Five Basic Newborn Screening Tests

Babies can appear healthy at birth while still having an underlying disease. Before discharge from the hospital, your newborn will be tested for any serious medical problems. Newborn screenings allow your physician to detect and treat a health condition quickly. In California, there are five main conditions your baby will be tested for:

  1. Cystic fibrosis: This genetic disease causes the body to produce thick, sticky mucus that builds up and harms important organs. This often leads to lung damage and chronic infections.
  2. Endocrine disorders: These diseases cause the body to make too much or too little hormone. Your baby will be screened for primary congenital hypothyroidism and congenital adrenal hyperplasia.
  3. Hemoglobin disorders: Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. Your newborn will be screened for two main hemoglobin disorders—sickle cell anemia and hemoglobin H disease.
  4. Metabolic disorders: This group of diseases affect the body’s ability to breakdown and use food for growth and repair. Many metabolic problems are caused by missing or impaired enzymes. Phenylketonuria and galactosemia are both metabolic disorders your newborn will be tested for.
  5. Severe combined immunodeficiency: Babies with this type of disorder are born with little to no immune system. Infants may seem healthy at birth but are highly susceptible to developing severe infections. Early detection and treatment can be lifesaving.

How Is Newborn Screening Done?

Your provider will take a small blood sample from your baby’s heel between 12 and 48 hours after he’s born. The blood is placed on a special filter paper and sent to a state-approved laboratory for testing. The blood test is simple and safe. Within a month, you’ll receive the results from the test. Your provider will give you copies of the test request form as proof of completion, including one that goes to your baby’s pediatrician.

Newborn Hearing Screenings

Along with a blood test, your baby’s hearing will be screened. Newborns should ideally have a hearing screening before they leave the hospital or, at the latest, by one month of age. This ensures babies are enrolled in early interventions if they are deaf or have hearing difficulties. Audiologists use two screenings to measure hearing loss. Both are quick, painless and can be done while your baby is asleep.

  1. An automated auditory brainstem response screening plays clicks and tones through earphones in the baby’s ears to measure nerve and brain activity to sound.
  2. An otoacoustic emissions test uses a small probe to measure sound waves in the inner ear.