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Hospital & Midwives Training

Learn about Indiana's Newborn Screening Program, required by law and essential for early detection and treatment of disorders in newborns. Improve the quality of life for infants by ensuring appropriate diagnosis, treatment, and genetic counseling in case of positive screening results.

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Hospital & Midwives Training

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  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 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)

  10. 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

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

  12. 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

  13. Blood Spot Card (front)

  14. Blood Spot Card (back)

  15. 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.

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

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

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

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

  20. 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.

  21. 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.

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

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

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

  25. Valid vs. Invalid Blood Spot Specimens

  26. 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

  27. 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.

  28. Invalid Specimens

  29. 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.)

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

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

  32. 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.

  33. NBS Results and Required Follow-up Actions

  34. 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)

  35. Heel Stick Follow-Up Guidelines (non-NICU patients)

  36. Heel Stick Follow-Up Guidelines(NICU Patients) *NOTE: If discharge occurs within 6 days of 2nd or 3rd specimen, no specimen is required at discharge. Implemented October 1, 2007

  37. 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

  38. Protocols for Infants Who Did Not Receive a NBS

  39. Required Actions – Infant Did Not Receive NBS

  40. Reporting to ISDH – Heel Stick

  41. Reporting to ISDH – Heel Stick • Birthing facilities should complete & submit the Monthly Summary Report (MSR) to ISDH • MSRs are due by the 15th of the following month • For example, January’s MSR is due before February 15th • 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

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

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

  44. 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

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

  46. 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

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

  48. 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

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