A $10 test at birth could save your baby’s life

Baby girl bathes in a bath with foam and soap bubbles

Baby girl bathes in a bath with foam and soap bubbles

Getty Images/iStockphoto

There was a time when babies who appeared healthy would suffer needlessly because they had a metabolic disorder. There was a time when it wasn’t discovered until months and sometimes years later that the baby could not hear. There was a time when babies who appeared healthy for the first few weeks would start to lose weight, have episodes of turning blue and then die because their heart was not able to sustain life. These were the times when babies would die without an explanation.

Luckily those days are gone for the most part. The No. 1 cause of death of an infant now is an unsafe sleep environment.

Before we had metabolic testing, many babies went undiagnosed with disorders that could have been cured. They died because of an illness undetected.

Dr. Robert Guthrie in the 1960s championed for mass screening of babies for a metabolic disorder called Phenylketonuria, commonly referred to as PKU. By adjusting the diet of a baby who had PKU, the baby would grow up to be a healthy adult. Otherwise, they suffered from intellectual and developmental disabilities and other lifelong health problems.

The success of the mass testing for PKU led to the addition of other tests as science developed our ability to test. However, it varied from state to state. In 2002, some states were testing for four and some were testing for 50 metabolic disorders. The American College of Medical Genetics was asked and did compile a list of recommended disorders for which to test. The recommendation is now at 26 disorders. Today, nearly all states routinely test for 29.

The test is done by collecting five drops of blood on a form equipped with a special paper. But it is not just the blood test that helps detect problems with babies. The form also mandates we record whether or not a baby has passed a hearing screen and passed a CCHD test.

In 2011, it was recommended to states to do a simple test using pulse oximetry. This test estimates the amount of oxygen in a baby’s blood. Low levels of oxygen can be a sign the baby has a critical congenital heart defect. The test is painless and takes only a few minutes. A pulse ox is placed on a baby’s hand and on a foot. The amount of oxygen level on both should match. If they don’t, the baby “fails” the CCHD and further testing is then done.

In 2017, eight states had started requiring the CCHD test be done on every baby as part of the metabolic screening. What followed was amazing. The eight states who required the testing saw a 33{b4bb8ddb70249670c85c66def16f765bd40a90ddaa69bcee7e340d9a7e1b07a9} decrease in CCHD deaths and a 21{b4bb8ddb70249670c85c66def16f765bd40a90ddaa69bcee7e340d9a7e1b07a9} decrease in other congenital cardiac deaths related to other cardiac disorders.

In 2021, 49 states and the District of Columbia have CCHD as part of their routine metabolic screening tests. Only the state of California does not require it. It does offer the test as an option.

The cost of the test is around $10. In my estimation that is a small price to pay for possibly saving a baby’s life.