Newborn Screening

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Newborn screening has improved lives for thousands of children across America. Newborn screening is a series of tests conducted from a blood sample taken from a newborn within the first few days of life. In New York State, newborns are screened for up to fifty different metabolic, endocrine, and hematologic disorders. This screening process aims to provide early diagnosis and referral for treatment for several genetic diseases. Some of these disorders may be life threatening and severely debilitating, and screening for these disorders allows for an early diagnosis, which helps the intervention process start early with an ultimate goal of slowing the progression of the disease. The tests for all of these congenital conditions are performed on one tiny sample of blood, called a Guthrie spot, obtained by pricking the baby's heel within the first few days of life, before the baby is discharged from the hospital. This newborn screening is required before any newborn is allowed to leave the hospital they were born in. Parents are allowed to opt out for religious reasons. The blood is collected on special paper and left to dry, which is then sent to the Newborn Screening Program facility for testing. Test results are reported to an infant’s primary care physician and parents are notified of results from them. In NYS, there are reasons behind what disorders are newborns are screened for. Typically, the disorders that are screened for have a relatively high incidence in the population, high sensitivity (meaning few false positives), inexpensive to run the tests, and affordable treatments for families. I feel that Newborn Screening is an essential preventative public health measure to identify infants at risk in the first few days of life to forever change the quality of their life if they screen positive for any tested disorder. Early diagnosis leads to early treatment which can forever change a child’s life.

National Newborn Screening and Genetics...
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