An Introduction to Indiana’s Newborn Screening Program

Maternal and Children’s Special Health Care Services

Genomics and Newborn Screening Program

Why Do Newborn Screening?

• Required by Indiana law (Indiana Code 16-41-17)

• Early detection & early treatment of newborn screening disorders:– Lessens severity of complications– Improves quality of life

• Lack of early detection & treatment can lead to:– Severe mental retardation– Inadequate growth & development– Death

ISDH Newborn Screening Program

• Main components of the ISDH Newborn Screening Program:

• Heel Stick Program • Includes Sickle Cell Program & Cystic Fibrosis Program• Also includes follow-up for metabolic and endocrine

conditions on newborn screening panel

• Early Hearing Detection and Intervention Program (EHDI)

• Includes Universal Newborn Hearing Screen

Mission of ISDH Newborn Screening Program

• Ensure that every newborn in Indiana receives state-mandated screening for all 46 designated conditions

• Maintain 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 counseling

• Promote genetic services, public awareness, and education concerning genetic conditions

Part I

Heel Stick Screening

Heel Stick Screening

• Performed on a blood specimen taken from the heel of an infant shortly after birth

• Used to screen for certain genetic conditions– Metabolic conditions– Endocrine conditions– Cystic fibrosis

History of Newborn Screeningin Indiana

• 1965: PKU only condition included in newborn screen

• 1978: Hypothyroidism added

• 1985: Galactosemia, homocystinuria, maple syrup urine disease (MSUD), and hemoglobinopathies added

• 1999: Biotinidase deficiency and congenital adrenal hyperplasia added

• 2003: Screening further expanded to include disorders detected by tandem mass spectrometry (MS/MS)

• • 2007: Cystic fibrosis was added to the panel

• Currently, all infants born in Indiana are screened for 46 conditions (including hearing loss)

Tandem Mass Spectrometry (MS/MS)

• Analytical technique that separates & detects protein ions

• Enables newborn screening labs to quickly & efficiently detect many conditions in a single process through use of dried blood spot specimens

• Disorders detected by MS/MS:• Fatty acid oxidation disorders

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

• Organic acid disorders• Inability to break down certain amino acids & their metabolites

• Other amino acid disorders (including tyrosinemia & urea cycle disorders)

Roles in the Heel Stick ProcessEntity Role(s)

ISDH

• Ensure that mandated NBS is properly conducted• Ensure that appropriate diagnosis & management of affected newborns occur• Designate & contract with state NBS laboratory

Hospitals

• Screen all infants prior to discharge• Maintain NBS log• Notify parents to bring baby in for NBS if infant left hospital before NBS and parents did not sign religious waiver• Educate parents about the importance of NBS• Notify ISDH if babies are discharged before receiving NBS, infants who need repeat screens cannot be contacted, or changes in demographic information are identified• Notify parents if baby needs repeat NBS for any reason• Notify primary care providers (PCPs) of NBS results• Notify PCPs if baby does not return for repeat NBS

Midwives

• Alert parents about newborn screening• Collect a heel stick sample directly or refer family to appropriate physician/facility for heel stick collection• If family refuses NBS based on religious reasons, have parent(s) sign religious waiver• Notify ISDH NBS Program if an infant has not received a screen• Notify ISDH NBS Program within 3 days of receiving NBS results

Public Health Nurses (PHNs)

• Assist ISDH in locating parents of infants who were not screened, had invalid or abnormal screens, or require diagnostic testing• Educate parents about the importance of NBS and follow-up• If parent(s) unable to get baby to hospital for repeat NBS, collect NBS specimens if trained & certified

Heel Stick Screening Follow-up

• Follow-up consists of actions to ensure that:

– Every newborn receives a valid newborn screen

– Any newborn with abnormal or invalid screening results receives appropriate follow-up

– Any newborn who is confirmed to have one of the designated genetic conditions receives appropriate treatment and family counseling

•

Early Hearing Detection & Intervention

(EHDI)

Part II

Early Hearing Detection and Intervention (EHDI)

• Three main components to the EHDI process:

– Universal Newborn Hearing Screening (UNHS)

– Diagnostic audiology assessment• For those infants who did not pass UNHS or have risk factors for

hearing loss

– Enrollment in early intervention services (First Steps)• For those infants identified with permanent hearing loss

Why is Hearing Screening Mandated?

* Hearing loss is the condition most commonly detected at or shortly after birth *

0

5

10

15

20

25

30

35

40

Hearing loss

Down syndrome

Spina bifida

PKU

Why is Hearing Screening Mandated? (cont.)

• Early identification & intervention help improve speech, language, social, & academic development

• Early intervention enables parents to make timely & informed decisions

Professional Awareness of UNHS

• Surprisingly low recognition of the prevalence and consequences of hearing loss in infants

• Many physicians are unaware of:– Advances in technology – Testing methods

• Medical home– Primary care physician (PCP) is responsible for overall

medical well-being of child• PCP needs to be informed about screening results, any risk

factors, and issues related to follow-up

National & State Goals for EHDI

• Screen before 1 month of age

• Diagnosis before 3 months of age

• Intervention before 6 months of age

History of UNHS in Indiana

• 1994: Less than 18% of hospitals provided UNHS using a high-risk registry

• 1999: Newborn Screening law amended to include UNHS

• 2000: Full implementation of UNHS was required

• 2001: 100% of Indiana hospitals provided screening babies for hearing loss

Roles in the EHDI Process

Entity Role(s)

ISDH

• Train & support hospital screening programs• Track all babies referred for appropriate diagnosis & management• Provide families with support

Hospitals & Midwives

• Conduct Universal Newborn Hearing Screen (UNHS) for all newborns prior to discharge• Re-screen any infant who did not pass initial screening (UNHS) in one or both ears• Provide each family with UNHS results and copy of Hearing Screening Certificate• Ensure that infants who are discharged without UNHS return before 1 month of age for screen• 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 loss

Public 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 loss• Educate families about importance of UNHS• Ensure that parents who refuse NBS for religious reasons sign religious waiver (return to ISDH)• Assist ISDH in obtaining necessary follow-up services for families

Screening Techniques – UNHS

• Automated auditory brainstem response (AABR)

• Oto-acoustic emissions (OAE)

Screening Techniques – Auditory Brainstem Response (ABR)

• Sounds are presented through earphones

• Surface electrodes measure brainstem activity in response to sound

• Average test time: 20 min/baby

Screening Techniques – Oto-acoustic Emissions (OAE)

• Sounds are presented to the ear canal

• Small microphone measures the cochlear response in the ear canal

• Average test time: 5 – 15 min/baby

How Well is Indiana Doing?

2006 Outcome Statistics for Heelstick & Hearing Screening

2006 Heelstick Screening Statistics

• Approximately 88,000 births in Indiana

– 99.95% of infants received initial newborn screens

– More than 98% received complete and valid screens

– 121 infants were confirmed to have metabolic or endocrine disorders

– 100% of infants with confirmed cases received treatment and follow-up

2006 Hearing Screening Statistics

• Approximately 88,000 births• 97.8% babies were screened • 1.9% were referred for diagnostic audiology

evaluations• 73% had normal hearing results• 7% were diagnosed with permanent hearing

loss

• An additional 47 babies (born prior to 2006) were identified with hearing loss in 2006

• In 2006, 1.3 babies per 1,000 births received a diagnosis of hearing loss

• Average age of identification in Indiana: • 4 – 5 months for babies screened before leaving the

hospital

• U.S. average age at diagnosis without UNHS:• 13 months for babies with severe hearing loss• 22 months for babies with mild – moderate hearing loss

2006 Hearing Screening Statistics (cont.)

Newborn Screening:

It takes a team!Hospitals & hospital

personnelISDH

Primary care physicians & other health care

providers

Public health nurses

Early intervention providers (First Steps)

IU Newborn Screening Laboratory

Contact Information for ISDH Newborn Screening Program

• Director of Genomics and Newborn Screening• Bob Bowman

• Heel Stick Program– Heel Stick Program Director – Iris Stone– Sickle Cell Program Director – Lisa Mani– Cystic Fibrosis Program Director – Connie Burrus

• Early Hearing Detection and Intervention (EHDI) Program – State EHDI Coordinator – Gayla Hutsell Guignard– UNHS Nurse Consultant – Bess Godard– Lead Audiology Regional Consultant – Molly Pope– EHDI Parent Consultant – Leslie Hine

• To contact the ISDH Newborn Screening Program:– Call (888) 815-0006 – Visit the ISDH Newborn Screening website at http://www.NBS.IN.gov

Next Steps

• Hospital staff and midwives should view the training titled “Newborn Screening Training for Hospitals and Midwives”

• Public health nurses should view the training titled “Newborn Screening Training for Public Health Nurses”

• Both trainings are followed by a mandatory post-test