daup h i n c m s .o .o rg Newborn Screening Awareness B By PUNEET JAIRATH, MD, FAAP aby Charly was born full term with a reportedly uncomplicated pregnancy. He had a normal birth and appeared healthly at time of birth with a birth weight of 8 lbs and had newborn metabolic screening done at 24 hrs of age at the hospital. He was examined a few times and his initial exams were reported normal and he was discharged home at 3 days. A day after getting home, Charly's mom was called by her Pediatrician to say that there was something wrong with his newborn metabolic screen. Charly's mom had also noticed that Charly was not feeding very well since past 1 day and was vomiting a lot. Charly was brought to the ER and based on his clinical assessment aided by Newborn screening report, he was started on medication and was stabilized quickly. In this case, the infant was diagnosed with a condition called 'Congenital Adrenal Hyperplasia' based on Newborn Metabolic screen results and subtle signs and symptoms. Late diagnosis and delayed treatment can prove life threatening for this condition. In this scenario, Newborn Metabolic screen likely saved Charly's life! Continued on page 28 Central PA Medicine Fall 2017 27http://www.dauphincms.org