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Suitable Specimen Types for Newborn Biochemical Screening-A Summary

机译：新生儿生化检查的合适标本类型-摘要

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摘要

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 laboratory facility without significant degradation. Whilst DBSs have largely become the specimen of choice they may not be applicable to all cultures and infrastructures. The majority of disorders appropriate to be identified in the newborn period can be detected in DBSs taken shortly after birth. Some are also detectable in cord blood or urine, some are not. Most disorders have an ideal and often different time window of age for identification in relation to treatment for optimum outcome. When embarking on newborn screening for the first time or in expanding what is already in place, it is important that the disorders considered are evaluated against the Wilson and Jungner criteria for population screening. A brief overview of specimen types including urine, cord blood and DBSs with some of their advantages and limitations is provided in this review to assist in decision-making.
机译：在许多国家，新生儿生化检查已经进行了五十多年，最初是对收集在收集纸（DBS）或尿液上的干皮肤穿刺全血进行苯丙氨酸或苯酮的检测，以鉴定苯丙酮尿症。希望开始进行新生儿筛查的国家需要考虑哪种类型的标本可以提供令人满意的标本和基质来测试与其人群有关的疾病，父母可以接受，并且可以很容易地运送到分析或实验室设施而不会发生重大降解。尽管星展银行已在很大程度上成为选择的标本，但它们可能并不适用于所有文化和基础设施。大多数适合于新生儿期识别的疾病可以在出生后不久服用的DBS中发现。在脐带血或尿液中也可以检测到某些，而在脐带血或尿液中则不能检测到。大多数疾病具有理想的且通常不同的年龄窗口，以便根据最佳结果进行治疗。首次进行新生儿筛查或扩大现有筛查范围时，重要的是要根据Wilson和Jungner的人群筛查标准对所考虑的疾病进行评估。本文简要概述了样本类型，包括尿液，脐带血和DBS，以及它们的一些优点和局限性，以帮助决策。

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