2017
DOI: 10.3390/ijns3030017
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Suitable Specimen Types for Newborn Biochemical Screening-A Summary

Abstract: Newborn biochemical screening has been in place in many countries for over fifty years initially testing dried skin puncture whole blood spotted on collection paper (DBS) or urine for phenylalanine or phenylketones to identify phenylketonuria. Countries wishing to commence newborn screening need to consider which type of specimen will provide a satisfactory specimen and matrix for testing for disorders relevant to their population, is acceptable to parents and can be readily transported to the analytical or la… Show more

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Cited by 5 publications
(2 citation statements)
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“…Though cord blood for measuring 17-OHP in newborns is non-invasive and easily available, it is not the ideal source as 17-OHP values are significantly higher in the first few days after birth. [ 72 ] The recommended sample collection is usually after 24 hours of birth to 7 days. The other factors that limit the sensitivity of 17-OHP results being used as a diagnostic marker are mode of delivery, gestational age and gender.…”
Section: Linical D Iagnosismentioning
confidence: 99%
“…Though cord blood for measuring 17-OHP in newborns is non-invasive and easily available, it is not the ideal source as 17-OHP values are significantly higher in the first few days after birth. [ 72 ] The recommended sample collection is usually after 24 hours of birth to 7 days. The other factors that limit the sensitivity of 17-OHP results being used as a diagnostic marker are mode of delivery, gestational age and gender.…”
Section: Linical D Iagnosismentioning
confidence: 99%
“…Capillary blood samples (usually collected later by heel prick onto collection paper) are ideal for measurement of 17OHP for NBS. They also provide an opportunity to screen for other disorders of metabolism in the same sample [ 5 , 6 ]. In a study on newborn screening of 3080 babies from Southern India, prematurity significantly increased the mean 17OHP values from 4.86 ± 2.47 to 8.97 ± 7.43 ng/mL and the median 17OHP value from 4.5 to 6.3 ng/mL (measured on competitive immunoassay) [ 7 ].…”
Section: Introductionmentioning
confidence: 99%