Presentation on theme: "Public Health Nurse Training"— Presentation transcript:
1 Public Health Nurse Training Maternal and Child HealthGenomics and Newborn Screening Program
2 Introduction to Indiana’s Newborn Screening Program
3 Why Do Newborn Screening? Required by Indiana law (Indiana Code )Early detection & early treatment of newborn screening disorders:Lessens severity of complicationsImproves quality of lifeLack of early detection & treatment can lead to:Severe mental retardationInadequate growth & developmentDeath
4 Mission of ISDH Newborn Screening Program Ensure that every newborn in Indiana receives state-mandated screening for all 46 designated conditionsMaintain 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 counselingPromote genetic services, public awareness, and education concerning genetic conditions
5 History of Newborn Screening in Indiana 1965: PKU only condition included in newborn screen1978: Hypothyroidism added1985: Galactosemia, homocystinuria, maple syrup urine disease (MSUD), and hemoglobinopathies added1999: Biotinidase deficiency and congenital adrenal hyperplasia added2003: Screening further expanded to include disorders detected by tandem mass spectrometry (MS/MS)2007: Cystic fibrosis was added to the panelCurrently, all infants born in Indiana are screened for 46 conditions (including hearing loss)
6 Indiana’s Newborn Screen Two parts:Heel Stick ScreeningIncludes Sickle Cell Program & Cystic Fibrosis ProgramAlso includes follow-up for metabolic and endocrine conditions on newborn screening panelEarly Hearing Detection and Intervention (EHDI)Includes Universal Newborn Hearing Screen
8 Used to screen for certain genetic conditions Heel Stick ScreeningPerformed on a blood specimen taken from the heel of an infant shortly after birthUsed to screen for certain genetic conditionsMetabolic conditionsEndocrine conditionsCystic fibrosis
9 Tandem Mass Spectrometry (MS/MS) Analytical technique that separates & detects protein ionsEnables newborn screening labs to quickly & efficiently detect many conditions in a single process through use of dried blood spot specimensDisorders detected by MS/MS:Fatty acid oxidation disordersInterfere with body’s ability to turn fat into energyOrganic acid disordersInability to break down certain amino acids & their metabolitesOther amino acid disorders (including tyrosinemia & urea cycle disorders)
10 Roles in the Heel Stick Process Public Health Nurses (PHNs) EntityRole(s)ISDHEnsure that mandated NBS is properly conductedEnsure that appropriate diagnosis & management of affected newborns occurDesignate & contract with state NBS laboratoryHospitalsScreen all infants prior to dischargeMaintain NBS logNotify parents to bring baby in for NBS if infant left hospital before NBS and parents did not sign religious waiverEducate parents about the importance of NBSNotify ISDH immediately if babies are discharged before receiving NBSNotify IU NBS lab if infants who need repeat screens cannot be contactedNotify IU NBS lab and ISDH if changes in demographic information are identifiedNotify parents if baby needs repeat NBS for any reasonNotify primary care providers (PCPs) of NBS resultsNotify PCPs if baby does not return for repeat NBSMidwivesAlert parents about newborn screeningCollect a heel stick sample directly or refer family to appropriate physician/facility for heel stick collectionIf family refuses NBS based on religious reasons, have parent(s) sign religious waiver & submit religious waiver to ISDH NBS ProgramNotify ISDH NBS Program if an infant has not received a screenNotify ISDH NBS Program within 3 days of receiving NBS resultsPublic Health Nurses (PHNs)Assist ISDH in locating parents of infants who were not screened, had invalid or abnormal screens, or require diagnostic testingEducate parents about the importance of NBS and follow-upIf parent(s) unable to get baby to hospital for repeat NBS, collect NBS specimens if trained & certified
12 Request for Assistance Form PHNs are responsible for documenting all follow-up activities on the “Request for Assistance” formForm should be returned to ISDH within 8 days and should document:Follow-up activities are completedParents fail to bring child in for initial or repeat NBSPHN is unable to contact parentsIdentified changes to demographic informationThe “Request for Assistance” Form should be returned to:Courtney Eddy, INSTEP Director, via:Fax: (317)Certified (secure) onlyNote: PHNs who need to set up a certified account should notify ISDH for assistance.
13 REQUEST FOR ASSISTANCE Form (example) Date: March 28, County: EverywherePlease 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)Reason: Early Discharge ______ <24 Hours Protein Intake ______Poor Sample ______ Transferred before Screen ______Abnormal Result ___X___ Other: Decreased T4Infant's Name: Dahl, Ken D.O.B: 2/14/ SEX: MBirthing Institution: Meridian HospitalHospital Number:Mother's Name: Dahl, Mary Doctor’s Name: Marcus WelbyAddress: 234 Center Drive Doctor’s Address: ABC StreetAnytown, IN Anytown, IN 46302Telephone: Doctor’s Phone:
14 REQUEST FOR ASSISTANCE Form (example) Need Follow-up report returned by: 5/9/2007PHN Contacts:Telephone Call: Yes ___X__ No _____ Home Visit: Yes _____ No _____Date Remarks1) / / Phone call to Mary: will take baby to hospital for repeat screen___________2) _____/_____/_____ ______________________________________________________________3) _____/_____/_____ ______________________________________________________________4) _____/_____/_____ ______________________________________________________________5) _____/_____/_____ ______________________________________________________________No Such Address: __________Will Obtain Screen At: __________________________________________________Public Health Nurse: _Vickie Nurse, R N Telephone:USE BACK OF FORM FOR ADDITIONAL REMARKSPLEASE RETURN THIS FORM TO:INDIANA STATE DEPARTMENT OF HEALTHNEWBORN SCREENING PROGRAM / MCH2 NORTH MERIDIANSUITE 700INDIANAPOLIS, ININCOMPLETE – 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: 5/9/2007PHN Contacts:Telephone Call: Yes ___X__ No _____ Home Visit: Yes _X___ No _____Date Remarks1) 05/01/2007 Phone call to mom: got voic ; left message to call Vickie, PHN at Everywhere Health Department, phone #-_2) 05/02/2007 No return call from mom: made 2nd call to mom; left message for mom to call Vickie, PHN3) 05/04/2007 No return call from mom: sent letter to mom re: the need for baby to have a repeat newborn screen4) 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.No Such Address: ____________________________________________Will Obtain Screen At: Meridian Hospital on 05/08/07 at 9:00amPublic Health Nurse: _Vickie Nurse, R N Telephone:USE BACK OF FORM FOR ADDITIONAL REMARKSPLEASE RETURN THIS FORM TO:INDIANA STATE DEPARTMENT OF HEALTHNEWBORN SCREENING PROGRAM / MCH2 NORTH MERIDIANSUITE 700INDIANAPOLIS, INCOMPLETE – Includes documentation of all PHN activities, as well as date & location of repeat NBS.
16 Heel Stick ProcedureNOTE: 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 certifiedTrained & certified PHNs are responsible for:Proper collection of heel stick blood sampleProper handling & transport of blood spot specimen to the IU NBS lab
18 Heel Stick Procedure Step 1 Equipment:Sterile lancet with tip appropriately 2.0 mm - sterile alcohol prepSterile gauze padsSoft clothBlood spot cardGloves
21 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.
22 Heel Stick Procedure Step 3 Hatched areas (arrows) indicate safe areas for puncture site.
23 Heel Stick Procedure Step 4 Warm site with soft cloth moistened with warm water (up to 41o C) for 3 – 5 minutes.
24 Heel Stick Procedure Step 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 Procedure Step 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
32 Valid Heel Stick Specimens A newborn screen is valid when:The child is at least 48 hours of ageThe child has been on protein feeding for at least 24 hoursThe 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.
35 Specimen Quantity Insufficient for Testing Possible causesRemoving 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 causeApplying blood with capillary tube or other device.
37 Specimen Not Dry Before Mailing Possible causeMailing specimen without drying for at least four (4) hours.
38 Specimen Appears Clotted or Layered Possible causesTouching same circle on filter paper to blood drop numerous times.Filling circle on both sides (front & back) of filter paper.
40 Results of NBS Normal Invalid screen Abnormal result(s) All values fall within normal rangeInvalid screenChild does not meet criteria for valid screenSpecimen > 10 days oldQNS (quantity not sufficient)Abnormal result(s)Result(s) fall outside of normal rangeAdditional testing may be required to confirm result(s)Presumptive positive result(s)Suggests abnormal result(s)
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 testNOTE: Blood specimen can be drawn at birthing facilityPHN should provide the following information to ISDH NBS Program:Name of hospital/birthing facility that will collect the specimenApproximate date of collectionName of laboratory performing confirmatory testing
44 Cost – Initial & Repeat NBS Parents are billed for the initial newborn screenCost 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 testingMedicaid will pay for confirmatory testing, if mother had Medicaid during pregnancyIf mother has no insurance coverage:She should immediately apply for Medicaid and take baby back for testingMedicaid will pay retroactively
46 Cost of Confirmatory Testing (cont.) Check with local hospitals or birthing facilities regarding payment options available to help familyIf assistance is still needed, contact:Barb Lesko at IU Newborn Screening Laboratory(800)Bob Bowman at ISDH(888)
48 Refusal of NBSNOTE: Parents can legally refuse newborn screening (NBS) only due to religious reasons.If parents refuse NBS, PHN should:Have parents complete religious waiverDocument refusal of NBS on “Request for Assistance” formSend signed religious waiver & completed “Request for Assistance” form to ISDH NBS Program
49 Early Hearing Detection & Intervention (EHDI) Part IIEarly Hearing Detection & Intervention (EHDI)
50 Early Hearing Detection and Intervention (EHDI) Three main components to the EHDI process:Universal Newborn Hearing Screening (UNHS)Diagnostic audiology assessmentFor those infants who did not pass UNHS or have risk factors for hearing lossEnrollment in early intervention services (First Steps and/or private intervention)For those infants identified with permanent hearing loss
51 Why is Hearing Screening Mandated? * Hearing loss is the condition most commonly detected at or shortly after birth *
52 Why is Hearing Screening Mandated? (cont.) Early identification & intervention help improve speech, language, social, & academic developmentEarly intervention enables parents to make timely & informed decisions
53 Goals of ISDH EHDI Program Increase the number of babies receiving UNHSReduce number of infants for whom no screening data is received at ISDHRemember...UNHS before 1 month of ageDiagnosis before 3 months of ageEarly intervention before 6 months of age
54 Roles in the EHDI Process Public Health Nurses (PHNs) EntityRole(s)ISDHTrain & support hospital screening programsTrack all babies referred for appropriate diagnosis & managementProvide families with supportHospitals & MidwivesConduct Universal Newborn Hearing Screen (UNHS) for all newborns prior to dischargeRe-screen any infant who did not pass initial screening (UNHS) in one or both earsEnsure that infants who are discharged without UNHS return before 1 month of age for screenInform PCP about screening resultsIf baby does not pass the re-screening, schedule follow-up diagnostic testing prior to dischargeProvide 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 lossPublic 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 lossEducate families about importance of UNHSEnsure that parents who refuse NBS for religious reasons sign religious waiver (return to ISDH)Assist ISDH in obtaining necessary follow-up services for families
56 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.
57 Screening Techniques – Auditory Brainstem Response (ABR) Sounds are presented through earphonesSurface electrodes measure brainstem activity in response to soundAverage test time: 20 min/baby
58 Screening Techniques – Oto-acoustic Emissions (OAE) Sounds are presented to the ear canalSmall microphone measures the cochlear response in the ear canalAverage test time: – 15 min/baby
60 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.”
61 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 ProgramScheduled for diagnostic testing at a Level 1 AudiologyReferred/Reported to the PCP
62 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 diagnostic testing between 9 and 12 months of age, or sooner if there are concernsScreeners should give parents a copy of “What If Your Baby Needs More Hearing Tests?”Babies who have risk factors for hearing loss should be:Reported to ISDH EHDI ProgramReported to their PCP for referral to a pediatric audiologist at 9-12 months of age (earlier if there are immediate concerns)
64 Family History of Congenital / Childhood Hearing Loss Includes family members with hearing loss in one/both ears since childhoodCan be due to known genetic cause or unknown causeExcludes history of middle ear infections and/or tubesExcludes family members with known, non-genetic causes of hearing lossExposure to rubellaMeningitisExposure to loud noiseTrauma
65 In Utero Infection Includes conditions from TORCH screen Toxoplasmosis Most commonly affects babies whose mothers were exposed during 1st trimesterOtherGroup beta strep (GBS)SyphilisBaby can be treated prior to deliveryRubellaMost commonly affects babies when exposure occurs during 1st trimesterCytomegalovirus (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
66 HyperbilirubinemiaRisk factor for hearing loss when bilirubin levels exceed indication for exchange transfusion
67 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 physician for diagnostic testingBabies with craniofacial anomalies who pass the screen should be referred for follow-up at 9-12 months of age
68 Referrals for Infants with Risk Factors Babies with any of the previous 4 risk factors must be reported to the ISDH EHDI ProgramThese children should receive follow-up testing from an audiologist around 9-12 months of ageFamilies should be:Informed about which risk factor(s) was/were identifiedBe provided with hearing & language developmental milestonesTold to monitor their child’s progressReferred to ISDH & their PCPBe informed of the importance of follow-up testing
69 Other Risk FactorsInfants 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 lossHave 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
71 Services Provided for Referred Infants Diagnostic audiologic testing to confirm hearing statusShould be performed at Level 1 Audiology CenterThese locations have pediatric experience & equipment necessary to perform diagnostic testingList of locations available on ISDH EHDI websiteEnrollment in early intervention servicesFor infants with confirmed hearing lossAppropriate follow-upIncludes appropriate amplification or treatment and follow-up intervention services
72 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 financiallyPrivate insurance: Some insurance companies will cover diagnostic audiology services. Families should contact their insurance carrier to determine covered services & identify providers.
73 Roles in the EHDI Follow-Up Process EntityRole(s)ISDHTrack & follow each infant referred to achieve national 1 – 3 – 6 goalsProvide educational & technical assistance to birthing facilities, families, audiologists, physicians, & early intervention providersTrain EHDI Regional Consultants, Service Providers, Hospitals, PhysiciansEHDI Regional ConsultantsProvide technical assistance, training, & consultations to hospitals, families, & community agenciesServe as resource to ensure that children with hearing loss receive appropriate & timely careFirst StepsProvide coordination of follow-up services for children with diagnosed hearing lossPublic 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 lossEducate families about importance of UNHSAssist ISDH in obtaining necessary follow-up services for infants
76 Request for Assistance Form PHNs are responsible for documenting all EHDI follow-up activities on the “Request for Assistance” formForm should be returned to ISDH within 8 days, or when:Follow-up activities are completedParents fail to bring child in for initial or repeat UNHSPHN is unable to contact parentsChanges to demographic information are identifiedThe “Request for Assistance” Form should be returned to Gayla Hutsell Guignard, ISDH EHDI Program Director via:Fax: (317)Certified (secure) onlyNote: PHNs who need to set up a certified account should notify ISDH for assistance.
77 Reasons for Referral to PHN Follow-up ActionNot Screened (No Hearing Status)May occur due to early discharge from birthing facility or equipment problemsRefer infant back to birthing facility for UNHS.Explain the NBS law & the importance of early identification of hearing lossNOTE: Parents may have refused screening based on religious objections. Ensure religious waiver completed & returned to ISDH.Passed, but with Risk FactorsFollow-up testing recommended at 9 – 12 months of ageExplain developmental milestonesExplain the importance of monitoring speech & language developmentRefer families to Level 1 Audiology Center and/or PCP for follow-upDid Not Pass UNHSFind out if follow-up testing completed. Document location, date(s), and result(s) of follow-up testing.If no follow-up testing performed, explain importance of follow-up testing to familiesIf parents do not feel a problem exists, explain that mild or unilateral (one ear only) loss may not be noticed, but could impact language development & educational progress.If questions persist, contact ISDH or EHDI Regional Consultant.Lost to Follow-UpTry to locate family. Document all attempts to find family.If family located, discuss importance of hearing screen.NOTE: Babies older than 6 months will require diagnostic assessment. Refer family to PCP and/or First Steps for follow-up.If unable to locate, complete “Request for Assistance” form & return to ISDH.
78 How is Indiana Doing? 2009 Outcome Statistics for Heel Stick & Hearing Screening
79 2009 Heel Stick Screening Statistics Approximately 89,000 births in Indiana98.2% of infants received initial newborn screens81 infants were confirmed to have a metabolic disorder47 infants were confirmed to have an endocrine disorder26 infants were confirmed to have a hemoglobinopathy26 infants were confirmed to have cystic fibrosis100% of infants with confirmed cases received treatment and follow-up
80 2009 Indiana Hearing Screening Statistics Approximately 89,000 births103 birthing facilities reported98.7% of babies were screened2.3% were referred for diagnostic audiology evaluations81.3% had normal hearing results6.2% (124 children) were diagnosed with permanent hearing loss7.4% were lost to follow-up/documentationAdditional 30 babies who were born in 2009 were identified with hearing loss in 2009Additional 67 babies who were born before 2009 were identified with hearing loss in 2009
81 2009 Indiana Diagnostic Statistics 87.6% of children born in 2009 received follow-up0.6% of these children have been evaluated but need additional testing1.4% moved out of state0.5% are deceased2.5% had families who declined follow-up7.4% LTF/DMean 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)81
82 Contact Information for ISDH Newborn Screening ProgramDirector of Genomics and Newborn ScreeningBob BowmanHeel-Stick ProgramINSTEP Director – Courtney EddySickle Cell Program Director – Lisa ManiGenomics & Cystic Fibrosis Programs Director – Malorie HensleyNewborn Screening Data Quality Specialist – Iris StoneEarly Hearing Detection and Intervention (EHDI) ProgramState EHDI Director – Gayla Hutsell GuignardEHDI Follow-Up Coordinator- Julie SchulteUNHS Nurse Consultant – Bess GodardLead Audiology Regional Consultant – Molly PopeGuide By Your Side Program Coordinator- Lisa KovacsEHDI Parent Consultant – Julie SwaimTo contact the ISDH Newborn Screening Program:Call (888)Visit the ISDH Newborn Screening website at
83 Newborn Screening: It takes a team! Primary care physicians & other health care providersPublic health nursesNewborn Screening: It takes a team!Hospitals & hospital personnelISDHIU Newborn Screening LaboratoryEarly intervention providers (First Steps)