Newborn Screening: Common Tests and What They Include

Mothers of newborns in the US are offered screenings and tests for their children. This occurs in the first 1-2 days of life, ideally before the newborn is discharged from the hospital. These examinations are designed to pick up a wide range of conditions and diseases, from cataracts in the eyes, dysfunction in the hips, undescended testes, and heart disease, to name a few. 

Newborn babies in the U.S. are routinely screened for several rare but serious medical conditions. This is called newborn blood spot screening, or the heel stick test. A healthcare professional collects a few drops of blood from your baby's heel, usually within 24–48 hours after birth. Early detection is important because many of these conditions can be treated more effectively when identified early.

Some of the conditions screened for include:

• Homocystinuria
• Isovaleric acidemia
• Maple syrup urine disease
• Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
• Cystic fibrosis
• Sickle cell disease
• Congenital hypothyroidism
• Phenylketonuria (PKU)

The conditions included in newborn screening vary by state.

Results are usually available within 5–7 days and are sent to your baby's healthcare provider. You may be contacted sooner if additional testing is needed. Ask about your baby's screening results at their first or second well-child visit, even if you have not been contacted.

Newborn babies should have their hearing screened before they are 1 month old, ideally before leaving the hospital. If screening cannot be completed before discharge, an outpatient appointment can be arranged.

Two types of hearing screening tests are commonly used. Both are quick, painless, and usually performed while your baby is sleeping or resting quietly.

Otoacoustic Emissions (OAE) screening: A small, soft probe is placed inside your baby's ear. The probe plays gentle sounds and measures how the inner ear responds.

Automated Auditory Brainstem Response (AABR) screening: Small sensors are placed on your baby's head, and soft earphones deliver sounds. The test measures how the hearing nerve and brainstem respond to these sounds.

If your baby does not pass the initial screening, additional testing may be recommended. This does not necessarily mean your baby has hearing loss, but follow-up is important.

Babies who receive care in a neonatal intensive care unit (NICU) generally undergo AABR screening because they have a higher risk of certain types of hearing loss. Babies with prolonged NICU stays may also need additional hearing evaluations.

If your baby does not pass their hearing screening, a complete hearing evaluation should be performed as soon as possible, preferably before 3 months of age.

Yes. There have been no reported adverse effects from the screening tests carried out on newborn babies. They are highly recommended as they can prevent potentially life-threatening conditions further down the line, and from a personal note, all of us here at Healthwords would recommend screening, and have partaken in it too!