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Office of Newborn Screening

Information for Parents – Disorder Information

Arizona's Newborn Screening Panel consists of 29 Disorders, including Hearing Loss
The Arizona Newborn Screening bloodspot test screens for 28 rare and serious disorders. This early test will tell your baby's doctor whether more specialized testing is needed. Medical specialists are available for consultation so that a diagnosis can be made. The Office of Newborn Screening works with doctors and families to get the proper treatment for babies found to have any of these disorders. These disorders cannot be cured but with careful, lifelong treatment, babies can grow up and have good lives.

This is a screening test which means that it cannot diagnose a disorder, only show a greater risk for the disorder. Not every abnormal newborn screening test indicates a disorder. Further tests may come back normal. There is also a slight possibility that a disorder might be missed with a screening test so doctors will still consider the possibility if symptoms arise later.

The Office of Newborn Screening also assists with follow-up for babies who do not pass their hearing screening test.

More information about disorders is provided below, or visit our FAQs page.

Endocrine Disorders
Babies with these disorders do not make enough of certain hormones needed to regulate body functions. If a baby's body cannot make a hormone, the baby is given medicine containing the hormone. Without the hormones needed, babies cannot grow and develop properly or respond to stress.

The medical specialist that treats these babies is an endocrinologist. These disorders are:

  • Congenital Hypothyroidism: a relatively common* and not often inherited disorder
  • Congenital Adrenal Hyperplasia: a relatively rare*, inherited disorder

Hemoglobinopathies
Babies with these disorders have problems with their red blood cells. They will have anemia and may have episodes of pain, jaundice, and life-threatening infections and stroke. Treatment with penicillin may prevent serious infections in early childhood.

The medical specialist that treats these babies is a hematologist. These disorders are:

  • Sickle Cell Anemia: a relatively rare*, inherited disorder
  • Sickle Beta Thalassemia: a rare*, inherited disorder
  • Sickle C Disease: a relatively rare*, inherited disorder
  • NCAA Sickle Cell Trait StatusPDF - A Letter from ADHS
Other Enzyme Deficiencies
Babies with these disorders cannot process a certain sugar or vitamin. Avoiding the sources of the sugar or taking extra amounts of the vitamin allow the baby's body to function properly.

The medical specialist that treats these babies is a metabolic specialist or a biochemical geneticist. These disorders are:

  • Biotinidase Deficiency: a rare*, inherited disorder
  • Galactosemia (GALT): a rare*, inherited disorder
Amino Acid Disorders
Babies with these disorders cannot use regular food because their bodies cannot break down certain amino acids found in the protein of foods. They are given special low protein foods and formula.

The medical specialist that treats these babies is a metabolic specialist or a biochemical geneticist. These disorders are:

  • Phenylketonuria (PKU): a relatively rare*, inherited disorder
  • Maple Syrup Urine Disease (MSUD): a very rare*, inherited disorder
  • Homocystinuria (HCY): a very rare*, inherited disorder
  • Citrullinemia (CIT-1): a very rare*, inherited urea cycle disorder
  • Argininosuccinic Acidemia (ASA): a very rare*, inherited urea cycle disorder
  • Tyrosinemia Type I: a very rare*, inherited disorder
Fatty Acid Oxidation Disorders
Babies with these disorders cannot break down the fats that they have stored in their body for energy. These babies must not go without eating for very long and may need glucose when they are sick.

The medical specialist that treats these babies is a metabolic specialist or a biochemical geneticist. These disorders are:

  • Carnitine Uptake Defect: a very rare*, inherited disorder
  • Medium-chain Acyl-CoA Dehydrogenase Deficiency: a relatively rare*, inherited disorder
  • Very long-chain Acyl-CoA Dehydrogenase Deficiency: a rare*, inherited disorder
  • Long-chain 3-OH Acyl-CoA Dehydrogenase Deficiency: a rare*, inherited disorder
  • Trifunctional Protein Deficiency: a very rare*, inherited disorder
Organic Acid Disorders
Babies with these disorders cannot break down certain amino acids which are part of protein in foods. Toxic substances build up in their bodies. Babies are given special diets and other treatments.

The medical specialist that treats these babies is a metabolic specialist or a biochemical geneticist. These disorders are:

  • Isovaleric Acidemia: a very rare*, inherited disorder
  • Glutaric Acidemia Type I: a rare*, inherited disorder
  • 3-Hydroxy-3-Methylglutaric Aciduria: a very rare*, inherited disorder
  • 3-Methylcrotonyl CoA Carboxylase Deficiency: a rare*, inherited disorder
  • Multiple Carboxylase Deficiency: a very rare*, inherited disorder
  • Methylmalonic Acidemia (mutase): a rare*, inherited disorder
  • Methylmalonic Acidemia (cobalamin defect): a very rare*, inherited disorder
  • Propionic Acidemia: a rare*, inherited disorder
  • Beta Ketothiolase Deficiency: a very rare*, inherited disorder
Cystic Fibrosis
A relatively common*, inherited disorder. Babies with CF develop thick, sticky mucus in their lungs and other organs. They are more likely to have lung infections. Mucus in the digestive system causes problems absorbing food. Babies are given antibiotics and other treatments.

The medical specialist that treats these babies is a pulmonologist or a CF specialist at a CF Center.

Hearing Loss
A relatively common*, not usually inherited disorder. Babies identified with hearing loss can learn language and speech without delays with chosen interventions—learning sign language or obtaining hearing aids, speech therapy and sometimes surgery.

The specialists that treat these babies are otolaryngologists (ear, nose and throat specialists), otologists, audiologists and speech therapists.

* Items are categorized by their occurrence as follows:

  • common: occurs in greater than 1 in 5,000 US births
  • relatively common (occurs in greater than 1 in 5,000 US births)
  • relatively rare (occurs in greater than 1 in 25,000 US births)
  • rare (occurs in greater than 1 in 50,000 US births)
  • very rare (occurs in less than 1 in 100,000 US births)

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