Public Health Nurse Training Maternal and Child Health Genomics and Newborn Screening Program
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
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
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)
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
Part I Heel Stick Screening
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
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)
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: • Courtney Eddy, INSTEP Director, via: • Fax: (317) 234-2995 • Certified (secure) e-mail only (CEddy@isdh.IN.gov) • Note: PHNs who need to set up a certified e-mail account should notify ISDH for assistance.
REQUEST FOR ASSISTANCE Form (example) Date:June 2, 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
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.
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.
Heel Stick Procedure • NOTE:The following procedures are modified from the heel stick procedures slides provided by the New York State Department of Health
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
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
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.
Heel Stick ProcedureStep 3 • Hatched areas (arrows) indicate safe areas for puncture site.
Heel Stick ProcedureStep 4 • Warm site with soft cloth moistened with warm water (up to 41o C) for 3 – 5 minutes.
Heel Stick ProcedureStep 5 • Cleanse site with alcohol prep. • Wipe DRY with sterile gauze pad.
Heel Stick Procedure Step 6 • Puncture heel. • Wipe away first blood drop with sterile gauze pad. • Allow another LARGE blood drop to form.
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.
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.
Heel Stick ProcedureStep 9 • Dry blood spots on a dry, clean, flat, non-absorbent surface for a minimum of four (4) hours.
Heel Stick Procedure Step 10 • Mail completed blood spot card to IU Newborn Screening Lab within 24 hours of collection.
Heel Stick Procedure NOTE: • Use of capillary tubes to collect heel stick specimens is NOT recommended or included as part of Indiana’s protocols
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
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.
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.)
Specimen Appears Scratched/Abraded Possible cause • Applying blood with capillary tube or other device.
Specimen Not Dry Before Mailing Possible cause • Mailing specimen without drying for at least four (4) hours.
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.
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)
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
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
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
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
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
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