Health & Wellness

NEWBORN SCREENINGS
These Tests Could Save Your Baby's Life
By: Dr. Bhumi Upadhyay, Northeast Pediatrics

Most newborns are born healthy and go home with no problems. However, there are rare diseases that occur that do not show up at birth but can cause severe health problems, mental retardation, physical disabilities, and even death later. Early detection, diagnosis and treatment of these metabolic, genetic or infectious diseases can decrease significant disabilities or death.

How do we diagnose these diseases before it is too late? Screening tests are tests that are scientifically chosen for those diseases that can be tested, and if tested and treated will make a difference in prognosis. Therefore, we have the Newborn Screen that every state requires of all newborns. However, not every state tests for the same diseases. Newborn screening is capable of testing over 50 diseases. However, many states do not include all the tests, and most have only gone up to 25 diseases just in the past 2 years. Florida currently is testing for 35 diseases.

Every baby born in the hospital in Florida will get pricked in the heel in the first 48 hours before leaving the hospital. Most of us know it as the “PKU.” However, PKU is only one of the diseases tested. The full screen is called the newborn metabolic screen. How do you know the results? The state will send you a letter if any abnormalities. Your pediatrician will also get results. Most pediatricians will request results from the state if nothing was sent to them by 2 weeks. If the screen is abnormal, there will be either retesting or other further tests.

An additional screening done in many states is the hearing screen. Early screen has made a tremendous difference in catching hearing loss sooner and helping those children so further speech and developmental issues do not occur. Again, every child born in the hospital in Florida will not leave without the hearing screen.

Some commonly known diseases that are screened include sickle cell, hypothyroidism, PKU. These are all diseases that do not have cures, but preventative measures can be taken to improve quality and longevity of life. Remember, even in our state, there are still some diseases for which our newborns do not get screened. There are private companies that will do the additional testing to include over 50 diseases. You can contact them prior to the delivery of your baby, and they will set up a kit to do the extended testing. If your child is older and did not get the testing, you can still order the test. Some of the companies include Pediatrix, Mayo Clinic, Baylor Medical Center. Many private doctors are not even aware of these extended testing, so please educate everyone you know about the additional testing that can be done.

Remember, prevention is an important factor to a healthy life.

Dr. Bhumi Upadhyay, a Board Certified Pediatrician and active member of the American Academy of Pediatrics, graduated from the University of Miami six year Honors Program in Medicine. If you have questions about this article or your child email Dr. Bhumi at drbhumi@northeastkids.com. We are accepting new patients please call to get to know the doctor 526-PEDS