1. An Introduction to Indiana’s Newborn Screening Program Maternal and Children’s Special Health Care Services Genomics and Newborn Screening Program

2. 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

3. 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

4. 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

5. Part I Heel Stick Screening

6. 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

7. 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)

8. 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)

9. Roles in the Heel Stick Process EntityRole(s) ISDH Ensure that mandated NBS is properly conducted Ensure that appropriate diagnosis & management of affected newborns occur Designate & contract with state NBS laboratory Hospitals 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 if babies are discharged before receiving NBS, infants who need repeat screens cannot be contacted, or 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 Midwives Alert parents about newborn screening Collect a heel stick sample directly or refer family to appropriate physician/facility for heel stick collection If family refuses NBS based on religious reasons, have parent(s) sign religious waiver Notify ISDH NBS Program if an infant has not received a screen Notify ISDH NBS Program within 3 days of receiving NBS results Public Health Nurses (PHNs) 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 If parent(s) unable to get baby to hospital for repeat NBS, collect NBS specimens if trained & certified

10. 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

11. Early Hearing Detection & Intervention (EHDI) Part II

12. 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

13. Why is Hearing Screening Mandated? * Hearing loss is the condition most commonly detected at or shortly after birth *

14. 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

15. 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

16. National & State Goals for EHDI Screen before 1 month of age Diagnosis before 3 months of age Intervention before 6 months of age

17. 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

18. Roles in the EHDI Process EntityRole(s) ISDH Train & support hospital screening programs Track all babies referred for appropriate diagnosis & management Provide families with support Hospitals & Midwives 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 Provide each family with UNHS results and copy of Hearing Screening Certificate Ensure that infants who are discharged without UNHS return before 1 month of age for screen 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 Public Health Nurses (PHNs) 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 Educate families about importance of UNHS 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

19. Screening Techniques – UNHS Automated auditory brainstem response (AABR) Oto-acoustic emissions (OAE)

20. 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

21. 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

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

23. 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

24. 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

25. 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 2006 Hearing Screening Statistics (cont.)

26. Newborn Screening: It takes a team! Hospitals & hospital personnel ISDH Primary care physicians & other health care providers Public health nursesEarly intervention providers (First Steps) IU Newborn Screening Laboratory

27. 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.govhttp://www.NBS.IN.gov

28. 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