Newborn Screening Awareness

By Dr. Patricia Avila, Pediatrician

What is Newborn Screening?

The state of Arizona screens for 31 disorders including genetic and metabolic conditions, hearing loss, and specific heart problems.  Newborn Screening includes a 2-part blood test, hearing screening, and screening for Critical Congenital Heart Disease.

Why are these tests important?

All babies are at risk.  Newborns can look healthy but can develop serious medical problems within the first weeks of life if not diagnosed and treated early.  If these conditions are not treated early, they can lead to developmental problems, slow growth, blindness, and sometimes death.  The Newborn Screening tests help to make sure all babies are tested for conditions at birth that need treatment early.  They save and improve the lives of more than 12,000 babies across the US each year.

How are these tests done?

Newborn Screening Heel Stick

A small amount of blood (approximately 5 drops) is taken from your baby’s heel and placed on a special paper.  The first test is done in the first 24 -36 hours of life in the hospital.  The second test is ordered to be done by 5-10 days of life.  Repeating the tests helps to make sure the first test is accurate.  The tests are sent to the State lab to screen for different genetic and metabolic conditions.  It is important that they are done on time to prevent serious health consequences that can happen if the disorder is left untreated.  The results are communicated to your Pediatrician who will take the necessary steps to confirm the diagnosis and start treatment early with the help of specialty doctors.

Hearing Screening

This test is done usually in the hospital before the baby is discharged.  There are 2 different ways this test can be done.  The screening measures how your baby responds to sounds and is quick and painless.  Results from this test are available as soon as the testing is done.  If not passed it will be repeated in the hospital.  If it is not passed prior to hospital discharge, your Pediatrician will order repeat testing to be done a later date.

Critical Congenital Heart Disease Screening 

This screening test helps to detect if your baby has a heart condition that is critical and involves a Pulse Oximeter which measures the blood oxygen levels.  It is done in the hospital as well after the baby is at least 24 hours old before the baby is discharged.  This screening is painless as well.  A sensor will be placed on the Right hand and foot.  If is abnormal it will be repeated.  If it is persistently abnormal your Pediatrician will discuss with you what next steps need to be done to ensure your baby does not have a heart defect.

Resources
https://azdhs.gov/preparedness/state-laboratory/newborn-screening/index.php#info-for-parents-home
https://www.babysfirsttest.org/sites/default/files/Az%20Parent%20Brochure-2018.pdf
https://www.babysfirsttest.org/sites/default/files/Can%20My%20Baby%20Hear.pdf
https://www.healthychildren.org/English/ages-stages/baby/Pages/Newborn-Screening-Tests.asp
https://www.healthychildren.org/English/ages-stages/baby/Pages/Newborn-Pulse-Oximetry-Screening-to-Detect-Critical-Congenital-Heart-Disease.aspx