Newborn Screening: Why it Matters

All parents in the US are---in theory---familiar with "newborn screening". Remember those "heel sticks" on your tiny newborn's feet? All babies in every state in the US have a small blood sample from these heel sticks sent to a state lab for analysis, using that state's protocol for newborn screening. These tests are for conditions that are treatable if caught early, to prevent side effects or early death.

The American College of Medical Genetics has recommended that all babies in all states be screened for 29 conditions. The AAP has endorsed this, while noting that this will require fundamental changes not only in the way state labs test samples, but in the way the information is reported and followed-up.

Some of the conditions tested for are very rare disorders. It is possible that many primary practitioners will never see some of these disorders in their practice. But a standardized testing system would lead not only to earlier identification, but to better information for primary practitioners.

My state of Virginia has just added 17 additional tests to the protocol. The hope is that caught early, these conditions can be treated to avert devastating side effects and/or death.

However, because the percentage of babies who screen positive is very tiny compared to the total number of newborns each year, complacency seems to build up. Generally, parents are only dimly aware that all babies are screened. Nursery nurses can become lackadaisical about filling out forms legibly or carefully entering the correct primary care physician for the baby. This last piece of information is incredibly necessary, as the state lab will contact that physician and some of these rare disorders require immediate---immediate cannot be stressed too strongly---intervention.

So I'd like to suggest everyone take a minute and read some of the stories at the Save Babies web site. If you are short of time, then just read Storm and Tiger's story. I guarantee you will not feel complacent about newborn screening after that.

mary