Newborn Screening Program (NBS)

1. Newborn Screening Program (NBS) Community and Family Health Services Commission Indiana State Department of Health

2. 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

3. MS/MS: Tandem MassSpectrometry --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

4. 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

5. 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.

6. 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”

7. 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.”

8. Newborn Screening Process Protocols • Initial screening • Normal result • Invalid screen • Abnormal Result • Presumptive positive • Positive cases

9. 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.

10. 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.

11. Newborn Screening Process Video • How to conduct valid NBS test

12. Newborn Screening Process Centralized follow-up system • Invalid screen • Abnormal Result • Presumptive positive • Confirmed positive

13. ISDHRESPONSIBILITIES • 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.

14. 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

15. 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.”

16. 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

17. PHN Responsibilities If applicable • Collect blood sample and send to IU-NBS Lab . Properly collect specimen . Properly handle and transport specimen

18. PHN Responsibilities If parents refuse based on religious reasons Have them complete religious waiver send to ISDH

19. 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

20. 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

21. Indiana Newborn Hearing Screening Children and Family Health Services Commission Indiana State Department of Health

22. 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.

23. 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.”

24. 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

25. How Are Babies Tested • Two procedures • Automated ABR • Oto-acoustic Emissions

26. Auditory Brainstem Response • Band-aid-like electrodes • Earphones • Clicks are presented • Measures the brain’s response to sound

27. Oto-acoustic Emissions • Miniature earphone and microphone • Clicks are heard • Ear echoes back and is recorded by the microphone

28. Both are reliable and accurate • Some hospitals use one method • Some hospitals use a combination

29. 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

30. 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

31. 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)

32. 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

33. 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

34. Hospital Responsibilities • Report to ISDH 1. Non-compliance 2. Inability to contact families 3. Change of information

35. Basic Protocol • Provide UNHS brochure to all parents • Explain how, when, where, duration, of the screening process to all parents

36. 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

37. What Are Risk Factors • Family history of congenital hearing loss • Congenital infection (Herpes, Cytomegalovirus, Rubella, Syphilis, Toxoplasmosis) • Hyperbilirubinemia/Tranfusion

38. 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)

39. 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

40. 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

41. 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

42. 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

43. 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

44. Steuben • Cameron Mem Hosp • Elkhart • Elkhart • Gen Hosp • Goshen • Gen Hosp • Lake • Comm Hosp of Munster • Methodist Hosp Gary • Methodist Hosp Merrillville • Saint Anthony Med Cen of Crown Point • Saint Catherine Hosp of East Chicago • Saint Margaret Mercy –Hammond • Saint Margaret Mercy –Dyer • Saint Mary's Med Cen - Hobart • LaPorte • LaPorte Hosp • St Anthony Hosp Mich City • LaGrange • LaGrange Hosp • St. Joseph • Ancilla Health Care • Mem Hosp – South Bend • St Joseph Med Cen – South Bend St. Joseph • Porter • Portage Comm Hosp • Porter Mem Hosp Lake • Noble • Parkview Noble Hosp • DeKalb • DeKalb Mem Hosp • Marshall • CommHos • St Joe Hos Marshall Co • Kosciusko • Kosciusko Comm Hosp • Starke • Starke Mem Hosp Map of Indiana - Outreach • Whitley • Whitley Mem Hosp • Allen • Lutheran Hosp • Parkview Mem • St Joe Med Cen – Ft Wayne • Jasper • Jasper Co Hosp • Fulton • Woodlawn Hosp • Pulaski • Pulaski Mem Hosp New ton • Wells • Bluffton Med Center • Caylor-Nickel Hosp • Miami • Dukes Mem Hosp Wabash Wabash Co Hosp • Hunt- • ington • Parkview Health Center • White • White Co Mem Hosp • Cass • Logansport Mem Hosp Wells • Adams • Adams • Co Mem Hosp • Howard • Howard Comm Hosp • St Joe Hosp/Health Care Ctr - Kokomo Benton Carroll Grant Marion Gen Hosp • Blackford • Blackford Co Hosp • Tippecanoe • Lafayette Home Hosp Black ford • Jay • Jay Co Hosp Howard Warren • Vermillion • West Central Community Hosp • Tipton • Tipton Co Mem Hosp • Clinton • St Vincent Franklin Hos M a d i s o n • Delaware • Ball Mem Hosp • Madison • Community Hosp of Anderson • St John Med Center • St Vincent Mercy Hosp – Elwood • Randolph • St Vincent Randolph Hosp Fountain • Montgomery • St Clares Med Center • Hamilton • Riverview Hosp V e r m i ll i o n • Morgan • Morgan Co Mem Hosp • St Francis Hosp Mooresville Boone • Henry • Henry Co Mem Hosp • Wayne • Reid Hosp & Health Care Ctr • Hancock • Hancock Mem Hosp • Hendricks • Hendricks Comm Hosp Marion Parke • Marion • Columbia Women's Hosp of Indpls • Community Hosp of Indpls 1-East, 2-North, 3-South • Methodist Hosp Indpls • Nurse Midwives • Riley Hosp - Data Management Off. • St Francis Hosp. Center • St Vincent Hosp & Health Care Center • Wishard Mem Hosp • University Hospital • Putnam • Putnam Co Hosp Fayette Fayette Mem Hosp Rush Union • Vigo • Columbia Terre Haute • Union Hosp – Terre Haute • Shelby • Major • Hosp • Johnson • Johnson Mem Hosp • Clay • St • Vincent Clay Co Morgan Vigo Franklin • Decatur • Decatur Mem Hosp Owen • Monroe • Bloom ington Hosp • Barthol • omew • Columbus Reg Hosp • Dubois • Memorial Hosp & Health Care – Jasper • St Joseph Hosp – Deaconess – Huntingburg • Sullivan • Sullivan Co Comm Hosp Dearborn Brown • Ripley • Margaret Mary Comm Hosp • Greene • Greene Co Gen Hosp Jennings • Jackson • Memorial Hosp Seymour • Lawrence • Bedford Medical Ctr • Dunn Mem Hosp Ohio • Jefferson • King’s Daughters Hosp Knox Good Samaritan Hosp Switzerland • Dearborn • Dearborn Hosp • Daviess • Daviess Co Hosp Martin • Washington • Wash. Co Mem Hosp • Orange • Bloomington Hosp of Orange Co Scott • Scott • Scott Co Mem Hosp • Clark • Clark Mem Hosp • Vanderburgh • Deaconess Hosp • St Mary’s Med Center Evansville • St Mary’s Riverside Hosp Pike • Gibson • Gibson Gen Hosp Dubois Crawford Floyd • Harrison • Harrison Co Hosp • Floyd • Floyd Mem Hosp • Perry • Perry Co Mem Hosp Warrick Vander burgh Posey Spencer

45. UNHS Consultants • Six consultants • Funded through a federal grant to ISDH • Contracted through Indiana School for the Deaf • Implement outreach activities across the State

46. 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

47. 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

48. 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

49. 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

50. 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