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Int. J. Neonatal Screen., Volume 1, Issue 2 (September 2015) , Pages 57-78

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Open AccessArticle Influence of Hematocrit and Total-Spot Volume on Performance Characteristics of Dried Blood Spots for Newborn Screening
Int. J. Neonatal Screen. 2015, 1(2), 69-78; https://doi.org/10.3390/ijns1020069
Received: 27 May 2015 / Revised: 6 August 2015 / Accepted: 17 August 2015 / Published: 21 August 2015
Cited by 20 | Viewed by 2841 | PDF Full-text (640 KB) | HTML Full-text | XML Full-text
Abstract
Dried blood spots (DBS) have been used in newborn screening (NBS) tests for over 50 years. The Newborn Screening Quality Assurance Program (NSQAP) at the Centers for Disease Control and Prevention (CDC) conducted studies to assess the individual impacts of hematocrit and total-spot [...] Read more.
Dried blood spots (DBS) have been used in newborn screening (NBS) tests for over 50 years. The Newborn Screening Quality Assurance Program (NSQAP) at the Centers for Disease Control and Prevention (CDC) conducted studies to assess the individual impacts of hematocrit and total-spot volume on characteristics of DBS samples. Per-punch serum volumes decreased 27%, RBC volumes more than doubled, absorption times increased over 300%, and spot diameters decreased marginally between the hematocrits of 40% to 65%. Per-punch serum and RBC volumes decreased logarithmically with lowering total-spot volumes. Patient hematocrit is an uncontrollable variable and inevitably affects the resulting punch from a DBS sample. It may be possible, though, to identify samples that fall outside of an acceptable range by noting certain physical characteristics of the DBS. Full article
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Open AccessReview Newborn Screening for Glutaric Aciduria Type I: Benefits and limitations
Int. J. Neonatal Screen. 2015, 1(2), 57-68; https://doi.org/10.3390/ijns1020057
Received: 22 April 2015 / Revised: 26 June 2015 / Accepted: 30 June 2015 / Published: 10 July 2015
Cited by 2 | Viewed by 1988 | PDF Full-text (251 KB) | HTML Full-text | XML Full-text
Abstract
More than 15 years ago glutaric aciduria type I has been included in newborn screening programmes and pilot studies evaluating the potential benefit of early diagnosis and start of metabolic treatment for patients with this disease have been initiated. At that time many [...] Read more.
More than 15 years ago glutaric aciduria type I has been included in newborn screening programmes and pilot studies evaluating the potential benefit of early diagnosis and start of metabolic treatment for patients with this disease have been initiated. At that time many important questions on epidemiology, diagnostic quality, natural history, treatment, and cost effectiveness were not sufficiently answered. In particular, it was rather unknown whether early treatment improves the outcome. After implementation of glutaric aciduria type I in an increasing number of countries, and with careful evaluation of disease course and impact of early treatment, there is now solid evidence that affected individuals do have substantial benefit and that newborn screening for this disease is a cost-effective diagnostic intervention. Despite this success, there are still limitations concerning diagnostic sensitivity for patients with a low excreting phenotype and knowledge on long-term disease outcome. In conclusion, it has become evident that tandem mass spectrometry-based newborn screening for glutaric aciduria type I is a powerful and cost-effective tool to prevent the manifestation of prognostically-relevant movement disorders in the majority of early diagnosed patients. Full article
Int. J. Neonatal Screen. EISSN 2409-515X Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
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