1. Hospital & Midwives Training Maternal and Child Health Genomics and Newborn Screening Program

2. Introduction to Indiana’s Newborn Screening Program

3. 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

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. 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)

6. Indiana’s Newborn Screen Two parts: –Heel Stick Screening 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 (EHDI) Includes Universal Newborn Hearing Screen

7. Part I Heel Stick Screening

8. 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

9. 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. 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 immediately if babies are discharged before receiving NBS Notify IU NBS lab if infants who need repeat screens cannot be contacted Notify IU NBS lab and ISDH if 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 & submit religious waiver to ISDH NBS Program 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

11. Newborn Screening Log All birthing facilities should maintain a Newborn Screening Log which documents the following information for all infants: –Specimen collection date –Specimen submission date –Date NBS results were received –Results of NBS

12. Heel Stick Procedure NOTE: The following procedures are modified from the heel-stick procedures slides provided by the New York State Department of Health

13. Heel Stick Procedure Step 1 Equipment: –Sterile lancet with tip appropriately 2.0 mm - sterile alcohol prep –Sterile gauze pads –Soft cloth –Blood spot card –Gloves

14. Blood Spot Card (front)

15. Blood Spot Card (back)

16. Heel Stick Procedure Step 2 Complete ALL information on blood spot card. –Do not contaminate filter paper circles by allowing the circles to come into contact with spillage or by touching before or after blood collection.

17. Heel Stick Procedure Step 3 Hatched areas (arrows) indicate safe areas for puncture site.

18. Heel Stick Procedure Step 4 Warm site with soft cloth moistened with warm water (up to 41 o C) for 3 – 5 minutes.

19. Heel Stick Procedure Step 5 Cleanse site with alcohol prep. Wipe DRY with sterile gauze pad.

20. Heel Stick Procedure Step 6 Puncture heel. –Wipe away first blood drop with sterile gauze pad. –Allow another LARGE blood drop to form.

21. Heel Stick Procedure Step 7 Lightly touch filter paper to LARGE blood drop. Allow blood to soak through and completely fill circle with SINGLE application of LARGE blood drop. To enhance blood flow, VERY GENTLY apply intermittent pressure to area surrounding the puncture site). Apply blood to one side of filter paper only.

22. Heel Stick Procedure Step 8 Fill remaining circles in the same manner as step 7, with successive blood drops. If blood flow is diminished, repeat steps 5 through 7. Provide care to the skin puncture site.

23. Heel Stick Procedure Step 9 Dry blood spots on a dry, clean, flat, non-absorbent surface for a minimum of four (4) hours.

24. Heel Stick Procedure Step 10 Mail completed blood spot card to IU Newborn Screening Lab within 24 hours of collection.

25. Heel Stick Procedure NOTE: Use of capillary tubes to collect heel stick specimens is NOT recommended or included as part of Indiana’s protocols

26. Valid vs. Invalid Blood Spot Specimens

27. A newborn screen is valid when: The child is at least 48 hours of age The child has been on protein feeding for at least 24 hours The NBS blood specimen is received by the NBS laboratory within 10 days of collection Valid Heel Stick Specimens

28. Valid Specimens Fill all required circles. Allow blood to soak through to other side of filter paper. Do not layer successive drops of blood. Avoid touching or smearing spots.

29. Invalid Specimens

30. Possible causes 1.Removing filter paper before blood has completely filled circle or before blood has soaked through to second side. 2.Applying blood to filter paper with a capillary tube. 3.Touching filter paper before/after blood specimen collection (with gloved/ungloved hands, lotion, powder, etc.) Specimen Quantity Insufficient for Testing

31. Possible cause 1.Applying blood with capillary tube or other device. Specimen Appears Scratched/Abraded

32. Specimen Not Dry Before Mailing Possible cause 1.Mailing specimen without drying for at least four (4) hours.

33. Specimen Appears Clotted or Layered Possible causes 1.Touching same circle on filter paper to blood drop numerous times. 2.Filling circle on both sides (front & back) of filter paper.

34. NBS Results and Required Follow-up Actions

35. Possible Results of NBS Normal –All values fall within normal range Invalid screen –Specimen does not meet criteria for valid screen Specimen > 10 days old QNS (quantity not sufficient) Abnormal result(s) –Result(s) fall outside of normal range, but are not presumptive positive –Additional testing may be required to confirm result(s) Presumptive positive result(s) –Result(s) are outside the range of normal values and suggest presence of NBS condition –Additional testing may be required to confirm result(s)

36. Heel Stick Follow-Up Guidelines (non-NICU patients) NBS ResultsRequired Action(s) Normal NBS Results Ensure that NBS results are available to PCP. Invalid NBS Results Collect specimen for repeat NBS within 5 business days of initial screen. Abnormal NBS Result(s) Collect specimen for repeat NBS within 5 business days of initial screen. Presumptive Positive Result(s) Upon notification of result from NBS lab, collect additional NBS specimen (as necessary) within 48 hours.

37. Heel Stick Follow-Up Guidelines (NICU Patients) Guideline Weight Requirement: < 2,000 g Type of TestingWhen to Collect NBS Specimen(s) Routine Retesting (for all NICU patients) 1 st specimen: 0 – 6 days 2 nd specimen: 14 days* 3 rd specimen: 30 days* Monthly thereafter until discharge Retesting due to Abnormal NBS Result Same as guidelines for non-NICU patients TPN or Amino Acid- / Carnitine-Enhanced Formula Follow routine testing guidelines For infants requiring transfusions: Pre-transfusion Collect before transfusion Follow routine testing guidelines Post-transfusion Collect before 6 days of age Follow routine testing guidelines Collect final specimen at 2 – 4 months of age Implemented October 1, 2007 *NOTE: If discharge occurs within 6 days of 2 nd or 3 rd specimen, no specimen is required at discharge.

38. NICU Specimens For presumptive positive / abnormal NBS results for any specimen drawn from a baby in the NICU, follow-up should be performed per guidelines for non-NICU patients –Abnormal: Collect repeat NBS specimen within 5 business days –Presumptive positive: Collect additional specimen within 48 hours, as requested by NBS lab Exception: congenital hypothyroidism –Babies in the NICU are at increased risk for developing delayed hypothyroidism due to the immaturity of their endocrine systems –Routine rescreening should be performed for all NICU babies per NICU guidelines Additional heel stick specimens used to check for development of delayed hypothyroidism

39. Required Follow-up Actions for Infants With Invalid Newborn Screens ReasonRequired Action(s) Infant discharged from hospital before 48 hours of age and on protein feed for < 24 hours Collect NBS specimen before discharge Repeat NBS specimen should be collected after 48 hours of age, but no later than 120 hours (5 days) after birth Notify family that repeat NBS will be required Discharged infant did not receive all mandated tests Immediately contact responsible physician & mother via phone Immediately send written notification of need for repeat NBS to responsible physician & mother Send copy of letter to ISDH NBS Program Discharged infant did not receive all mandated tests and responsible physician cannot be contacted If repeat NBS not obtained within 3 days, notify ISDH NBS Program via telephone Send written notification to ISDH via fax or certified e-mail within 3 days Discharged infant needs repeat NBS NBS laboratory will notify responsible physician & birthing facility that re-screen is needed Hospital responsibilities: 1) Notify parents to bring baby back to hospital for no-cost repeat NBS, 2) notify infant’s PCP of repeat screen results within 3 business days of receiving results, and 3) notify baby’s PCP if repeat screen not obtained before infant is 5 days (120 hours) old. Discharged infant did not receive all mandated tests due to religious reasons Ensure that parents complete religious waiver Send signed religious waiver to ISDH NBS Program

40. Protocols for Infants Who Did Not Receive a NBS

41. Required Actions – Infant Did Not Receive NBS Reason Infant Did Not Receive NBSRequired Action(s) Discharged prior to receiving NBS Immediately contact the responsible physician and infant’s mother by telephone to notify him/her that a NBS specimen is required (specimen must be collected within 3 business days). Send written documentation of the need for a NBS to the responsible physician and infant’s mother. Immediately send written notification to ISDH. If responsible physician cannot be contacted or will not collect NBS specimen, contact ISDH. Transferred to another hospital prior to receiving NBS Birthing hospital should receive copy of NBS results within 7 days. Contact hospital to which infant was transferred if no NBS results are received within 7 days.

42. Reporting to ISDH – Heel Stick

43. Birthing facilities should complete & submit the Monthly Summary Report (MSR) to ISDH –MSRs are due by the 15 th of the following month For example, January’s MSR is due before February 15 th –Completed MSRs should include the following: Cover sheet – Contact information & statistics Heel Stick Exception Reporting Form (2 PAGES) –PAGE 1: infant data (includes transfer & exception codes) –PAGE 2: mother & PCP data –Attach copy of signed Religious Waiver if parents refused NBS based on religious reasons

44. MSR – Cover Sheet (Demographic & Summary Data)

45. MSR – Heel Stick Exception Reporting Form, PAGE 1 (infant data)

46. MSR – Heel Stick Exception Reporting Form, PAGE 1 (cont.) A few notes: –Each infant reported as an exception MUST have a transfer code AND an exception code –Children born at the end of a month, who are screened at the correct time, do NOT need to be reported as exceptions anymore Formerly “Initial Screen Next Month” exceptions –Birthing facilities are responsible for notifying ISDH NBS Program IMMEDIATELY by phone if a child is discharged without an initial NBS

47. MSR – Heel Stick Exception Reporting Form, PAGE 2 (mother & PCP data)

48. Indiana Newborn Screening Tracking & Education Program (INSTEP) ISDH won a $1.2 million, 3-year federal grant from HRSA in September 2009 Funding from this grant used to develop INSTEP –Includes web-based INSTEP application Used by birthing facilities, health care providers, PHNs, & ISDH staff to data related to NBS and follow-up

49. INSTEP (cont.) 2011 INSTEP MSR trainings –March 22 nd, Parkview Hospital (Fort Wayne) –April 14 th, Columbus Regional Hospital (Columbus) –May (TBD), Porter Hospital (Valparaiso) –September 22 nd, Deaconess Hospital (Evansville) –October (TBD), Indianapolis Watch your e-mail for more information!

50. INSTEP (cont.) IMPORTANT! The MSR form changed to match the information requested in INSTEP –New MSR form was distributed to all birthing facilities via e-mail in November 2010 –All birthing facilities required to use new MSR form beginning December 2010

51. INSTEP (cont.) For more information about INSTEP (including the new MSR form & information on trainings), please contact: Courtney Eddy, MS, CGC, LGC, MT(ASCP) INSTEP Director CEddy@isdh.IN.gov 317.233.9260

52. Cost of Newborn Screening

53. Cost – Initial & Repeat NBS Parents are billed for the initial newborn screen –Cost of initial NBS: $85.00 (effective July 1, 2008) There is no charge for re-screens if baby receives repeat NBS at same hospital where baby born

54. Most insurance plans will pay for confirmatory testing Medicaid will pay for confirmatory testing, if mother had Medicaid during pregnancy If mother has no insurance coverage: –She should immediately apply for Medicaid and take baby back for testing Medicaid will pay retroactively Cost of Confirmatory Testing

55. Refusal of Newborn Screening

56. Refusal of NBS NOTE: Parents can legally refuse newborn screening (NBS) only due to religious reasons. If parents refuse NBS, hospital staff/midwife should: –Have parents complete religious waiver –Send signed religious waiver to ISDH NBS Program

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

58. 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 and/or private services) For those infants identified with permanent hearing loss

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

60. 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

61. Goals of ISDH EHDI Program Increase the number of babies receiving UNHS Reduce number of infants for whom no screening data is received at ISDH Remember... –UNHS before 1 month of age –Diagnosis before 3 months of age –Early intervention before 6 months of age

62. 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 Ensure that infants who are discharged without UNHS return before 1 month of age for screen Inform PCP about screening results If baby does not pass the re-screening, schedule follow-up diagnostic testing prior to discharge Provide each family with UNHS results and copy of Hearing Screening Results (See back of the Who, What, Why brochure) 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

63. UNHS Screening Techniques

64. Screening Techniques – UNHS Automated auditory brainstem response (AABR) Oto-acoustic emissions (OAE) ** Note: Parents want confident, knowledgeable screeners. Some parents may wish to be with their child when UNHS is performed – this should be offered when possible.

65. 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

66. 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

67. Effective Screening Practices

68. Effective Screening DO NOT SCREEN REPEATEDLY Remember your goal is not to pass every baby A baby with a hearing loss may falsely pass with multiple screenings Screening repeatedly is not cost effective or time efficient

69. Effective Screening Quiet Environment is important Keep conversation to a minimum Post signs to alert staff that a screening is taking place Screen away from noisy areas Move away from noisy equipment Move to a quieter location if possible

70. Possible Results of UNHS

71. Possible Results - PASS Screeners should tell parents: –“Your baby’s hearing is adequate for the development of normal speech & language skills.” –“You should continue to monitor your child’s speech & language development.” –“Talk to your baby’s doctor if you are worried about your baby’s hearing or speech development.”

72. Possible Results – DID NOT PASS (in one or both ears) Screeners should tell parents: –“Your baby did not pass his/her hearing screen in one/both ears.” –“This might have happened for several reasons.” –“This does not mean that your baby has permanent hearing loss.” –“Your baby needs a diagnostic hearing test, done by an audiologist, in order to determine how your baby hears.” Screeners should give parents a copy of “What If Your Baby Needs More Hearing Tests?” Words matter-Do not use words like “failed” Babies who do not pass UNHS should be: –Reported to ISDH EHDI Program –Scheduled for diagnostic testing at a Level 1 Audiology Center –Referred/Reported to the PCP

73. Possible Results – PASS, but has RISK FACTORS Screeners should tell parents: –“Your baby passed his/her hearing screen in both ears, but has a risk factor.” –“Your baby’s risk factor is _____________.” –“This does not mean that your baby has permanent hearing loss.” –“Your baby should have more testing between 9 and 12 months of age, or sooner if there are concerns Screeners should give parents a copy of “What If Your Baby Needs More Hearing Tests?” Babies who have a risk factors for hearing loss should be: –Reported to ISDH EHDI Program –Reported to their PCP for referral to a pediatric audiologist at 9-12 months of age (earlier if there are immediate concerns)

74. Risk Factors for Hearing Loss

75. Family History of Congenital / Childhood Hearing Loss Includes family members with hearing loss in one/both ears since childhood –Can be due to known genetic cause or unknown cause Excludes history of middle ear infections and/or tubes Excludes family members with known, non-genetic causes of hearing loss –Exposure to rubella –Meningitis –Exposure to loud noise –Trauma

76. In Utero Infection Includes conditions from TORCH screen –Toxoplasmosis Most commonly affects babies whose mothers were exposed during 1 st trimester –Other Group beta strep (GBS) Syphilis –Baby can be treated prior to delivery –Rubella Most commonly affects babies when exposure occurs during 1 st trimester –Cytomegalovirus (CMV) Can be transmitted during pregnancy (placenta), during delivery (birth canal), or postnatally (breast milk) –Herpes Simplex Virus (HSV) Most commonly affects babies whose mothers have active infection during delivery

77. Hyperbilirubinemia Risk factor for hearing loss when bilirubin levels exceed indication for exchange transfusion

78. Cranio-facial/Ear Malformations Babies who cannot be screened at the hospital due to no ear, partial ear, or no ear canal opening should be immediately referred to audiology and their PCP for diagnostic testing Babies with craniofacial anomalies who pass the screen should be referred for follow-up at 9-12 months of age

79. Referrals for Infants with Risk Factors Babies with any of the 4 previous risk factors must be reported to the ISDH EHDI Program –These children should receive follow-up testing from an audiologist around 9-12 months of age Families should be: –Informed about which risk factor(s) was/were identified –Be provided with hearing & language developmental milestones Told to monitor their child’s progress –Referred to ISDH & their PCP –Be informed of the importance of follow-up testing

80. Other Risk Factors Infants who have one of the following risk factors should be referred to their PCP: –Spent > 5 days in the Neonatal Intensive Care Unit (NICU) –Have a genetic condition or syndrome known to be associated with an increased risk for hearing loss –Have or had bacterial meningitis (infection around brain & spinal cord caused by bacteria) –Have a parent or caregiver who is concerned about the baby’s hearing and/or language development

81. Reporting UNHS Results

82. On NBS blood spot card: –Complete all UNHS data on blood spot card NOTE: Do not delay sending blood spot card in order to complete UNHS information –If UNHS not complete before blood spot card is ready, tear out pink sheet from blood spot card for submission at a later date. Send blood spot card to NBS laboratory. On Monthly Summary Report (MSR) for ISDH, report all babies who: –Did not receive UNHS for any reason Attach signed Religious Waiver(s) if applicable –Did not pass UNHS –Passed UNHS, but have at least one risk factor for delayed-onset hearing loss

83. Why Are Blood Spot Card & MSR Required? ISDH requires birthing facilities to submit blood spot cards and MSRs in order to: –Cross-check to ensure that hearing screen data is received for all babies –Improve the accuracy of data reporting –Improve the timeliness of follow-up

84. EHDI / UNHS Exception Reporting Report to ISDH all babies who: – Were transferred into / out of your birthing facility – Were not screened for any reason (include copies of signed Religious Waivers, if applicable) – Did not pass UNHS & require diagnostic audiology evaluations – Passed UNHS, but had risk factor(s) for delayed-onset hearing loss

85. Follow-up Services

86. Services Provided for Referred Infants Diagnostic audiologic testing to confirm hearing status –Should be performed at Level 1 Audiology Center These locations have pediatric experience & equipment necessary to perform diagnostic testing List of locations available on ISDH EHDI website Enrollment in early intervention services –For infants with confirmed hearing loss Appropriate follow-up –Includes appropriate amplification or treatment Financial coverage of EHDI follow-up services: –Medicaid & Children’s Special Health Care Services: Funding for diagnostic services can be obtained for families who qualify financially –Private insurance: Some insurance companies will cover diagnostic audiology services. Families should contact their insurance carrier to determine covered services & identify providers.

87. Roles in the EHDI Follow-Up Process EntityRole(s) ISDH Track & follow each infant referred to achieve national 1 – 3 – 6 goals Provide educational & technical assistance to birthing facilities, families, audiologists, physicians, & early intervention providers Train EHDI Regional Consultants, Service Providers, Hospitals, Physicians EHDI Regional Consultants Provide technical assistance, training, & consultations to hospitals, families, & community agencies Serve as resource to ensure that children with hearing loss receive appropriate & timely care First Steps Provide coordination of follow-up services for children with diagnosed 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 Assist ISDH in obtaining necessary follow-up services for infants

88. EHDI Regional Consultants RegionName Phone Number 1 Valari Koziel & Evelyn Sell (219) 933 – 2094 2 Sherry Hodge Jamie Beck (765) 608 – 3277 (260) 426-8117 3 Michelle Escobar(317) 733 – 2285 4 Molly Pope(317) 233 – 1264 5 Julia Balbach & Jayne Fields (812) 479 – 1411 6 Jay Cherry(812) 523 – 3323

89. How is Indiana Doing? 2009 Outcome Statistics for Heel Stick & Hearing Screening

90. 2009 Heel Stick Screening Statistics Approximately 89,000 births in Indiana –98.2% of infants received initial newborn screens –81 infants were confirmed to have a metabolic disorder –47 infants were confirmed to have an endocrine disorder –26 infants were confirmed to have a hemoglobinopathy –26 infants were confirmed to have cystic fibrosis –100% of infants with confirmed cases received treatment and follow-up

91. 2009 Indiana Hearing Screening Statistics Approximately 89,000 births 103 birthing facilities reported 98.7% of babies were screened 2.3% were referred for diagnostic audiology evaluations 81.3% had normal hearing results 6.2% (124 children) were diagnosed with permanent hearing loss 7.4% were lost to follow-up/documentation Additional 30 babies who were born in 2009 were identified with hearing loss in 2009 Additional 67 babies who were born before 2009 were identified with hearing loss in 2009

92. 2009 Indiana Diagnostic Statistics 87.6% of children born in 2009 received follow-up –0.6% of these children have been evaluated but need additional testing –1.4% moved out of state –0.5% are deceased –2.5% had families who declined follow-up –7.4% LTF/D Mean age of first evaluation: ~ 3 months (88.2 days) –Median age of first evaluation: ~ 2 months (56 days) Mean age of diagnosis: ~ 3 months (93.7 days) –Median age of diagnosis: ~ 2 months (58 days)

93. Contact Information for ISDH Newborn Screening Program Director of Genomics and Newborn Screening Bob Bowman Heel-stick Program –INSTEP Director – Courtney Eddy –Sickle Cell Program Director – Lisa Mani –Genomics & Cystic Fibrosis Programs Director – Malorie Hensley –Newborn Screening Data Quality Specialist – Iris Stone Early Hearing Detection and Intervention (EHDI) Program –State EHDI Director – Gayla Hutsell Guignard –EHDI Follow-Up Coordinator- Julie Schulte –UNHS Nurse Consultant – Bess Godard –Lead Audiology Regional Consultant – Molly Pope –Guide By Your Side Program Coordinator- Lisa Kovacs –EHDI Parent Consultant – Julie Swaim 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

94. 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