An introduction to indiana s newborn screening program
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An Introduction to Indiana’s Newborn Screening Program. Maternal and Children’s Special Health Care Services Genomics and Newborn Screening Program. Why Do Newborn Screening?. Required by Indiana law (Indiana Code 16-41-17) Early detection & early treatment of newborn screening disorders:

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An Introduction to Indiana’s Newborn Screening Program

Maternal and Children’s Special Health Care Services

Genomics and Newborn Screening Program


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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


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ISDH Newborn Screening Program

  • Main components of the ISDH Newborn Screening Program:

    • Heel Stick Program

      • 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 Program (EHDI)

      • Includes Universal Newborn Hearing Screen


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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


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PartI

Heel Stick Screening


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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


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History of Newborn Screeningin 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)


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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)


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Heel Stick Screening Follow-up

  • Follow-up consists of actions to ensure that:

    • Every newborn receives a valid newborn screen

    • Any newborn with abnormal or invalid screening results receives appropriate follow-up

    • Any newborn who is confirmed to have one of the designated genetic conditions receives appropriate treatment and family counseling


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Early Hearing Detection & Intervention(EHDI)

Part II


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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)

      • For those infants identified with permanent hearing loss


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Why is Hearing Screening Mandated?

* Hearing loss is the condition most commonly detected at or shortly after birth *


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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


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Professional Awareness of UNHS

  • Surprisingly low recognition of the prevalence and consequences of hearing loss in infants

  • Many physicians are unaware of:

    • Advances in technology

    • Testing methods

  • Medical home

    • Primary care physician (PCP) is responsible for overall medical well-being of child

      • PCP needs to be informed about screening results, any risk factors, and issues related to follow-up


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National & State Goals for EHDI

  • Screen before 1 month of age

  • Diagnosis before 3 months of age

  • Intervention before 6 months of age


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History of UNHS in Indiana

  • 1994: Less than 18% of hospitals provided UNHS using a high-risk registry

  • 1999: Newborn Screening law amended to include UNHS

  • 2000: Full implementation of UNHS was required

  • 2001: 100% of Indiana hospitals provided screening babies for hearing loss


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Screening Techniques – UNHS

  • Automated auditory brainstem response (AABR)

  • Oto-acoustic emissions (OAE)


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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


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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


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How Well is Indiana Doing?2006 Outcome Statistics for Heelstick & Hearing Screening


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2006 Heelstick Screening Statistics

  • Approximately 88,000 births in Indiana

    • 99.95% of infants received initial newborn screens

    • More than 98% received complete and valid screens

    • 121 infants were confirmed to have metabolic or endocrine disorders

    • 100% of infants with confirmed cases received treatment and follow-up


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2006 Hearing Screening Statistics

  • Approximately 88,000 births

    • 97.8% babies were screened

    • 1.9% were referred for diagnostic audiology evaluations

      • 73% had normal hearing results

      • 7% were diagnosed with permanent hearing loss

    • An additional 47 babies (born prior to 2006) were identified with hearing loss in 2006


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2006 Hearing Screening Statistics (cont.)

  • In 2006, 1.3 babies per 1,000 births received a diagnosis of hearing loss

  • Average age of identification in Indiana:

    • 4 – 5 months for babies screened before leaving the hospital

  • U.S. average age at diagnosis without UNHS:

    • 13 months for babies with severe hearing loss

    • 22 months for babies with mild – moderate hearing loss


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Primary care physicians & other health care providers

Public health nurses

IU Newborn Screening Laboratory

ISDH

Early intervention providers (First Steps)

Hospitals & hospital personnel

Newborn Screening: It takes a team!


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Contact Information for ISDH Newborn Screening Program

  • Director of Genomics and Newborn Screening

    • Bob Bowman

  • Heel Stick Program

    • Heel Stick Program Director – Iris Stone

    • Sickle Cell Program Director – Lisa Mani

    • Cystic Fibrosis Program Director – Connie Burrus

  • Early Hearing Detection and Intervention (EHDI) Program

    • State EHDI Coordinator – Gayla Hutsell Guignard

    • UNHS Nurse Consultant – Bess Godard

    • Lead Audiology Regional Consultant – Molly Pope

    • EHDI Parent Consultant – Leslie Hine

  • To contact the ISDH Newborn Screening Program:

    • Call (888) 815-0006

    • Visit the ISDH Newborn Screening website at http://www.NBS.IN.gov


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Next Steps

  • Hospital staff and midwives should view the training titled “Newborn Screening Training for Hospitals and Midwives”

  • Public health nurses should view the training titled “Newborn Screening Training for Public Health Nurses”

  • Both trainings are followed by a mandatory post-test