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Newborn screening (NBS) is a public health program of screening in infants shortly after birth for conditions that are treatable, but not clinically evident in the newborn period. The goal is to identify infants at risk for these conditions early enough to confirm the diagnosis and provide intervention that will alter the clinical course of the ...
The blood of a two-week-old infant is collected for a Phenylketonuria, or PKU, screening. The neonatal heel prick is a blood collection procedure done on newborns. It consists of making a pinprick puncture in one heel of the newborn to collect their blood. This technique is used frequently as the main way to collect blood from neonates.
With this testing methodology, newborn screening required one test to detect one condition. As mass spectrometry became more widely available, the technology allowed rapid determination of a number of acylcarnitines and amino acids from a single dried blood spot. This increased the number of conditions that could be detected by newborn screening.
The UK National Screening Committee, meanwhile, is considering reviewing the case for introducing SMA screening as part of the newborn blood spot screening programme, with pilot studies underway.
The CDC Good laboratory practice guidelines for newborn screening recommends that "laboratory specimen retention procedures should be consistent with patient decisions." [49] Researchers have described the NBS samples as a gold mine representing a patient population that would otherwise be impossible to get. [46]
Dried blood spot testing (DBS) is a form of biosampling where blood samples are blotted and dried on filter paper. The dried samples can easily be shipped to an analytical laboratory and analysed using various methods such as DNA amplification or high-performance liquid chromatography .
In 2009, Texas agreed to destroy millions of newborn blood spots that were stored without consent. Spots obtained since 2012 now are destroyed after two years unless Texas parents agree to have ...
On 9 May 2014, the UK National Screening Committee (UK NSC) announced its recommendation to screen every newborn baby in the UK for four further genetic disorders as part of its NHS Newborn Blood Spot Screening programme, including isovaleric acidemia. [6]