Office of Newborn Screening

50 Years of Newborn Screening!

Last 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!

Throughout the year we've shared many stories from families who have dealt with disorders which can be detected through newborn screening. Check out the beautiful photos as we look back at a great year and read through some of these remarkable stories.

  • November
  • October
  • September
  • August
  • June
  • May
  • April
  • March
  • February
  • January


Biotinidase Deficiency

Babies with biotinidase deficiency are unable to reuse and recycle biotin, an important vitamin necessary for breaking down fats, proteins and carbohydrates. Signs of biotinidase deficiency, including seizures, trouble breathing, skin rash and hair loss, usually show up early in life. In some cases, however, symptoms do not present themselves until childhood. Therefore it is very important to be screened at birth. In Arizona, all babies are tested for biotinidase deficiency. More information about biotinidase deficiency can be found below.


Babies with galactosemia have problems properly digesting galactose, a sugar found in all foods containing milk. If left untreated, galactosemia can cause seizures, liver damage, blood infections, and death. Babies with galactosemia who are diagnosed and treated early can often lead healthy lives. In Arizona, all babies are tested for galactosemia. More information about biotinidase can be found below.


Sickle Cell Awareness

September is Sickle Cell Awareness Month. Sickle cell disease is an inherited blood disorder where normally round red blood cells become shaped like a crescent, or sickle. Children with sickle cell disease develop anemia, clogged blood vessels and slower blood flow, which can cause pain and fatigue, as well as damage to tissues and organs. While treatment can help with symptoms, there is currently no cure for sickle cell disease. In Arizona, all babies are tested for sickle cell disease. More information and stories about sickle cell disease can be found below.


Glutaric Acidemia Type I

Babies with glutaric acidemia type I (GA-1) cannot break down certain proteins properly. GA-1 is considered an organic acid disorder because it can lead to a harmful amount of organic acids and toxins in the body. If undiagnosed and untreated, GA-1 can cause brain defects or even death. With early diagnosis and treatment, however, children with GA-1 can often lead healthy lives. Read the story below to see how one family has dealt with GA-1.

Fatty Acid Oxidation Disorders

Babies with Fatty Acid Oxidation disorders cannot break down the fats that they have stored in their body for energy. This is because an enzyme is either missing or not working properly. These babies must not go without eating for very long and may need glucose when they are sick. If undiagnosed and untreated, these disorders can lead to serious complications affecting the liver, heart, eyes and general muscle development, and possibly death. These disorders include Carnitine uptake defect (CUD), Medium-chain acyl-CoA dehydrogenase deficiency (MCAD), Long-chain 3-OH acyl-CoA dehydrogenase deficiency (LCHAD), and Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD).


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

Congenital Adrenal Hyperplasia


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.

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.


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.




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.


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

Note: Information provided in PDF files unless otherwise indicated.