Definition

Percentage of newborns screened in Utah for state mandated screening.

Numerator

Number of newborns screened who were born in Utah or number of newborns diagnosed with a specific disorder.

Denominator

Number of newborns born in Utah or total number of newborns diagnosed with a specific disorder.

Why Is This Important?

Screening of newborns for genetic disorders and disabling conditions facilitates early entry into comprehensive care programs, which can improve quality of life, avoid disability, and save lives. [http://health.utah.gov/newbornscreening] Newborn Screening Statute [[br]] [http://le.utah.gov/xcode/Title26/Chapter10/26-10-S6.html] Newborn Screening Rule 438-15[[br]] [https://rules.utah.gov/publicat/code/r438/r438-015.htm]

Healthy People Objective MICH-32:

Increase appropriate newborn blood-spot screening and followup testing
U.S. target: Not applicable, see subobjectives in this category

Other Objectives

Healthy People 2020 MICH-32 subobjectives: MICH-32.1: Increase the number of States and the District of Columbia that verify through linkage with vital records that all newborns are screened shortly after birth for conditions mandated by their State-sponsored screening program [[br]] '''U.S. Target:''' 45 States (44 States and the District of Columbia) [[br]][[br]] MICH-32.2: Increase the proportion of screen-positive children who receive followup testing within the recommended time period[[br]] '''U.S. Target:''' 100 percent [[br]][[br]] MICH-32.3: (Developmental) Increase the proportion of children with a diagnosed condition identified through newborn screening who have an annual assessment of services needed and received

How Are We Doing?

Utah is compliant with the national recommendations for screening disorders and March of Dimes recommendations. During the next decade, genetic technology will dramatically increase the potential to screen newborns for inherited diseases. Significant future policy decisions will include the means to pay for the prevention services made possible through such emerging technology.

How Do We Compare With the U.S.?

The following websites have a listing of all states and what is tested: [[br]] [https://newsteps.org/] [[br]] [http://www.babysfirsttest.org/]

What Is Being Done?

The UDOH Division of Disease Control and Prevention oversees newborn screening in Utah.

Available Services

Education of screening practices, counseling regarding screened disorders, and referrals to appropriate specialists. Office Hours: 8:00 AM - 5:00 PM Monday - Friday Newborn Screening Program[[br]] Utah Public Health Laboratory[[br]] PO Box 144710[[br]] Salt Lake City, UT 84114-4710[[br]] Phone: 801-584-8256 Education material available at: [[br]] [newbornscreening.health.utah.gov]

Health Program Information

The Utah Newborn Screening Program (NSP) began in 1979 screening for three disorders: 1) Phenylketonuria, 2) Galactosemia, and 3) Congenital Hypothyroidism. Screening for Hemogolobinopathies began in 2001. In 2006 Tandem Mass Spectrometry (TMS) was introduced and screening for Amino Acid, Organic Acid, and Fatty Acid Oxidation disorders began. Screening for Biotinidase also started in 2006. Cystic Fibrosis was added in 2009, SCID in 2013 and GAMT deficiency June 1, 2015. SMA screening was added January 29, 2018. XALD screening was added September 20, 2020. [http://le.utah.gov/xcode/Title26/Chapter10/26-10-S6.html Newborn Screening Statute] [https://rules.utah.gov/publicat/code/r438/r438-015.htm Newborn Screening Rule 438-15]

Relevant Population Characteristics

All genetic disorders can occur in any race. There is no correlation with income or social status.

Health Care System Factors

Screening is a system-level intervention overseen in Utah by the UDOH Division of Disease Control and Prevention. All parts contribute to the outcome of the affected newborn. The hospital or place of birth begins the process by initiation of screening at time of birth. Timing of specimen collection and delivery to the State Laboratory is essential to rapid turn-around of testing. This rapid testing allows the follow-up program to identify the newborn and family and initiate the necessary confirmatory testing and referral for treatment before problems begin. The child's primary care provider (also known as the child's Medical Home) ensures follow-through and treatment (if necessary) throughout the lifetime. Specialty multidisciplinary clinics, which may include pediatric geneticists and genetic counselors, complement the child's Medical Home in providing specialized services and care for the family and newborn. All components help in the education of the family and newborn.

Risk Factors

Risk factors for genetic conditions include family history. Women who have PKU and become pregnant have increased risks for their baby (microcephaly and cardiac problems). The women need tight control of their phenylalanine levels before becoming pregnant, as well as during their pregnancy.

Health Status Outcomes

Most newborns with metabolic disorders appear normal. Signs and symptoms do not develop until the disorder is advanced and morbidity has been established. Early intervention (treatment, dietary changes, etc.) before signs and symptoms appear can minimize, if not eliminate, the impact on the newborn's life (allow normal growth and development).

References and community resources

Program website [[br]] [https://newbornscreening.health.utah.gov/] Other websites [[br]] [http://www.medicalhomeportal.org/newborn] [[br]] [https://newsteps.org/] [[br]] [http://www.babysfirsttest.org/] [[br]]