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 Mass Spectrometry • 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 Tryrosinemia & 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 concerninggenetic 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 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 information

15. Reporting - MSR • Due by the 15th of each month • MSR Report consists of 2 pages Data page Reason code page • Printed instructions available

16. Reporting - MSR • Use information gathered from NBS Log • Attach with MSR a copy of religious waiver if parents refuse screening • Completeness

17. MSR: Common Errors • Reason code errors • MSR data errors • Missing data or incomplete data • Wrong form completed

18. 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

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

20. 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.

21. 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.”

22. 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 and safe tests are available

23. 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

24. 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

25. 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

26. 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 • Report all that do not pass two screens and all that are at risk for delayed onset hearing loss to the First Steps for 1. Diagnostic evaluation 2. Early intervention

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

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

29. 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

30. When the Baby Passes • Explain screening process • Give family the certificate • Recommend parents keep records of screening results • Provide parents with local resources if concerns arise regarding speech/language/development

31. When the Initial Screen Is Not Passed Complete re-screen prior to discharge

32. When the Baby Does Not Pass • Inform parents of screening results and the need for referral • Give parents referral brochure and certificate • Report the findings to the PCP and First Steps • Complete MSR follow-up report

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

34. When a Baby Has A Risk Factor And Passes the Screening • Explain the results • Inform the parents about PMP and First Steps referral • Discuss the importance of monitoring speech/language process • Complete MSR/Follow-up Report

35. When a Baby Has A Risk Factor And Does not Pass Screening Treat as a baby who does not pass

36. 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

37. 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 for this to be completed in a timely manner (before the age 3 months) • Provide the family with the referral brochure and inform them about First Steps Early Intervention Program

38. MSR Report • MSR Data: Due Date 15th Each Month • MSR Report Consists of 3 Pages: Data Page Reason Code Page Follow-up Page • Printed Instructions Available • Attach with MSR A Copy of Religious Waiver if Parents Refuse Screening

39. MSR: Common Errors • Reason Code Errors • Follow-Up Code Errors • Referral Errors • MSR Data Errors • Missing Data or Incomplete Data • Re-screens Errors • Date of Newborn Screen Not Completed • Wrong Form Completed • No Data on High Risk Infants

40. Other Barriers • Parents not receiving brochures, materials and explanations • Transfers to other facilities • Insufficient documentation • Failure to link with local resources upon hospital discharge • Out of county/out of state births • Out of county/out of state referrals

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 provider for reimbursement • Waiver of informed consent

42. First Steps Responsibilities • Ensure appropriate diagnostic evaluation for all babies in need • Assist ISDH with tracking of babies identified with hearing loss • Provide follow-up for children at risk of delayed onset hearing loss

43. Medical Homes • The primary medical physician is responsible for overall medical well being of the child • Need to be informed about screening results/risk factors, and follow up issues • Important member of the team for the best long term outcomes

44. Regional Consultants • Six Consultants • Provide technical assistance, training, and consultation to hospitals, families and community agencies • Resource to ensure appropriate and timely care for children with hearing loss

45. 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

46. Meconium Screening Program Community and Family Health Services Commission Indiana State Department of Health

47. Meconium Screening Program Newborn Screening Program• Permanent Law• Universal Screening• Invasive Procedure• Parents May Refuse• IU Newborn Screening Lab• Funded by Hospital/patient• Centralized Patient Follow-up • Established Standard of Care Meconium Testing Program • Pilot Program • Selected Screening• Non-invasive Procedure• Refusal Not Allowed• AIT Laboratory• Funded by State If Criteria Met• Follow-up by Physician – No Individual Follow-up by State• No General Standard of Care

48. Why Meconium Testing • It is legislatively mandated (PL-291/2001) • Drug abuse during pregnancy is a major health problem. Early recognition, proper treatment, and follow-up to maximize the child’s development is imperative since intrauterine drug exposure is associated with mild to severe developmental delay, central nervous system damage, and behavioral dysfunction.

49. Mission Statement • To identify drug afflicted infants for referral to appropriate intervention and protection programs. • To collect information on the incidence of drug abuse during pregnancy.

50. State Criteria • The newborn’s weight is less than 2500 grams and the head is smaller than the 10th percentile for the infant’s gestational age when there is no other medical explanation for these conditions. OR