newborn screening program (nbs) community and family health services commission indiana state...

Newborn Screening Newborn Screening Program (NBS)Program (NBS)

Community and Family Health Services

Commission

Indiana State Department of Health

NBSNBS A blood test (by heel-stick) that is done on all infants

shortly after birth to test for certain genetic conditions.

All infants born in Indiana must be tested for: - Phenylketonuria (PKU) - Galactosemia - Homocystinuria (Classic) - Maple Syrup Urine Disease (MSUD) - Hypothyroidism - Hemoglobinopathies / Sickle Cell Disease - Congenital Adrenal Hyperplasia (CAH) - Biotinidase Deficiency -Disorders Detected by MS/MS

MS/MS: Tandem MassMS/MS: Tandem Mass Spectrometry Spectrometry In 2001 the IN State Legislature

amended the requirements of the NBS Law to include additional disorders detected by this process

Tandem Mass Spectrometry is an analytical technique that separates and detects protein ions

Expanded testing for 17 additional conditions was initiated in January 2003

Disorders Detected by Disorders Detected by Tandem Mass SpectrometryTandem Mass Spectrometry Fatty Acid Oxidation Disorders:

Interfere with the body’s ability to turn fat into energy

Organic Acid Disorders: Inability to break down amino acids and other metabolites

Other Amino Acid Disorders: Include Tryrosinemia & disorders of Urea Cycle

Mission StatementMission Statement

Ensure that all newborns receive state-mandated screening for genetic disorders.

Follow-up to ensure that infants who test positive for a screened condition receive appropriate treatment, and that their parents receive appropriate genetic counseling.

Promote public awareness concerning genetic conditions.

NBS LawNBS Law

It is legislatively mandated (IC 16-41-17)

IC 16-41-17-8 states that

“Each hospital and physician shall ~ take or cause to be taken a blood sample from every infant born under the hospital’s and physician’s care”

NBS LawNBS Law

410 IAC 3-3-3 Sec. 3 (d) states that;

“If the infant is discharged from the hospital before forty-eight (48) hours after birth or before being on a protein diet for twenty-four (24) hours, a blood specimen shall be collected regardless.”

Newborn Screening ProcessNewborn Screening Process

Protocols Initial screening Normal result Invalid screen Abnormal Result Presumptive positive Positive cases


WHAT IS A VALID SCREEN? A valid screen is one which is drawn after the

child is 48 hours of age and has been on protein feeding for at least 24 hours.

The blood specimen must be received at the laboratory within 10 days of collection.


Why may a screen be invalid / incomplete?

If a screen is drawn prior to 48 hours of age and/or 24 hours protein feeding.

Missing or erroneous information on card. Rejection due to QNS, or specimens greater

than 10 days old.

Video- How to conduct valid NBS test


Centralized follow-up system

Invalid screen Abnormal Result Presumptive positive Confirmed Positive


ISDHResponsibilities

ISDHResponsibilities

Ensure mandated newborn screening tests are properly conducted. Ensure appropriate diagnosis & management of affected newborns. Administer the Newborn Screening Program Fund. Designate / contract with a Newborn Screening Laboratory. Conduct an educational program for health care providers, local health officials, and the public.

Hospital ResponsibilitiesHospital Responsibilities

Screen all the newborns prior to discharge Notify/educate parents of needed tests

(<24, <48, <24 & < 48, abnormal, presumptive positive)

Notify ISDH: 1. Non-compliant 2. Unable to contact 3. Change information

Reporting - MSRReporting - MSR

Due by the 15th of each month MSR Report consists of 2 pages

Data page

Reason code page Printed instructions available

Reporting - MSRReporting - MSR

Use information gathered from NBS Log

Attach with MSR a copy of religious waiver if parents refuse screening

Completeness

MSR: Common ErrorsMSR: Common Errors

Reason code errors MSR data errors Missing data or incomplete data Wrong form completed

AssuranceAssurance

More than 99% of infants receive initial screen

More than 98% of newborns receive complete / valid screens

100% of infants with positive test condition received treatment and follow-ups

Indiana Newborn Indiana Newborn Hearing ScreeningHearing Screening

Children and Family Health Services Commission


UNHSUNHS

Indiana’s Universal Newborn Hearing Screening Program is designed to identify infants, assure appropriate intervention, and collect information on the incidence of hearing loss in infants born in Indiana.

UNHSUNHS

Legislative mandated program IC 16-41-17-2

“… every infant shall be given a physiologic hearing screening examination at the earliest feasible time for the detection of hearing impairments.”

Why Is UNHS MandatedWhy Is UNHS Mandated

Hearing loss occurs more frequently than any other problems screened for at birth

1 to 3 out of every 1000 babies are born with permanent hearing loss

Simple, inexpensive and safe tests are available

Expected Outcomes of Expected Outcomes of UNHSUNHS

Across the nation, 2-10% of babies do not pass the screen

The expected referral rate for UNHS is <4%

Less than 1% will have a hearing loss

Why Is Detection of Hearing Why Is Detection of Hearing Loss ImportantLoss Important

Most common congenital anomaly Evidence suggests that early

identification and intervention results in significantly better language ability

UNHS increases the chance that intervention will occur before 6 months of age

Goals of UNHSGoals of UNHS

Physically screen all infants born in Indiana prior to discharge

Perform diagnostic evaluation before three months of age

Enroll in early intervention before six months of age

Hospital ResponsibilitiesHospital Responsibilities Screen all the infants prior to discharge Provide second screen to those who do not pass initial

screen Notify parents of results Report all that do not pass two screens to ISDH Report all that do not pass two screens and all that are

at risk for delayed onset hearing loss to the First Steps for

1. Diagnostic evaluation 2. Early intervention

Hospital ResponsibilitiesHospital Responsibilities

Notify ISDH of

1. Non-compliance

2. Inability to contact families

3. Change of information

Basic ProtocolBasic Protocol

Provide UNHS brochure to all parents Explain how, when, where, duration of

the screening process to all parents

Basic ProtocolBasic Protocol

Reassure all parents that screen is safe, non-invasive and painless

Complete religious waiver and attach a copy to MSR if parents refuse screening due to religious reasons

Best Practice: Complete re-screens prior to discharge

When the Baby PassesWhen the Baby Passes

Explain screening process Give family the certificate Recommend parents keep records of

screening results Provide parents with local resources if

concerns arise regarding speech/language/development

When the Initial Screen Is When the Initial Screen Is Not PassedNot Passed

Complete re-screen prior to discharge

When the Baby When the Baby Does Not PassDoes Not Pass

Inform parents of screening results and the need for referral

Give parents referral brochure and certificate

Report the findings to the PCP and First Steps

Complete MSR follow-up report

What Are Risk FactorsWhat Are Risk Factors

Family history of congenital hearing loss

Congenital infection (Herpes, Cytomegalovirus, Rubella, Syphilis, Toxoplasmosis)

Hyperbilirubinemia/Transfusion

When a Baby Has When a Baby Has A Risk FactorA Risk Factor

And Passes the Screening Explain the results Inform the parents about PMP and

First Steps referral Discuss the importance of monitoring

speech/language process Complete MSR/Follow-up Report

When a Baby Has When a Baby Has A Risk FactorA Risk Factor

And Does not Pass Screening

Treat as a baby who does not pass

What to Say to Parents What to Say to Parents When Referral Is IndicatedWhen Referral Is Indicated

Keep it simple Do not say “failed” or “deaf” or “this

happens a lot” Indicate the infant did not pass the hearing

screen Reassure the family that there are many

reasons why this can happen

What to Say to Parents What to Say to Parents When Referral Is IndicatedWhen Referral Is Indicated

Reassure the family that further diagnostic testing will clarify the hearing status

Stress that it is important for this to be completed in a timely manner (before the age 3 months)

Provide the family with the referral brochure and inform them about First Steps Early Intervention Program

MSR ReportMSR Report MSR Data: Due Date 15th Each Month MSR Report Consists of 3 Pages: Data Page Reason Code Page Follow-up Page Printed Instructions Available Attach with MSR A Copy of Religious Waiver if

Parents Refuse Screening

MSR: Common ErrorsMSR: Common Errors Reason Code Errors Follow-Up Code Errors Referral Errors MSR Data Errors Missing Data or Incomplete Data Re-screens Errors Date of Newborn Screen Not Completed Wrong Form Completed No Data on High Risk Infants

Other BarriersOther Barriers

Parents not receiving brochures, materials and explanations

Transfers to other facilities Insufficient documentation Failure to link with local resources upon

hospital discharge Out of county/out of state births Out of county/out of state referrals

First Steps ProgramFirst Steps Program

Early Intervention Program (Administered by FSSA, Part C/IDEA)

Provide testing and follow-up to families for a minimal cost

Audiologist must be enrolled provider for reimbursement

Waiver of informed consent

First Steps ResponsibilitiesFirst Steps Responsibilities Ensure appropriate diagnostic evaluation

for all babies in need Assist ISDH with tracking of babies

identified with hearing loss Provide follow-up for children at risk of

delayed onset hearing loss

Medical HomesMedical Homes

The primary medical physician is responsible for overall medical well being of the child

Need to be informed about screening results/risk factors, and follow up issues

Important member of the team for the best long term outcomes

Regional ConsultantsRegional Consultants Six Consultants Provide technical assistance, training,

and consultation to hospitals, families and community agencies

Resource to ensure appropriate and timely care for children with hearing loss

LaGrangeLaGrange Hosp

SteubenCameron Mem Hosp

DeKalb•DeKalb Mem Hosp

NobleParkview Noble Hosp

WhitleyWhitley Mem Hosp

AllenLutheran HospParkview MemSt Joe Med Cen – Ft Wayne

Wab

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W

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osp

Hu

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Ad

ams

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Co

Mem

H

osp

Wells

WellsBluffton Med CenterCaylor-Nickel Hosp

Grant Marion Gen Hosp

Blackford

BlackfordBlackford Co Hosp

ElkhartElkhart Gen HospGoshen Gen Hosp

KosciuskoKosciusko Comm Hosp

St. JosephLaPorteLaPorte HospSt Anthony Hosp Mich City

PorterPortage Comm HospPorter Mem Hosp

Lake

Lake

Comm Hosp of MunsterMethodist Hosp GaryMethodist Hosp MerrillvilleSaint Anthony Med Cen of Crown PointSaint Catherine Hosp of East ChicagoSaint Margaret Mercy –HammondSaint Margaret Mercy –DyerSaint Mary's Med Cen - Hobart

St. JosephAncilla Health CareMem Hosp – South BendSt Joseph Med Cen – South Bend

MarshallCommHos St Joe Hos Marshall Co

StarkeStarke Mem Hosp

FultonWoodlawn Hosp

PulaskiPulaski Mem Hosp

JasperJasper Co Hosp

New

ton

Benton

JayJay Co Hosp

RandolphSt Vincent Randolph Hosp

Delaware

Ball Mem Hosp

Madison

HancockHancock Mem Hosp

WayneReid Hosp & Health Care Ctr

HenryHenry Co Mem Hosp

MadisonCommunity Hosp of AndersonSt John Med CenterSt Vincent Mercy Hosp – Elwood

UnionFayetteFayette

Mem Hosp

RushShelby•Major Hosp Franklin

Decatur

Decatur Mem Hosp Dearborn

Ohio

Switzerland

RipleyMargaret Mary Comm HospJennings

JeffersonKing’s Daughters Hosp

B

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Reg

Hos

pBrown

JacksonMemorial Hosp Seymour

WashingtonWash. Co Mem Hosp

Scott

ClarkClark Mem Hosp

Floyd

Dearborn

Dearborn Hosp

JohnsonJohnson Mem Hosp

MarionMarion

Columbia Women's Hosp of IndplsCommunity Hosp of Indpls 1-East, 2-North, 3-SouthMethodist Hosp IndplsNurse Midwives Riley Hosp - Data Management Off.St Francis Hosp. CenterSt Vincent Hosp & Health Care CenterWishard Mem HospUniversity Hospital

Floyd

Floyd Mem Hosp

Scott

Scott Co Mem Hosp

HarrisonHarrison Co Hosp

Crawford

PerryPerry Co Mem Hosp

Spencer

Warrick

OrangeBloomington Hosp of Orange Co

Posey Vanderburgh

GibsonGibson Gen Hosp

PikeDubois

Vanderburgh

Deaconess HospSt Mary’s Med Center EvansvilleSt Mary’s Riverside Hosp

Dubois

Memorial Hosp & Health Care – JasperSt Joseph Hosp – Deaconess – Huntingburg

K

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G

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Sam

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Hos

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DaviessDaviess Co Hosp

Martin

LawrenceBedford Medical CtrDunn Mem Hosp

Monroe

Bloom ington Hosp

Sullivan

Sullivan Co Comm Hosp

GreeneGreene Co Gen Hosp

Vigo ClaySt Vincent Clay Co Owen

Putnam

Putnam Co Hosp

ParkeV e r m i ll i o n HendricksHendricks Comm Hosp

Morgan

MontgomerySt Clares Med Center Boone

HamiltonRiverview Hosp

TiptonTipton Co Mem Hosp

ClintonSt Vincent Franklin Hos

TippecanoeLafayette Home Hosp

Fountain

Warren

Carroll

Howard

WhiteWhite Co Mem Hosp

CassLogansport Mem Hosp

Mia

mi

Duk

es

Mem

H

osp

Vigo

Columbia Terre HauteUnion Hosp – Terre Haute

Morgan

Morgan Co Mem HospSt Francis Hosp Mooresville

Vermillion

West Central Community Hosp

Howard

Howard Comm HospSt Joe Hosp/Health Care Ctr - Kokomo

Map of

Indiana -

Outreach

Meconium Screening Program


Community and Family Health Services Commission




Newborn Screening Program • Permanent Law• Universal Screening• Invasive Procedure• Parents May Refuse• IU Newborn Screening Lab• Funded by Hospital/patient• Centralized Patient Follow-up

• Established Standard of Care

Meconium Testing Program • Pilot Program

• Selected Screening• Non-invasive Procedure• Refusal Not Allowed• AIT Laboratory• Funded by State If Criteria Met• Follow-up by Physician – No Individual Follow-up by State• No General Standard of Care

Why Meconium TestingWhy Meconium Testing

It is legislatively mandated (PL-291/2001) Drug abuse during pregnancy is a major health problem. Early

recognition, proper treatment, and follow-up to maximize the child’s development is imperative since intrauterine drug exposure is associated with mild to severe developmental delay, central nervous system damage, and behavioral dysfunction.

Mission StatementMission Statement

To identify drug afflicted infants for referral to appropriate intervention and protection programs.

To collect information on the incidence of drug abuse during pregnancy.

State CriteriaState Criteria

1. The newborn’s weight is less than 2500 grams and the head is smaller than the 10th percentile for the infant’s gestational age when there is no other medical explanation for these conditions.

OR

2. When any two of the following conditions exist:

• history of current or past drug use

• unexpected abruptio placentae

• no or inconsistent prenatal care; and

• infant shows signs/symptoms suggestive of drug effects

State CriteriaState Criteria

Drug for TestingDrug for Testing

CLASS SPECIFIC DRUG

Amphetamines Amphetamine, MethamphetamineCannabinoids MarijuanaCocaine CocaineOpiates Heroine, Morphine, Codeine,

Hydrocodone

Positive Screening ResultPositive Screening Result

Refer Child to First Steps

Refer Mom to a Treatment Program

Refer to Division of Family Services –

Child in Need of Services

Negative Screening ResultNegative Screening Result No drugs/controlled substances were used, or

Use of drug not detected by the test, or

Use of drug that is detected by the test but,

– did not take large enough dose – did not take it frequently enough to be

detected– drug was taken in early pregnancy, during

the First Trimester

BenefitBenefit• Reduction of post-delivery drug exposure (breast feeding)

• Maternal drug treatment

• Pediatric follow-up

• Programs for improvement of parenting skills

• Home assistance

AIT LaboratoriesAIT Laboratories

State designated labs for the drug

testing program 317-243-3894

Meconium Collection Procedures


Groups Associated and Responsible for Testing

Attending Physician / Birthing Institution Courier Laboratory



Collection Supplies:

. ISDH Instruction Package

. Requisition Form (317-243-3894)

. Collection Kit (317-243-3894)



. Proper completion of the Requisition Form. Proper collection of specimen. Proper sealing & shipping of the specimen. Shipping of the specimen to AIT Laboratories timely (317-243-3894)

Reporting - MSR Reporting - MSR Mandated by law (PL 291/2001)

Forms are provided by ISDH

Report must be submitted to ISDH

by 15th of each month

Reason code sheet must be completed

Report card is issued to hospital biannually

Evaluation Evaluation

2003 program report

Questions?Questions?

THANK YOU!

newborn screening program (nbs) community and family health services commission indiana state...

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