Office of Newborn Screening

50 Years of Newborn Screening!

This year, the nation celebrates 50 years of Newborn Screening! The first newborn screening test was developed in 1963 by Dr. Robert Guthrie to test for phenylketonuria, commonly known as PKU. Since then, scientists have developed more tests to screen newborns for a variety of severe conditions.

The first state to require testing was Massachusetts and many states soon followed suit. The State of Arizona currently screens for 29 disorders, including hearing loss. Throughout the year, we will celebrate this milestone by sharing resources about newborn screening, links to other organizations, and personal stories from families impacted by newborn screening. Check back frequently to see what has been added!

June

Congenital Hypothyroidism (CH) and Congenital Adrenal Hyperplasia (CAH) are endocrine disorders which, if left untreated, can lead to many developmental issues. If a child is found to have CH or CAH, and treatment is started early, the chances of healthy and normal development are much greater. All babies born in Arizona are tested for CH and CAH as part of their newborn screening.

Congenital Hypothyroidism

• Baby's First Test: Primary Congenital Hypothyroidism
  Helpful information about CH, including follow-up testing, treatment and services for those with CH.
• Genetics Home Reference: Congenital Hypothyroidism
  Information about CH from a genetic standpoint.
• Effect of Laboratory Practices on the Incidence Rate of Congenital Hypothyroidism
  Article from Pediatrics, Official Journal of the American Academy of Pediatrics

Congenital Adrenal Hyperplasia

• Baby's First Test: Congenital Adrenal Hyperplasia
  Helpful information about CAH, including follow-up testing, treatment and services for those with CAH.
• Genetics Home Reference: 21-hydroxylase Deficiency (CAH1)
  Information about the most common form of CAH from a genetic standpoint.
• CARES Foundation
  Support group serving those with CAH by raising awareness, providing advocacy and donating towards CAH research.

May

Cystic Fibrosis Awareness

May is Cystic Fibrosis Awareness Month. Cystic fibrosis (CF) is an inherited disorder of the mucus glands that affects the lungs and digestive system. Left untreated, CF can cause serious health problems which can lead to early death. Early diagnosis and treatment can significantly prolong and enhance the quality of life of those with CF. All babies born in Arizona are tested for CF as part of their first newborn screening.

• Cystic Fibrosis Awareness Month
  Helpful information and resources from the Cystic Fibrosis Foundation, highlighting several ways to raise awareness of CF.
• Baby’s First Test: Cystic Fibrosis
  Helpful information about CF, including follow-up testing, treatment and services for those with CF.
• Genetics Home Reference: Cystic Fibrosis
  Information about CF from a genetic standpoint.
• Great Strides
  An annual nationwide event where hundreds of thousands of walkers come together to raise money for CF research.
• Adding Tomorrows
  Keith and Kennedy are siblings with CF. Watch their video and learn about how they live with CF.

Better Hearing and Speech

May is Better Hearing and Speech Month (BHSM). Hearing loss can affect a child’s ability to develop communication, language, and social skills. The earlier children with hearing loss start getting services, the more likely they are to reach their full potential. In Arizona, nearly all babies are screened for hearing loss at their birth hospitals. If a baby fails a hearing screen, a repeat screen should be done as soon as possible.

• Kaidan’s Story
• Sofia’s Story
• Adam’s Story
• Information for Parents - Hearing Screening
• Better Hearing and Speech Month – ASHA.org - Helpful information and resources from the American Speech-Language-Hearing Association, celebrating BHSM by raising awareness.
• Baby’s First Test: Hearing Loss – Helpful information about hearing screening, follow up, and services for those with hearing loss.
• The EAR Foundation of Arizona – Dedicated to the prevention, detection and intervention of hearing loss.
• Arizona State Schools for the Deaf and the Blind – Provides statewide services to children with hearing loss through site-based programs, regional cooperatives, and a statewide early intervention program.
• Sequoia School for the Deaf and Hard of Hearing (SSDHH) – Public charter school serving Kindergarten through 12th grade, preparing children with hearing loss to succeed.
• Desert Voices - Non-profit organization dedicated to providing children who have hearing loss with training and other services to help them develop spoken language.

April

Phenylketonuria (PKU) and Maple Syrup Urine Disease (MSUD) are conditions characterized by the body's inability to break down certain proteins. Early detection and treatment of these disorders can save affected babies' lives and prevent irreversible damage from occurring. Check out the links below for more information about PKU and MSUD. Also, the Arizona Network for PKU and Allied Disorders (ANPAD) is a local support network organizing seminars, camps, fundraising and other community events for families to communicate and learn from each other.

PKU

• Kristi - An Adult Looks Back on Her Experience
• Special PKU Event – D-backs vs. Phillies game on May 11th, 2013
  May is National PKU Awareness Month, and there will be a special event for those who are living with PKU. For more information, go to AZ Network for PKU and Allied Disorders.
• Cadence - A Father’s Perspective
• Grant - A Family’s Story
• Owen - Learning the Weight
• Baby’s First Test: Classic Phenylketonuria
  Helpful information about testing, follow-up, and treatment for PKU.
• Genetics Home Reference: Phenylketonuria
  Information about PKU from a genetic standpoint

MSUD

• Baby's First Test: Maple Syrup Urine Disease Helpful information about testing, follow-up, and treatment for MSUD.
• Genetics Home Reference: MSUD Information about MSUD from a genetic standpoint.
• MSUD Research Foundation Local nonprofit organization dedicated to ongoing research and helping to ensure that "all families are afforded the services, education, and treatment available to enable early detection and manage MSUD."
• Arizona Network for PKU and Allied Disorders (ANPAD) Local support network organizing seminars, camps, fundraising and other community events for families to communicate and learn from each other.
• MSUD Family Support Group National nonprofit organization for those with MSUD and their families.

March

Preparing for and knowing how to respond to emergencies is important for all families, and is especially vital for families of children who have been diagnosed with disorders. By doing things like preparing a plan, making an emergency kit, and staying informed about possible emergency situations, families can deal with disasters much more effectively when they do occur.

• Centers for Disease Control and Prevention (CDC) and American Red Cross Answers to common questions and step-by-step guidance you can take now to protect you and your loved ones.
• Just in Case Arizona Work with your family to plan for emergencies.
• Ready.gov Learn about common natural hazards in Arizona, and how to prepare for them.
• Baby's First Test: Looking to the Future Helpful information about the medical home, transition. and emergency preparedness for families of children living with conditions.
• Arizona Hospital and Healthcare Association: Disaster Preparedness Learn how Arizona's hospitals and clinicians plan and practice for disasters.

February

February 14th is Congenital Heart Defect Awareness Day.

• Heart Smart: Critical Congenital Heart Defect (CCHD) Screening for Parents
• Baby’s First Test: CCHD
• Mended Little Hearts of Phoenix – Local support for CCHD families
• Screening for Congenital Heart Defects
• Congenital Heart Defect – Austin: A Family's Story
• Congenital Heart Defect – Trey: A Mom's Perspective

January

Check out 50 Years of Saving Babies’ Lives for information, resources and stories about newborn screening!