Newborn Screening Program NBS Community and Family Health

Newborn Screening Program (NBS) Community and Family Health Services Commission Indiana State Department of Health

NBS ê A blood test (by heel-stick) that is done on all infants shortly after birth to test for certain genetic conditions. ê 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 Mass 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 Tandem Mass Spectrometry n n n 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 Tyrosinemia & disorders of Urea Cycle

Mission Statement n n n 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 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” é

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

Newborn Screening Process WHAT IS A VALID SCREEN? n n 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.

Newborn Screening Process Why may a screen be invalid / incomplete? n n n If a screen is drawn prior to 48 hours of age and/or 24 hours protein feeding. Missing or erroneous information on test requisition card. Rejection due to QNS, or specimens greater than 10 days old.

Newborn Screening Process Video - How to conduct valid NBS test

Newborn Screening Process Centralized follow-up system n n Invalid screen Abnormal Result Presumptive positive Confirmed positive

ISDH RESPONSIBILITIES § 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

Hospital Responsibilities n n n 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 of information

PHN Responsibilities NBS Law (IC 16 -41 -17 -5) “ The state department and all local boards of health shall encourage and promote the development of plans and procedures for the detection of the disorders listed in IC 16 -41 -17 -2 in all local health jurisdictions of Indiana. ”

PHN Responsibilities Upon receiving request for assistance n Notify/educate parents of needed tests (<24, <48, <24 & < 48, abnormal, presumptive positive) . Send letter n . Make phone calls n . Make home visit

PHN Responsibilities If applicable n Collect blood sample and send to IUNBS Lab . Properly collect specimen . Properly handle and transport specimen

PHN Responsibilities If parents refuse based on religious reasons Have them complete religious waiver send to ISDH

PHN Responsibilities Complete Request for Assistance form and return to ISDH in 21 days (as indicated) if . Completed follow-up activities . Non-compliant . Unable to contact

Assurance n n 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 More than 35 PHN assistance requested per month

Indiana Newborn Hearing Screening Children and Family Health Services Commission Indiana State Department of Health

UNHS 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.

UNHS 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 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, non-invasive, and safe tests are available

How Are Babies Tested n Two procedures n Automated ABR n Oto-acoustic Emissions

Auditory Brainstem Response Band-aid-like electrodes n Earphones n Clicks are presented n Measures the brain’s response to sound n

Oto-acoustic Emissions Miniature earphone and microphone n Clicks are heard n Ear echoes back and is recorded by the microphone n

Both are reliable and accurate n Some hospitals use one method n Some hospitals use a combination n

Expected Outcomes of UNHS § 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 Most babies referred will be

Why Is Detection of Hearing Loss 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

Can A Baby Pass and Still Have a Loss Not Often n Some mild losses or losses that only affect certain pitches may be missed n Some will have delayed onset hearing loss (not present at birth) n

Goals 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 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

Hospital Responsibilities § Report to ISDH 1. Non-compliance 2. Inability to contact families 3. Change of information

Basic Protocol Provide UNHS brochure to all parents n Explain how, when, where, duration, of the screening process to all parents n

Basic Protocol n n n 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

What Are Risk Factors n n n Family history of congenital hearing loss Congenital infection (Herpes, Cytomegalovirus, Rubella, Syphilis, Toxoplasmosis) Hyperbilirubinemia/Tranfusion

High Risk Factors for Delayed Onset of Hearing Loss Infant should have follow –up testing at 9 to 12 months of age n Follow-up every 6 to 12 months until age 3 n A more formal mechanism of followup is being developed (Child with speech/language delays of concerns should have hearing tested) n

What to Say to Parents When Referral Is Indicated n n 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 When Referral Is Indicated n n n Reassure the family that further diagnostic testing will clarify the hearing status Stress that it is important that the diagnostic testing is completed in a timely manner (by age 3 months) Provide the family with the referral brochure and inform them about First Steps Early Intervention Program

First Steps Program Early Intervention Program (Administered by FSSA, Part C/IDEA) n Provide testing and follow-up to families for a minimal cost n Audiologist must be enrolled providers for reimbursement n Waiver of informed consent n

First Steps Responsibilities Best Practices Ensure appropriate diagnostic evaluation for all babies who need it n Assist ISDH with tracking of babies identified with hearing loss n Provide follow up and technical assistance to families with children at high risk of hearing loss under three years of age n

Medical Homes n n n The primary medical physician (PMP) is responsible for overall medical well being of the child The PMP needs to be informed about screening results/risk factors, and follow up issues The PMP is an important member of the team for the best long term outcomes

Lake ·Comm Hosp of Munster ·Methodist Hosp Gary ·Methodist Hosp Merrillville ·Saint Anthony Med Cen of Map of Indiana - Crown Point ·Saint Catherine Hosp of East Chicago ·Saint Margaret Mercy – Hammond ·Saint Margaret Mercy –Dyer ·Saint Mary's Med Cen Hobart Steuben La. Grange ·Cameron ·Elkhart St. Porter ·La. Porte Hosp Joseph ·La. Grange ·Gen Hosp Lake ·Portage ·St Anthony ·Goshen Comm Hosp Mich ·Gen Hosp Noble Hosp City Marshall ·Parkview ·Porter ·Comm. Hos Kosciusko Starke ·St Joe Hos ·Kosciusko Noble Hosp Mem Hosp ·Starke Mem Marshall Co Comm Hosp Whitley Jasper Hosp ·Pulaski Fulton ·Jasper Co Pulaski New ton Howard ·Howard Comm Hosp ·St Joe Hosp/Health Care Ctr Elkhart La. Porte ·Woodlawn Mem Hosp White ·White Co Mem Hosp De. Kalb • De. Kalb Mem Hosp St. Joseph ·Ancilla Health Care ·Mem Hosp – South Bend ·St Joseph Med Cen – South Bend Allen ·Whitley ·Lutheran Hosp Mem Hosp·Parkview Mem ·St Joe Med Wells Miami Wabash Hunt- Cen – Ft Wayne ·Bluffton Med Center ·Dukes Wabash ington Cass Wells Adams ·Caylor-Nickel Hosp Mem Co Hosp ·Parkview ·Logansport • Adams Hosp Health Mem Hosp Co Mem Center Hosp Blackford Black Jay - Kokomo ·Blackford Co Hosp Howard Marion Gen ford Hosp Warren ·Jay Co Tipton Vermillion Clinton Delaware Hosp ·Tipton Co M ·St Vincent a Madison ·West Central Community Mem Hosp ·Ball Mem Randolph ·Community Hosp of Anderson d Fountain Montgomery Franklin Hosp ·St Vincent Hosp ·St John Med Center Hamilton i ·St Clares V Randolph ·St Vincent Mercy Hosp – Elwood ·Riverview s Med Center Boone Morgan e o Hosp Henry n r ·Henry Co Wayne m ·Morgan Co Mem Hosp Hendricks Marion Hancock Mem Hosp ·Reid Hosp i ·St Francis Hosp & Health Parke Marion ll ·Hendricks ·Hancock Mooresville Putnam Comm Care Ctr i Mem Hosp ·Columbia Women's Hosp of Indpls o Fayette ·Putnam Co Hosp n Rush Fayette Union ·Community Hosp of Indpls Hosp Vigo Shelby Johnson 1 -East, 2 -North, 3 -South Mem Hosp Clay Morgan ·Johnson • Major Vigo ·St ·Methodist Hosp Indpls ·Columbia Terre Haute Hosp Mem Franklin ·Nurse Midwives ·Vincent Decatur ·Union Hosp – Terre Hosp Clay ·Riley Hosp - Data Management Off. Haute Barthol ·Decatur Owen Monroe Co ·St Francis Hosp. Center omew Mem Hosp Dearborn Dubois Sullivan ·Bloom Brown·Columbus ·St Vincent Hosp & Health Care Center Ripley ington Reg Hosp ·Wishard Mem Hosp ·Sullivan Co Greene ·Margaret ·Memorial Hosp Jennings Mary Comm Hosp ·Greene Co ·University Hospital & Health Care – Jackson Gen Hosp Lawrence Hosp Jasper Ohio ·Memorial ·Bedford Jefferson ·St Joseph Hosp Switzerland Medical Ctr Hosp Seymour Knox Dearborn ·King’s – Deaconess – ·Dunn Mem Daviess Daughters Hosp Good ·Daviess Martin Hosp Washington ·Dearborn Hosp Huntingburg Orange ·Wash. Co Scott Samaritan Co Hosp Scott ·Bloomington Mem Hosp Clark Hosp of ·Scott Co Mem Hosp ·Clark Mem Vanderburgh Pike Orange Co Hosp Gibson Dubois ·Deaconess Hosp ·Gibson Crawford Floyd Gen Hosp ·St Mary’s Med Center Harrison Floyd Evansville Perry ·Harrison Warrick ·St Mary’s Riverside ·Perry Co ·Floyd Mem Hosp Co Hosp Posey Vander Hosp burgh Spencer Mem Outreach Benton Carroll Tippecanoe ·Lafayette Home Hosp Grant

UNHS Consultants n n Six consultants Funded through a federal grant to ISDH Contracted through Indiana School for the Deaf Implement outreach activities across the State

UNHS Consultants Role n n n Provide technical assistance, training, and consultation to hospitals and families Provide in-service training to early intervention providers Serve as regional resource to ensure appropriate and timely care for children suspected to have or identified with hearing loss

What Services Are Appropriate for Infants n n n Diagnostic audiologic testing to confirm hearing status Diagnostic process may involve multiple evaluation procedures that may be completed over a couple of visits Determination of FS eligibility and need for early intervention services

Use of Family Resource Guide for Infants with Hearing Loss n n n Provide family support in understanding information Information about all communication and language options that need to be given Families need to investigate by observation with those using all available options

Public Health Nurse’s Role Assist ISDH in locating families of infants lost to follow-up who . Need initial screen or re-screen . Need diagnostic assessment . Need follow-up for risk of delayed onset n

Public Health Nurse’s Role Discuss the importance of UNHS with families who refuse screen for their infant (if not based on religious objection) n If parents refuse screen based on religious reason, have them completed and sign religious waiver and send back to ISDH n Assist ISDH in obtaining follow-up for any families in need of services n

Meconium Screening Program Community and Family Health Services Commission Indiana State Department of Health

Meconium Screening Program Newborn Screening Program Meconium Testing Program • Pilot Program • Selected Screening • Permanent Law • Non-invasive Procedure • Universal Screening • Refusal Not Allowed • Invasive Procedure • AIT Laboratory • Parents May Refuse • Funded by State If Criteria • IU Newborn Screening Lab Met • Funded by Hospital/patient • Follow-up by Physician – • Centralized Patient Follow-up No Individual Follow-up by State • Established Standard of Care • No General Standard of Care

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

State Criteria 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

Drug for Testing CLASS Amphetamines Methamphetamine Cannabinoids Cocaine Opiates SPECIFIC DRUG Amphetamine, Marijuana Cocaine Heroine, Morphine, Codeine, Hydrocodone

Positive Screening Result § Refer Child to First Steps § Refer Mom to a Treatment Program § Referral to Division of Family Services – Child in Need of Services

Negative Screening Result § No drugs/controlled substances were used §Use of drug not detected by the test § 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

Benefit • Reduction of post-delivery drug exposure (breast feeding) • Maternal drug treatment • Pediatric follow-up • Programs for improvement of parenting skills • Home assistance

AIT Laboratories State designated labs for the drug testing program 317 -243 -3894 n

Meconium Collection Procedures Groups Associated and Responsible for Testing § Attending Physician / Birthing Institution § Courier § Laboratory

Meconium Collection Procedures Collection Supplies: . ISDH Instruction Package. Requisition Form (317 -243 -3894). Collection Kit (317 -243 -3894)

Meconium Collection Procedures. 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)

Evaluation 2002 program report

Questions? THANK YOU!