Indiana State Dept. of Health- Newborn Screening - PowerPoint Presentation

Slide1

Indiana State Dept. of Health- Newborn Screening

Refreshers, Best Practices, and Program UpdatesSlide2

Mission of ISDH Newborn Screening ProgramEnsure that every newborn in Indiana receives state-mandated screening for all designated genetic 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 conditionsSlide3

Goals of Presentation Increase education for facilities to ensure that babies born in Indiana are receiving care that aligns with ISDH Newborn Screening Program’s missionInform facilities of changes that have been made within NBSDecrease the number of repeat newborn screensIncrease the turnaround time for newborn screening resultsDecrease the number of babies lost to follow-upIncrease reporting and communication with facilities and Newborn Screening ProgramSlide4

Reminders and best practices in newborn screeningSlide5

Why Do Newborn Screening?Required by law (Indiana Code 16-14-17)Early detection & treatment of newborn screening disordersLessens severity Improves quality and quantity of life yearsLack of early detection & treatment can lead to:Severe intellectual disabilityInadequate growth & developmentDeathSlide6

Birthing Facility’s RoleEntity Role(s) in the

Heelstick Process

ISDH

Ensure

that mandated newborn screening (NBS) is properly conducted

Ensure appropriate diagnosis management of affected newborns

Designate & contract with NBS Lab

Birthing Facility

Alert parents about NBS

Conduct Newborn Screening

If

family refuses NBS based on religious reasons, have parent(s) sign religious waiver & submit religious waiver to ISDH

Notify ISDH (through INSTEP monthly summary reports) if an infant has not received a screenSlide7

Newborn Screening LogAll birthing facilities and midwives should maintain a newborn screening log that documents the following info for all infants:Specimen collection dateSpecimen submission dateDate NBS results were receivedResults of NBSSlide8

Introduction to Indiana’s Newborn Screening ProcessThree parts:HeelstickPulse OximetryUniversal Newborn Hearing ScreenSlide9

Heelstick ScreeningPerformed on a blood specimen taken from the heel of an infant shortly after birthUsed to screen for certain genetic conditionsMetabolic conditionsEndocrine conditionsCystic fibrosisHemoglobinopathiesSlide10

Heelstick Procedure

Equipment:

Sterile lancet with tip approximately 2.0mm

Sterile alcohol prep

Sterile gauze pads

Soft cloth

Blood spot card

GlovesSlide11

NBS Dried Blood Spot Card (Front)Slide12

NBS Dried Blood Spot Card (Back)Slide13

Heelstick Procedure

Complete ALL information on NBS card

Do NOT contaminate filter paper circles:

Do NOT touch circles before or after blood collection

Do NOT allow circles to come into contact with spillsSlide14

Heelstick Procedure (Modified from the heelstick procedures slides provided by the New York State Department of Health)

Hatched areas indicate safe areas for puncture site

Best Practice Suggestion:

Warm

site with soft cloth moistened with warm water (up to 41o C) for

3-5min

Cleanse site with alcohol prep

Wipe DRY with sterile gauze pad

Puncture heel

Wipe away first blood drop with sterile gauze pad

Allow another LARGE blood drop to formSlide15

Heelstick ProcedureLightly touch filter paper to LARGE blood dropAllow blood to soak through and completely fill circle with SINGLE application of LARGE blood dropTo enhance blood flow, VERY GENTLY apply intermittent pressure to area surrounding the puncture siteApply blood to one side of the filter paper onlyFill all 5 circlesLet dry 4 hours before mailingApply care to puncture spotSlide16

Valid Heelstick SpecimensNewborn is >48 hrs of ageNewborn has been fed protein for >24hrsFill all required circlesAllow blood to soak through to other side of filter paperDo not layer successive drops of bloodAvoid touching or smearing spotsAllow specimen to dry for 4hrsSlide17

Invalid: Specimen Quantity Insufficient for Testing

Possible causes:

Removing filter paper before blood has completely filled circle or has soaked through to second side

Applying blood to filter paper w/ capillary tube

Touching filter paper before/after blood

specimen collection (with gloved/

ungloved hands, lotion, powder, etc.)Slide18

Invalid: 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 paperSlide19

Invalid

Specimen Appears

Scratched or Abraded

Possible cause: applying blood w/ capillary tube or other device

Specimen not Dry Before

Mailing

Possible

cause: mailing specimen without letting it dry for at least 4

hrsSlide20

Heelstick Follow-Up Guidelines (Non-NICU Patients)ResultsRequired Action(s)Normal

Ensure that results are available to PCPInvalid

Collect specimen

for repeat heelstick within 5 business days of initial screen

Abnormal

Collect specimen for repeat heelstick within 5 business days of initial screen

Presumptive

Positive

Upon notification of result

from NBS lab, collect additional specimens as necessary per guidelines outlined in the instructions from the NBS Lab within 48 hrs, or immediately per NBS Lab request.

Newborn Screening Administrative Code Title 410, Article 3.

http

://www.in.gov/legislative/iac/Slide21

Invalid Heelstick Follow-Up GuidelinesReason InvalidRequired Action(s)Heelstick

performed <48 hrs of age and/or <24 hrs on protein feedCollect

heelstick specimen before discharge

Repeat heelstick after 48 hrs of age but no later than 120 hrs (5 days) of age

Notify family that repeat heelstick required

Discharged infant did

not receive all mandated tests

Immediately contact physician & mother via phone

Immediately send written notification of need for

repeat heelstick to physician & mother; send copy to ISDH

Discharged infant did not receive all mandated tests AND

physician cannot be contacted

If repeat

heelstick not obtained w/in 3 days, notify ISDH via phone

Send written notification to ISDH via fax or certified email w/in 3 daysDischarged infant

needs repeat NBS

NBS Lab will notify physician

& birthing facility that rescreen is needed

Notify parents to bring baby back

for no-cost repeat NBS; Notify PCP of repeat results w/in 3 business days of receiving results; Notify PCP if repeat screen not obtained before 5 days of age.Slide22

Parent(s) must be educated on dried blood spot (DBS) retention and destruction. They have the choice of consenting to allow research to be conducted on DBS cards. If used for research, the researcher will not receive any information that would identify the child. Cards are made available for 3 yearsIf parent(s) do not choose to have the cards retained or used for research, the cards will be destroyed at 6 months. All DBS cards are retained for 6 months in case a repeat test is needed

Dried Blood Spot Consent Process

http://iga.in.gov/legislative/laws/2016/ic/titles/016/articles/041/chapters/017/Slide23

Pulse Oximetry Screening for Critical Congenital Heart Disease (CCHD)Slide24

Pulse Ox: Why do this screen?Helps determine health of heart & lungsLow oxygen levels can indicate CCHDCCHD: Critical Congenital Heart DefectBaby’s heart doesn’t develop correctlyAll require treatment (usually surgery) soon after birth to avoid complications (death)Every baby born in IN must be screened for CCHDSlide25

Pulse Ox: What is this screen?Small probe with red light measures oxygen levelsPlaced on:Baby’s right handOne of baby’s feetHand and foot can either be done at same time or one after anotherBaby should be awake, calm, and warmPainlessSlide26

Pulse Ox: When?Between 24 and 48 hrs of lifeMust be after 24 hrs because:Earlier screening leads to false positivesTransition from fetal to neonatal circulation; must allow time for systemic oxygen levels to stabilizeShould be before 48 hrs because:

The ductus arteriosus

closes after this

Some interventions can take advantage of

ductus

arteriosus

before it closes; don’t want to miss this opportunity

(If 48 hrs have already passed, still must do pulse ox)Slide27

Pulse Ox: Did NOT Pass ResultIf any of the following are true, the pulse ox screen was not passed:Oxygen saturation is <90% for any measurement (hand and/or foot)Infant must be IMMEDIATELY referredOxygen saturation is <95% in BOTH hand AND foot on three separate consecutive measurements separated by one hour

Oxygen saturation in the hand is at least 3% higher/lower than oxygen saturation in the foot on three separate consecutive measurements separated by one hourSlide28

Pulse Ox: Pass ResultBoth must be true for a pass:Oxygen saturations are 95% or higher in the hand or foot ANDDifference between oxygen saturation in the hand and foot is 3% or less.Slide29

Pulse Ox: right hand and one foot after 24 hrs of age

≥95% in right hand or foot AND <3% difference between right hand & foot

< 95% in right hand & foot OR >3% difference between right hand & foot

< 95% in right hand & foot OR >3% difference between right hand & foot

< 95% in right hand & foot OR >3% difference between right hand & foot

NORMAL NEWBORN CARE

REFER INFANT FOR CLINICAL ASSESSMENT

Repeat pulse ox in 1hr

Repeat pulse ox in 1hr

<90% for either right hand and/or footSlide30

Failed Pulse OxClinical assessment:Medical evaluationEchocardiogramReferral to pediatric cardiologyImmediately if symptomaticIn timely manner if asymptomaticSlide31

Protocols for Infants Who Did Not Receive Pulse OxReason Infant Did Not Receive Pulse OxRequired Action(s)

Did not receive all mandated tests due to religious reasons

Ensure that parents complete religious waiver

Send signed waiver to ISDH

Discharged prior to receiving pulse ox

Immediately contact physician & mother by telephone

to notify them that pulse ox is required. (Must be performed ASAP for a valid screen)

If mother cannot be contacted by yourself or the physician and pulse ox cannot be performed, contact ISDH

Transferred to another hospital prior to receiving pulse ox

Contact hospital to which infant was transferred to ensure that pulse ox was doneSlide32

Early Hearing Detection and Intervention (EHDI)Universal Newborn Hearing ScreeningSlide33

Why Screen a Newborn’s Hearing?Up to 3 babies in 1000 have permanent hearing loss. It is the most common congenital conditionAnother 6 per 1000 babies acquire late-onset hearing loss during childhoodIn Indiana, 134 babies were identified in 2015 – nearly 100 more that were born in other years were also identified in

2015Slide34

Why UNHS?Before newborn hearing screening became routine, most children were not identified with hearing loss until the age of 2 or 3Today, many babies are identified by a few weeks of age when appropriate intervention programs can maximize their long term speech and language, cognitive and social skillsSlide35

Why UNHS?Average age of identification:1980s: 30 months2003: 6 months2007: 3 months

When does a child begin to learn language?Slide36

EHDI Goals1-3-6!!Screen by 1 monthConfirmatory evaluation by 3 months (Identify!)

Early intervention by 6

monthsSlide37

EHDI ProcessBabies are required by law to have a hearing screening (preferably before 1 month of age)The only acceptable reason (by law) for a baby to not receive a hearing screening is a religious objectionSlide38

Screening ProcedureScreening may occur twice (max)Both ears screened each timeBoth ears must pass on the same screenIf both ears do not pass either screen, they are referred immediately for a diagnostic hearing evaluationSlide39

Infant Hearing ScreeningOtoacoustic Emissions (OAE)

Measures “echo” from the inner ear

Tests for sensory hearing lossSlide40

Infant Hearing ScreeningAutomated Auditory Brainstem Response (AABR) Measures brainwaves associated with hearingScreens for all types of hearing lossSlide41

EHDI ProcessHospitals/birthing centers are required to report UNHS data to ISDH/EHDI:Number of live birthsBabies that did not pass UNHSBabies that did not receive UNHS

Babies that passed but are at riskSlide42

EHDI Best PracticesThe newborn or infant's hearing should be screened after six (6) hours of age and prior to discharge as follows:(1) Preterm newborns or infants (born prior to thirty-five (35) weeks gestational age) who stay in the nursery greater than five (5) days should have hearing screening when the newborn or infant is medically stable, but prior to discharge.Slide43

EHDI Best Practices(2) Newborns or infants who reside for greater than five (5) days in the neonatal intensive care unit (NICU), especially those who have complicated birth factors, are considered to be at significantly greater risk for types of neural hearing loss, such as auditory neuropathy/dysynchrony. These newborns or infants should receive hearing screening or diagnostic testing, or both, as recommended by the department.Slide44

EHDI Best Practices(3)When possible, inpatient diagnostic testing shall be made available to long-stay newborns or infantsSlide45

Reporting to ISDHMail NBS card to laboratoryMonthly Summary ReportPaper copy or Online (INSTEP): Indiana Newborn Screening Tracking & Education Program (INSTEP)

To register for INSTEP, please contact:

ISDH Genomics and Newborn Screening

ISDHNBS@isdh.in.gov

P

: (

888) 815-0006

F

: (317) 234-2995Slide46

Mail NBS Card to IU Laboratory

Create account with IU laboratory

Barb

Lesko

Send completed blood spot card to IU Newborn Screening Lab within 24 hours of collection.

Address:

Newborn Screening Laboratory

PO Box 770

Indianapolis, IN 46206

Phone: 1(800) 245-9137

Request more supplies

Barb

Lesko

: (317) 491 – 6682

Questions or concerns

Sending NBS cards through neighboring hospitals/clinics

Establishing accountSlide47

Contact InformationNewborn Screening Genomics and Newborn ScreeningISDHNBS@isdh.in.gov

P: (888) 815-0006

F

: (317) 234-2995

EHDI

Early

Hearing Detection & Intervention (EHDI) Program

Alyssa Rex, Follow-up Coordinator

ARex@isdh.IN.gov

P: 855.875.5193

F: 317.925.2888

USPS:

Indiana State Dept. of Health – Maternal and Child Health

Attn: Newborn Screening

2 N. Meridian St.

Indianapolis, IN 46204Slide48

Requesting Lab ResultsFax the lab on your letterhead and include:Baby’s nameBaby’s DOBMom’s nameBirth FacilityFax: (317) 491-6679Slide49

Opting OutEvery person has the right to opt out of newborn screening due to religious beliefsComplete Religious WaiverMail or Fax:Indiana State Department of HealthAttn: Genomics and Newborn Screening 2 North Meridian Indianapolis, IN 46204

Fax: (317) 234 – 2995- Update INSTEP exceptionSlide50

NBS updatesSlide51

NewSTEPs360Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC)Recommended Universal Screening Panel (RUSP) Standardized best practices in NBSObjectives:Specimen received by lab 24 hours after collectionPresumptive Positive results reported within 5-7 days after birthAll results within 7 days after birthSlide52

Weekend Courier Spring 2017, the IU NBS laboratory will be adding a Sunday courier pickup to increase the turnaround time for NBS specimens In addition, the laboratory will be extending the laboratory hours from 5 days/week to 6 days/week These changes will result in faster NBS results and quicker care for newborns born with a genetic conditionSlide53

Quality Indicators and TrainingBest practices on your end that can help the NBS lab meet the timeliness expectations:Allow blood spot to dry 4 hours before putting in envelop Coordinate heelstick time with courier pick-up timeQuality checks:NBS Lab will be tracking time of receipt (blood spot card)NBS Lab tracking invalid blood spot resultsShow facility performance monthly (webinars, newsletters, ISDH website)Training:

Monthly webinars ISDH NBS team able to offer focused training as needed or as indicated by quality checksSlide54

Q & AAny questions?!?