Newborn Screening

Newborn Screening | CU OB/GYN | Photo of mother caring for newbornAccording to the US Department of Health and Human Services, September was Newborn Screening Awareness Month.

Save babies through screening foundation

The Save Babies Through Screening Foundation is a good resource to learn more about Newborn Screening Awareness. The mission of this foundation is to improve the lives of children and their families, by working to prevent disabilities and death resulting from disorders detectable through newborn screening tests. The Foundation’s goal is to see that every baby born in the United States is screened successfully, effectively, and comprehensively.

Their motto, “Newborn screening saves babies, one foot at a time,” is derived from the fact that most newborn screening is conducted on blood obtained from your baby via a heel stick.

The basic principles of newborn screening

Newborn screening tests are designed to identify apparently healthy children born with rare but devastating genetic disorders which, if addressed early, can be managed so that the child can lead a normal life. Approximately 6,000 – 7,000 children are identified this way every year. Examples of diagnoses that you may already know include PKU and sickle cell anemia.

To understand the process better, Save the Babies has a highly informative, extremely well done video on its website. I watched all 16.5 minutes of it. It is filled medical information and many success stories from families as well as health professionals. Their public health message is underscored by the story of one family whose daughter carries a disease which was not clinically diagnosable at the time of her birth. Testing is available now. They were very brave to be included in this project.

Learn some genetics

Most of the diseases being screened for are inherited genetically in an autosomal recessive fashion. At the six-minute mark, you can see a fantastic demonstration of what this means. Clearly, Dr. Melissa Wasserstein from Mount Sinai School of Medicine in New York City has to explain this to families A LOT. She uses bright red Popsicle sticks to illustrate how a normal individual can actually carry and pass on of a rare genetic disorder. It’s ingenious.

Different states offer different screening tests

You can find out which tests are automatically included in your state’s public health program by clicking on the map of the United States on the Save the Babies website. From there, you are connected with the various agencies in charge of the programs at the state level.

In the case of Colorado, the link takes you to the Colorado Department of Public Health. After some digging, you’ll find that Colorado offers between 40 and 49 tests. From the Colorado State Department of Health website itself, however, I counted 37, so don’t be surprised if you encounter some discrepancies. The hospital where you deliver can provide you with the most up to date information.