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329Newborn screening NBS is the most widely used form of genetic testing in the U S and is mandated by individual states Anderson Rothwell Botkin 2011 Shortly after birth each infant's heel is pricked to draw blood for NBS This heel prick is usually performed by a nurse or a phlebotomist who then places the blood on a specimen card and submits the card to the appropriate laboratory Riley 2012 NBS is done during the first few days of life in order to screen infants for certain disorders that with treatment or lifestyle changes can have decreased morbidity and improved mortality Anderson et al 2011 NBS began in the 1960s when Robert Guthrie a microbiologist designed the heel stick blood test to screen for phenylketonuria PKU which causes irreversible intellectual disability if not controlled with a restrictive diet
These include a stressful delivery prematurity and other reasons Cystic Fibrosis Foundation and A baby may also have a false positive NBS for cystic fibrosis if he or she has one CF gene mutation meaning the baby is a carrier of cystic fibrosis Cystic Fibrosis Foundation n d Carriers can pass the disease on to their future children but do not have the condition themselves Parents may believe that being released from the hospital with their newborn is indicative of a clean bill of health Some parents may not know that their newborn underwent NBS until they receive a positive screening result Anderson et al 2011 Parens patriae meaning parent of the country is a legal principle that allows states to practice certain responsibilities of parents as long as it benefits the child and society Anderson et al 2011 This means that newborns can undergo NBS without parental consent the state acts as the guardian instead Parents are often provided educational materials regarding NBS but not actively educated on the process and what the results mean President's Council on Bioethics 2008
This may lead to stress when parents receive positive NBS results During the interval between receiving a positive NBS result and receiving a negative diagnostic test parents may experience distress and view their child differently Duff Brownlee 2008 The effects on parents of newborns with false positive NBS becomes of greater interest with the expansion of number of tests and number of false positive results This impact should be explored in order to determine the extent of future policies concerning the provision of NBS services and the education parents receive prior to receiving the screening results It is also important for healthcare professionals to understand the possible impact of FP results for healthcare delivery