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

NBS - Biotinidase Deficiency -Disorders Detected by MS/MS 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 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 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 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 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”

410 IAC 3-3-3 Sec. 3 (d) states that; 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 Protocols Initial screening Normal result Invalid screen Abnormal Result Presumptive positive Positive cases

Newborn Screening Process 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.

Newborn Screening Process 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.

Newborn Screening Process Video How to conduct valid NBS test

Newborn Screening Process Centralized follow-up system 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 care providers, local health officials, and the public.

Hospital 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 - MSR Due by the 15th of each month MSR Report consists of 2 pages Data page Reason code page Printed instructions available

Reporting - MSR Use information gathered from NBS Log Attach with MSR a copy of religious waiver if parents refuse screening Completeness

MSR: Common Errors Reason code errors MSR data errors Missing data or incomplete data Wrong form completed

Assurance 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 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 and safe tests are available

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

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

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

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

Basic 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 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 Not Passed Complete re-screen prior to discharge

When the Baby Does 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 Factors Family history of congenital hearing loss Congenital infection (Herpes, Cytomegalovirus, Rubella, Syphilis, Toxoplasmosis) Hyperbilirubinemia/Transfusion  

When a Baby Has A 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 A Risk Factor And Does not Pass Screening Treat as a baby who does not pass

What to Say to Parents When 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 When 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 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 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 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 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 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 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 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

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

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

Meconium Screening Program 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 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 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

State Criteria • history of current or past drug use 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 SPECIFIC DRUG Amphetamines Amphetamine, Methamphetamine Cannabinoids Marijuana Cocaine Cocaine Opiates Heroine, Morphine, Codeine, Hydrocodone

Positive 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 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

Benefit • Maternal drug treatment • Pediatric follow-up • 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

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)

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 2003 program report

Questions? THANK YOU!