Public Health Nurse Training

1. Public Health Nurse 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 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)

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. 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

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)

11. PHN Request for Assistance Form

12. Request for Assistance Form • PHNs are responsible for documenting all follow-up activities on the “Request for Assistance” form • Form should be returned to ISDH within 8 days and should document: • Follow-up activities are completed • Parents fail to bring child in for initial or repeat NBS • PHN is unable to contact parents • Identified changes to demographic information • The “Request for Assistance” Form should be returned to: • Iris Stone, ISDH Heel Stick Program Director via: • Fax: (317) 234-2995 • Certified (secure) e-mail only (IStone@isdh.IN.gov) • Note: PHNs who need to set up a certified e-mail account should notify ISDH for assistance.

13. REQUEST FOR ASSISTANCE Form (example) Date:July 26, 2014County:Everywhere Please advise the parent(s) of the infant named below that a repeat test or initial test for newborn screening is necessary. This can be done at the hospital of birth or any other facility that has the heel-stick test kit.   The hospital of birth is preferable as generally there is no additional charge for a rescreen. If the parents have any questions regarding this request, they may contact the Newborn Screening Program at the Indiana State Department of Health, (317) 233-1379. Reason: Early Discharge ______ <24 Hours Protein Intake ______ Poor Sample ______ Transferred before Screen ______ Abnormal Result ___X___ Other: Decreased T4 Infant's Name:Dahl, KenD.O.B:2/14/2007SEX:M Birthing Institution:Meridian Hospital Hospital Number:123456 Mother's Name:Dahl, MaryDoctor’s Name: Marcus Welby Address:234 Center DriveDoctor’s Address: ABC Street Anytown, IN 46302Anytown, IN 46302 Telephone:517-789-1011Doctor’s Phone: 517-245-6789

14. REQUEST FOR ASSISTANCE Form (example) Need Follow-up report returned by: 5/9/2007 PHN Contacts: TelephoneCall: Yes ___X__ No _____ HomeVisit: Yes _____ No _____ DateRemarks 1) 05 / 01 / 2007 Phone call to Mary: will take baby to hospital for repeat screen___________ 2) _____/_____/_____ ______________________________________________________________ 3) _____/_____/_____ ______________________________________________________________ 4) _____/_____/_____ ______________________________________________________________ 5) _____/_____/_____ ______________________________________________________________ NoSuch Address: __________ Will Obtain Screen At: __________________________________________________ Public Health Nurse: _Vickie Nurse, R NTelephone: 517-456-2345 USE BACK OF FORM FOR ADDITIONAL REMARKS PLEASE RETURN THIS FORM TO: INDIANA STATE DEPARTMENT OF HEALTH NEWBORN SCREENING PROGRAM / MCH 2 NORTH MERIDIAN SUITE 700 INDIANAPOLIS, IN 46204 INCOMPLETE– PHN did not record date/location of repeat NBS. This form should not be returned to ISDH until missing documentation is added.

15. REQUEST FOR ASSISTANCE Form (example) Need Follow-up report returned by: 5/9/2007 PHN Contacts: TelephoneCall: Yes ___X__ No _____ HomeVisit: Yes _X___ No _____ DateRemarks 1) 05/01/2007Phone call to mom: got voicemail; left message to call Vickie, PHN at EverywhereHealth Department, phone #-_456-2345 2) 05/02/2007 No return call from mom: made 2nd call to mom; left message for mom to call Vickie, PHN 3) 05/04/2007 No return call from mom: sent letter to mom re: the need for baby to have a repeat newborn screen 4) 05/07/2007 Still no response from mom: made home visit; spoke with mom and explained the importance of the baby having a repeat NBS for further evaluation. Mom said she will take baby back to birthing hospital tomorrow. 5) 05/08/2007 Received call from mom who said she took baby back for re-screen today at 9:00 am. NoSuch Address: ____________________________________________ Will Obtain Screen At: Meridian Hospital on 05/08/07 at 9:00am Public Health Nurse: _Vickie Nurse, R NTelephone: 517-456-2345 USE BACK OF FORM FOR ADDITIONAL REMARKS PLEASE RETURN THIS FORM TO: INDIANA STATE DEPARTMENT OF HEALTH NEWBORN SCREENING PROGRAM / MCH 2 NORTH MERIDIAN SUITE 700 INDIANAPOLIS, IN 46204 COMPLETE – Includes documentation of all PHN activities, as well as date & location of repeat NBS.

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

17. Collecting Heel Stick Specimen • If parent(s) / guardian(s) are unable to get the baby back to the hospital for the repeat screen, PHNs can collect NBS specimen, if trained and certified • Trained & certified PHNs are responsible for: • Proper collection of heel stick blood sample • Proper handling & transport of blood spot specimen to the IU NBS lab

18. Heel Stick ProcedureStep 1 • Equipment: • Sterile lancet with tip appropriately 2.0 mm - sterile alcohol prep • Sterile gauze pads • Soft cloth • Blood spot card • Gloves

19. Blood Spot Card (front)

20. Blood Spot Card (back)

21. Heel Stick ProcedureStep 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.

22. Heel Stick ProcedureStep 3 • Hatched areas (arrows) indicate safe areas for puncture site.

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

24. Heel Stick ProcedureStep 5 • Cleanse site with alcohol prep. • Wipe DRY with sterile gauze pad.

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

26. 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.

27. 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.

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

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

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

31. Valid vs. Invalid Blood Spot Specimens

32. Valid Heel Stick Specimens • 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

33. 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.

34. Invalid Specimens

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

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

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

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

39. Possible Results of Newborn Screening

40. Results of NBS • Normal • All values fall within normal range • Invalid screen • Child 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 • Additional testing may be required to confirm result(s) • Presumptive positive result(s) • Suggests abnormal result(s) • Additional testing may be required to confirm result(s)

41. Confirmatory Testing

42. Confirmatory Testing - PHN Responsibilities • If confirmatory testing for NBS conditions is required: • PHN will receive requisition and name of lab that will perform the test • NOTE: Blood specimen can be drawn at birthing facility • PHN should provide the following information to ISDH NBS Program: • Name of hospital/birthing facility that will collect the specimen • Approximate date of collection • Name of laboratory performing confirmatory testing

43. Cost of Newborn Screening

44. 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

45. Cost of Confirmatory Testing • 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

46. Cost of Confirmatory Testing (cont.) • Check with local hospitals or birthing facilities regarding payment options available to help family • If assistance is still needed, contact: • Barb Lesko at IU Newborn Screening Laboratory • (800) 245-9137 • Bob Bowman at ISDH • (888) 815-0006

47. Refusal of Newborn Screening

48. Refusal of NBS • NOTE: Parents can legally refuse newborn screening (NBS) only due to religious reasons. • If parents refuse NBS, PHN should: • Have parents complete religious waiver • Document refusal of NBS on “Request for Assistance” form • Send signed religious waiver & completed “Request for Assistance” form to ISDH NBS Program

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

50. 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 intervention) • For those infants identified with permanent hearing loss