Central PA Medicine Fall 2017 - 27

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!
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