Laboratory screening for genetic disorders and birth defects

Bamforth, Fiona

doi:10.1016/0009-9120(94)90037-x

Cited by 10 publications

(3 citation statements)

References 122 publications

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“…1 Assays that produce colorimetric changes are ideal since they can be readily discerned either by using absorbance detection with conventional multiwell-plate technology or visually with simple point-of-care devices. 2 Each facilitates rapid analysis to achieve high sample throughput.…”

Section: Introductionmentioning

confidence: 99%

“…A common characteristic of most clinical diagnostic tests is that they rely on technology that can be implemented on a large scale and in a cost-effective manner. 1 Assays that produce colorimetric changes are ideal since they can be readily discerned either by using absorbance detection with conventional multiwell-plate technology or visually with simple point-of-care devices. 2 Each facilitates rapid analysis to achieve high sample throughput.…”

Section: Introductionmentioning

confidence: 99%

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Determination of methylarginines in infant plasma by CE-LIF

Linz

Lunte

2014

Anal. Methods

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Methylarginines (MAs) are a class of nitric oxide synthase inhibitors that have been implicated in respiratory complications of critically ill infants. This paper describes the development of an analytical method to measure these compounds in the plasma of newborns using capillary electrophoresis (CE). The CE separation method was optimized to enable complete baseline resolution of the four MA analogues of interest. Sample preparation concerns for infant-derived samples were addressed by validating a heat-assisted extraction method for the analysis of low volume (≤100 µL) samples from a plasma matrix. It was determined that the sample matrix (plasma versus serum) did not affect the measured MA concentrations, while extracting smaller volumes of plasma that underwent heat-induced gelation afforded higher MA recoveries than larger volume samples. These methods were then applied to blood samples collected from infants housed in the neonatal intensive care unit. It was discovered that these newborns had significantly elevated concentrations of MAs at younger ages (< 6 months) while amounts were similar between infants 6 months old and adults. The data are preliminary, but demonstrate an interesting age dependence on the concentrations of these nitric oxide inhibitors, which has not been previously reported.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Determination of methylarginines in infant plasma by CE-LIF

Linz

Lunte

2014

Anal. Methods

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“…Since the discovery by Guthrie in the early 1960s (1) that the metabolic disease phenylketonuria (PKU) could be detected shortly after birth by measuring the phenylalanine concentration in dried blood spots from the newborn baby an increasing number of screening programs have been developed for a variety of disorders (2)(3)(4). In some countries, states, provinces and regions (in the remainder of this text collectively named "countries") up to nine different diseases are screened for.…”

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confidence: 99%

Quality evaluation of newborn screening programs

Loeber¹

1999

SPAE

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Loeber G, Webster D, Aznarez A. Quality evaluation of newborn screening programs. Acta Paediatr 1999; 88 Suppl 432: 3-6. Stockholm. ISSN 0803-5326In the last four decades in many countries and regions all over the world newborn screening programs have been developed. Traditionally, most programs focus on phenylketonuria and congenital hypothyroidism. However, with development of new technologies, screening for a large variety of other disorders has become available. The decision-making process on what to screen or not to screen for is usually driven by personal interest of the professionals involved, by local legislation and access to funding, resulting in large differences among countries. In general, quality evaluation is only applied to the pure laboratory analytical phase. Less attention is given to the pre-analytical phase (e.g. timely sampling, maximum coverage) and the post-analytical phase (follow-up and treatment, evaluation of long-term effects, cost-effectiveness, etc.). In order to gain more insight into the current situation worldwide we developed a questionnaire which was sent to leading screening centers in more than 30 countries. As expected, the results show large differences in degree of organization, turnover times, completeness of coverage and follow-up. There appears to be no relationship between screening procedures and the degree of legislation or the system of funding. In presenting the more detailed results we hope to be of service to program organizers. & Epidemiology, follow-up, metabolic diseases, newborn, quality, screening JG Loeber, RIVM,

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