines
                               (NICU Patients)

                                 Guideline Weight Requirement: < 2,000 g
                            Type of Testing                                                  When to Collect NBS Specimen(s)
                                                                                   • 1st specimen: 0 – 6 days
                                                                                   • 2nd specimen: 14 days*
          Routine Retesting (for all NICU patients)
                                                                                   • 3rd specimen: 30 days*
                                                                                   • Monthly thereafter until discharge


           Retesting due to Abnormal NBS Result                                    • Same as guidelines for non-NICU patients


  TPN or Amino Acid- / Carnitine-Enhanced Formula                                  • Follow routine testing guidelines

For infants requiring transfusions:

                                                                                   • Collect before transfusion
                            Pre-transfusion
                                                                                   • Follow routine testing guidelines

                                                                                   • Collect before 6 days of age
                           Post-transfusion                                        • Follow routine testing guidelines
                                                                                   • Collect final specimen at 2 – 4 months of age

*NOTE: If discharge occurs within 6 days of 2nd or 3rd specimen, no specimen is required at discharge.


                                                                                                                          Implemented October 1, 2007
                        NICU Specimens

• For presumptive positive / abnormal NBS results for any
  specimen drawn from a baby in the NICU, follow-up should
  be performed per guidelines for non-NICU patients
   – Abnormal: Collect repeat NBS specimen within 5 business days
   – Presumptive positive: Collect additional specimen within 48 hours, as
     requested by NBS lab

• Exception: congenital hypothyroidism

   – Babies in the NICU are at increased risk for developing delayed
     hypothyroidism due to the immaturity of their endocrine systems

   – Routine rescreening should be performed for all NICU babies per
     NICU guidelines
       • Additional heel stick specimens used to check for development of delayed
         hypothyroidism
 Required Follow-up Actions for Infants With Invalid Newborn Screens

         Reason                                                  Required Action(s)

                                  • Collect NBS specimen before discharge
Infant discharged from hospital
                                  • Repeat NBS specimen should be collected after 48 hours of age, but no later than 120
 before 48 hours of age and on
                                  hours (5 days) after birth
   protein feed for < 24 hours
                                  • Notify family that repeat NBS will be required

                                  • Immediately contact responsible physician & mother via phone
  Discharged infant did not       • Immediately send written notification of need for repeat NBS to responsible physician &
  receive all mandated tests      mother
                                  • Send copy of letter to ISDH NBS Program

   Discharged infant did not
receive all mandated tests and    • If repeat NBS not obtained within 3 days, notify ISDH NBS Program via telephone
 responsible physician cannot     • Send written notification to ISDH via fax or certified e-mail within 3 days
         be contacted

                                  • NBS laboratory will notify responsible physician & birthing facility that re-screen is needed
Discharged infant needs repeat    • Hospital responsibilities: 1) Notify parents to bring baby back to hospital for no-cost
             NBS                  repeat NBS, 2) notify infant’s PCP of repeat screen results within 3 business days of
                                  receiving results, and 3) notify baby’s PCP if repeat screen not obtained before infant is 5
                                  days (120 hours) old.

  Discharged infant did not       • Ensure that parents complete religious waiver
receive all mandated tests due
     to religious reasons         • Send signed religious waiver to ISDH NBS Program
  Protocols for Infants
Who Did Not Receive a NBS
                             Required Actions –
                         Infant Did Not Receive NBS


 Reason Infant Did Not Receive NBS                                Required Action(s)

                                                     • Immediately contact the responsible physician
                                                     and infant’s mother by telephone to notify him/her
                                                     that a NBS specimen is required (specimen must
                                                     be collected within 3 business days).
                                                     • Send written documentation of the need for a
       Discharged prior to receiving NBS             NBS to the responsible physician and infant’s
                                                     mother.
                                                     • Immediately send written notification to ISDH.
                                                     • If responsible physician cannot be contacted or
                                                     will not collect NBS specimen, contact ISDH.
                                                     • Birthing hospital should receive copy of NBS
Transferred to another hospital prior to receiving   results within 7 days.
                      NBS                            • Contact hospital to which infant was transferred if
                                                     no NBS results are received within 7 days.
Reporting to ISDH – Heel Stick
         Reporting to ISDH – Heel Stick

• Birthing facilities should complete & submit the
  Monthly Summary Report (MSR) to ISDH

  – MSRs are due by the 15th of the following month
     • For example, January’s MSR is due before February 15th


  – Completed MSRs should include the following:
     • Cover sheet – Contact information & statistics
     • Heel Stick Exception Reporting Form (2 PAGES)
        – PAGE 1: infant data (includes transfer & exception codes)
        – PAGE 2: mother & PCP data
        – Attach copy of signed Religious Waiver if parents refused NBS based
          on religious reasons
MSR – Cover Sheet (Demographic & Summary
                   Data)
MSR – Heel Stick Exception Reporting
    Form, PAGE 1 (infant data)
   MSR – Heel Stick Exception Reporting Form, PAGE 1
                         (cont.)

• A few notes:

  – Each infant reported as an exception MUST have a
    transfer code AND an exception code

  – Children born at the end of a month, who are screened at
    the correct time, do NOT need to be reported as
    exceptions anymore
     • Formerly “Initial Screen Next Month” exceptions


  – Birthing facilities are responsible for notifying ISDH NBS
    Program IMMEDIATELY by phone if a child is discharged
    without an initial NBS
MSR – Heel Stick Exception Reporting
 Form, PAGE 2 (mother & PCP data)
      Indiana Newborn Screening
     Tracking & Education Program
               (INSTEP)
• ISDH won a $1.2 million, 3-year federal grant
  from HRSA in September 2009

• Funding from this grant used to develop
  INSTEP
  – Includes web-based INSTEP application
     • Used by birthing facilities, health care providers, PHNs,
       & ISDH staff to data related to NBS and follow-up
               INSTEP (cont.)

         2011 INSTEP MSR trainings

  – March 22nd, Parkview Hospital (Fort Wayne)
  – April 14th, Columbus Regional Hospital
    (Columbus)
  – May (TBD), Porter Hospital (Valparaiso)
  – September 22nd, Deaconess Hospital (Evansville)
  – October (TBD), Indianapolis


• Watch your e-mail for more information!
                 INSTEP (cont.)

                 IMPORTANT!
• The MSR form changed to match the
  information requested in INSTEP

  – New MSR form was distributed to all birthing
    facilities via e-mail in November 2010

  – All birthing facilities required to use new MSR
    form beginning December 2010
              INSTEP (cont.)
• For more information about INSTEP
  (including the new MSR form & information on
  trainings), please contact:

     Courtney Eddy, MS, CGC, LGC, MT(ASCP)
                 INSTEP Director
               CEddy@isdh.IN.gov
                  317.233.9260
Cost of Newborn Screening
             Cost – Initial & Repeat NBS


• Parents are billed for the initial newborn
  screen
  – Cost of initial NBS: $85.00 (effective July 1,
    2008)

• There is no charge for re-screens if baby
  receives repeat NBS at same hospital where
  baby born
                    Cost of Confirmatory Testing


•   Most insurance plans will pay for confirmatory
    testing

•   Medicaid will pay for confirmatory testing, if mother
    had Medicaid during pregnancy

•   If mother has no insurance coverage:
    –   She should immediately apply for Medicaid and take
        baby back for testing
        •   Medicaid will pay retroactively
Refusal of Newborn Screening
                 Refusal of NBS
• NOTE: Parents can legally refuse newborn
  screening (NBS) only due to religious reasons.

• If parents refuse NBS, hospital staff/midwife should:

  – Have parents complete religious waiver

  – Send signed religious waiver to ISDH NBS Program
       Part II

     Early Hearing
Detection & Intervention
        (EHDI)
   Early Hearing Detection and
       Intervention (EHDI)

• Three main components to the EHDI process:

  – Universal Newborn Hearing Screening (UNHS)

  – Diagnostic audiology assessment
     • For those infants who did not pass UNHS or have risk factors for
       hearing loss


  – Enrollment in early intervention services (First Steps
    and/or private services)
     • For those infants identified with permanent hearing loss
Why is Hearing Screening
       Mandated?
* Hearing loss is the condition most commonly
       detected at or shortly after birth *
40
35
30
25                               Hearing loss
                                 Down syndrome
20
                                 Spina bifida
15                               PKU
10
 5
 0
    Why is Hearing Screening
       Mandated? (cont.)


• Early identification & intervention help improve
  speech, language, social, & academic development

• Early intervention enables parents to make timely &
  informed decisions
         Goals of ISDH EHDI Program

• Increase the number of babies receiving UNHS

• Reduce number of infants for whom no screening
  data is received at ISDH

• Remember...
  – UNHS before 1 month of age
  – Diagnosis before 3 months of age
  – Early intervention before 6 months of age
                  Roles in the EHDI Process
       Entity                                               Role(s)
                       • Train & support hospital screening programs
                       • Track all babies referred for appropriate diagnosis & management
       ISDH            • Provide families with support


                       • Conduct Universal Newborn Hearing Screen (UNHS) for all newborns prior to
                       discharge
                       • Re-screen any infant who did not pass initial screening (UNHS) in one or both
                       ears
                       • Ensure that infants who are discharged without UNHS return before 1 month of
                       age for screen
Hospitals & Midwives   • Inform PCP about screening results
                       • If baby does not pass the re-screening, schedule follow-up diagnostic testing
                       prior to discharge
                       • Provide each family with UNHS results and copy of Hearing Screening
                       Results (See back of the Who, What, Why brochure)
                       • Report to ISDH all babies who 1) were not screened; 2) did not pass UNHS; or
                       3) passed UNHS, but had one or more risk factors for hearing loss
                       • Assist ISDH in locating families of infants lost to follow-up who 1) need an initial
                       hearing screen or re-screen, 2) need diagnostic assessment, and/or 3) need
                       follow-up due to risk for delayed-onset hearing loss
Public Health Nurses   • Educate families about importance of UNHS
       (PHNs)          • Ensure that parents who refuse NBS for religious reasons sign religious waiver
                       (return to ISDH)
                       • Assist ISDH in obtaining necessary follow-up services for families
UNHS Screening Techniques
  Screening Techniques –
          UNHS

• Automated auditory brainstem response (AABR)

• Oto-acoustic emissions (OAE)



** Note: Parents want confident, knowledgeable screeners. Some parents
 may wish to be with their child when UNHS is performed – this should be
                           offered when possible.
      Screening Techniques –
Auditory Brainstem Response (ABR)

• Sounds are presented
through earphones

• Surface electrodes
measure brainstem
activity in response to
sound

• Average test time: 20
min/baby
   Screening Techniques –
Oto-acoustic Emissions (OAE)


                • Sounds are presented
                to the ear canal
                • Small microphone
                measures the cochlear
                response in the ear canal
                • Average test time:
                5 – 15 min/baby
Effective Screening Practices
Effective Screening


• DO NOT SCREEN REPEATEDLY

• Remember your goal is not to pass every baby

• A baby with a hearing loss may falsely pass with
  multiple screenings

• Screening repeatedly is not cost effective or time
  efficient
 Effective Screening

• Quiet Environment is important
• Keep conversation to a minimum
• Post signs to alert staff that a screening is
  taking place
• Screen away from noisy areas
• Move away from noisy equipment
• Move to a quieter location if possible
Possible Results of UNHS
     Possible Results - PASS

• Screeners should tell parents:

  – “Your baby’s hearing is adequate for the
    development of normal speech & language skills.”
  – “You should continue to monitor your child’s
    speech & language development.”
  – “Talk to your baby’s doctor if you are worried
    about your baby’s hearing or speech
    development.”
               Possible Results –
                 DID NOT PASS
              (in one or both ears)
• Screeners should tell parents:
   –   “Your baby did not pass his/her hearing screen in one/both ears.”
   –   “This might have happened for several reasons.”
   –   “This does not mean that your baby has permanent hearing loss.”
   –   “Your baby needs a diagnostic hearing test, done by an audiologist, in
       order to determine how your baby hears.”
• Screeners should give parents a copy of “What If Your Baby
  Needs More Hearing Tests?”
• Words matter-Do not use words like “failed”
• Babies who do not pass UNHS should be:
   – Reported to ISDH EHDI Program
   – Scheduled for diagnostic testing at a Level 1 Audiology Center
   – Referred/Reported to the PCP
        Possible Results –
   PASS, but has RISK FACTORS
• Screeners should tell parents:
   – “Your baby passed his/her hearing screen in both ears, but has a risk
     factor.”
   – “Your baby’s risk factor is _____________.”
   – “This does not mean that your baby has permanent hearing loss.”
   – “Your baby should have more testing between 9 and 12 months of
     age, or sooner if there are concerns

• Screeners should give parents a copy of “What If Your Baby
  Needs More Hearing Tests?”

• Babies who have a risk factors for hearing loss should be:
   – Reported to ISDH EHDI Program
   – Reported to their PCP for referral to a pediatric audiologist at 9-12
     months of age (earlier if there are immediate concerns)
Risk Factors
for Hearing
    Loss
   Family History of Congenital /
     Childhood Hearing Loss

• Includes family members with hearing loss in
  one/both ears since childhood
  – Can be due to known genetic cause or unknown cause

• Excludes history of middle ear infections and/or
  tubes

• Excludes family members with known, non-genetic
  causes of hearing loss
  –   Exposure to rubella
  –   Meningitis
  –   Exposure to loud noise
  –   Trauma
               In Utero Infection
• Includes conditions from TORCH screen
   – Toxoplasmosis
      • Most commonly affects babies whose mothers were exposed
        during 1st trimester
   – Other
      • Group beta strep (GBS)
      • Syphilis
           – Baby can be treated prior to delivery
   – Rubella
      • Most commonly affects babies when exposure occurs during 1st
        trimester
   – Cytomegalovirus (CMV)
      • Can be transmitted during pregnancy (placenta), during delivery
        (birth canal), or postnatally (breast milk)
   – Herpes Simplex Virus (HSV)
      • Most commonly affects babies whose mothers have active
        infection during delivery
        Hyperbilirubinemia



• Risk factor for hearing loss when bilirubin
  levels exceed indication for exchange
  transfusion
        Cranio-facial/Ear Malformations



• Babies who cannot be screened at the hospital due
  to no ear, partial ear, or no ear canal opening should
  be immediately referred to audiology and their PCP
  for diagnostic testing

• Babies with craniofacial anomalies who pass the
  screen should be referred for follow-up at 9-12
  months of age
  Referrals for Infants with Risk
              Factors

• Babies with any of the 4 previous risk factors must
  be reported to the ISDH EHDI Program
  – These children should receive follow-up testing from an
    audiologist around 9-12 months of age

• Families should be:
  – Informed about which risk factor(s) was/were identified
  – Be provided with hearing & language developmental
    milestones
     • Told to monitor their child’s progress
  – Referred to ISDH & their PCP
  – Be informed of the importance of follow-up testing
                 Other Risk Factors
• Infants who have one of the following risk factors
  should be referred to their PCP:

  – Spent > 5 days in the Neonatal Intensive Care Unit (NICU)

  – Have a genetic condition or syndrome known to be
    associated with an increased risk for hearing loss

  – Have or had bacterial meningitis (infection around brain &
    spinal cord caused by bacteria)

  – Have a parent or caregiver who is concerned about the
    baby’s hearing and/or language development
Reporting UNHS Results
                Reporting UNHS Results
• On NBS blood spot card:
   – Complete all UNHS data on blood spot card
      • NOTE: Do not delay sending blood spot card in order to complete UNHS
        information
          – If UNHS not complete before blood spot card is ready, tear out pink sheet
            from blood spot card for submission at a later date. Send blood spot card to
            NBS laboratory.


• On Monthly Summary Report (MSR) for ISDH, report all
  babies who:
   – Did not receive UNHS for any reason
      • Attach signed Religious Waiver(s) if applicable
   – Did not pass UNHS
   – Passed UNHS, but have at least one risk factor for delayed-onset
     hearing loss
  Why Are Blood Spot Card & MSR
            Required?

• ISDH requires birthing facilities to submit
  blood spot cards and MSRs in order to:

  – Cross-check to ensure that hearing screen data is
    received for all babies

  – Improve the accuracy of data reporting

  – Improve the timeliness of follow-up
      EHDI / UNHS Exception Reporting

• Report to ISDH all babies who:

  – Were transferred into / out of your birthing facility

  – Were not screened for any reason (include copies of
    signed Religious Waivers, if applicable)

  – Did not pass UNHS & require diagnostic audiology
    evaluations

  – Passed UNHS, but had risk factor(s) for delayed-onset
    hearing loss
Follow-up Services
       Services Provided for Referred
                  Infants

• Diagnostic audiologic testing to confirm hearing status
   – Should be performed at Level 1 Audiology Center
       • These locations have pediatric experience & equipment necessary
         to perform diagnostic testing
       • List of locations available on ISDH EHDI website
• Enrollment in early intervention services
   – For infants with confirmed hearing loss
• Appropriate follow-up
   – Includes appropriate amplification or treatment
• Financial coverage of EHDI follow-up services:
   – Medicaid & Children’s Special Health Care Services: Funding for
     diagnostic services can be obtained for families who qualify financially
   – Private insurance: Some insurance companies will cover diagnostic
     audiology services. Families should contact their insurance carrier to
     determine covered services & identify providers.
             Roles in the EHDI Follow-Up Process
         Entity                                                  Role(s)
                            • Track & follow each infant referred to achieve national 1 – 3 – 6 goals
                            • Provide educational & technical assistance to birthing facilities, families,
          ISDH              audiologists, physicians, & early intervention providers
                            • Train EHDI Regional Consultants, Service Providers, Hospitals, Physicians


                            • Provide technical assistance, training, & consultations to hospitals, families, &
                            community agencies
EHDI Regional Consultants   • Serve as resource to ensure that children with hearing loss receive appropriate
                            & timely care




       First Steps          • Provide coordination of follow-up services for children with diagnosed hearing
                            loss



                            • Assist ISDH in locating families of infants lost to follow-up who 1) need an initial
                            hearing screen or re-screen, 2) need diagnostic assessment, and/or 3) need
  Public Health Nurses      follow-up due to risk for delayed-onset hearing loss
         (PHNs)             • Educate families about importance of UNHS
                            • Assist ISDH in obtaining necessary follow-up services for infants
         EHDI Regional Consultants

                              Phone
Region       Name
                              Number
          Valari Koziel &
  1                         (219) 933 – 2094
           Evelyn Sell
                            (765) 608 – 3277
          Sherry Hodge
  2        Jamie Beck       (260) 426-8117

  3      Michelle Escobar   (317) 733 – 2285


  4         Molly Pope      (317) 233 – 1264

          Julia Balbach &
  5                         (812) 479 – 1411
           Jayne Fields

  6         Jay Cherry      (812) 523 – 3323
        How is Indiana Doing?




2009 Outcome Statistics for Heel Stick &
          Hearing Screening
                  2009 Heel Stick Screening
                         Statistics
• Approximately 89,000 births in Indiana

  – 98.2% of infants received initial newborn screens

  – 81 infants were confirmed to have a metabolic disorder
  – 47 infants were confirmed to have an endocrine disorder

  – 26 infants were confirmed to have a hemoglobinopathy

  – 26 infants were confirmed to have cystic fibrosis

  – 100% of infants with confirmed cases received treatment and
    follow-up
  2009 Indiana Hearing Screening Statistics

• Approximately 89,000 births

• 103 birthing facilities reported
   • 98.7% of babies were screened

   • 2.3% were referred for diagnostic audiology evaluations
      • 81.3% had normal hearing results
      • 6.2% (124 children) were diagnosed with permanent hearing loss
      • 7.4% were lost to follow-up/documentation


   • Additional 30 babies who were born in 2009 were
     identified with hearing loss in 2009

   • Additional 67 babies who were born before 2009 were
     identified with hearing loss in 2009
      2009 Indiana Diagnostic Statistics

• 87.6% of children born in 2009 received follow-up
  – 0.6% of these children have been evaluated but need
    additional testing
  – 1.4% moved out of state
  – 0.5% are deceased
  – 2.5% had families who declined follow-up
  – 7.4% LTF/D


• Mean age of first evaluation: ~ 3 months (88.2 days)
  – Median age of first evaluation: ~ 2 months (56 days)


• Mean age of diagnosis: ~ 3 months (93.7 days)
  – Median age of diagnosis: ~ 2 months (58 days)
    Contact Information for ISDH
    Newborn Screening Program
• Director of Genomics and Newborn Screening
   • Bob Bowman

• Heel-stick Program
   –   INSTEP Director – Courtney Eddy
   –   Sickle Cell Program Director – Lisa Mani
   –   Genomics & Cystic Fibrosis Programs Director – Malorie Hensley
   –   Newborn Screening Data Quality Specialist – Iris Stone

• Early Hearing Detection and Intervention (EHDI) Program
   –   State EHDI Director – Gayla Hutsell Guignard
   –   EHDI Follow-Up Coordinator- Julie Schulte
   –   UNHS Nurse Consultant – Bess Godard
   –   Lead Audiology Regional Consultant – Molly Pope
   –   Guide By Your Side Program Coordinator- Lisa Kovacs
   –   EHDI Parent Consultant – Julie Swaim

• To contact the ISDH Newborn Screening Program:
   – Call (888) 815-0006
   – Visit the ISDH Newborn Screening website at http://www.NBS.IN.gov
      Public health nurses                      Primary care physicians
                                                   & other health care
                                                        providers




                                 Newborn
Hospitals & hospital            Screening:                   ISDH
    personnel
                             It takes a team!



            IU Newborn                        Early intervention
        Screening Laboratory                providers (First Steps)

				
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