An Introduction to Indiana’s Newborn Screening Program

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. PartI Heel Stick Screening

6. 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

7. 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)

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)

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

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. 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

26. 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!

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.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