首页> 外文期刊>Molecular Genetics and Metabolism Reports >Comments on ‘Newborn screening in southeastern Europe’ published in Molecular Genetics and Metabolism, 2014 Sept–Oct;113(1–2):42–45 by U. Groselj, M. ZerjavTansek, A. Smon, N. Angelkova, D. Anton, I. Baric, M. Djordjevic, L. Grimci, M. Ivanova, A. Kadam,
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Comments on ‘Newborn screening in southeastern Europe’ published in Molecular Genetics and Metabolism, 2014 Sept–Oct;113(1–2):42–45 by U. Groselj, M. ZerjavTansek, A. Smon, N. Angelkova, D. Anton, I. Baric, M. Djordjevic, L. Grimci, M. Ivanova, A. Kadam,

机译:U. Groselj,M. ZerjavTansek,A. Smon,N. Angelkova,D.发表于《分子遗传学和代谢》,2014年9月至10月;“东南欧新生儿筛查”的评论,2014年9月至10月; 113(1-2):42-45。安东·I·巴里奇·M·乔乔维奇·L·格里姆奇·伊万诺娃·A·卡丹

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One year ago, a study for assessment of the current state of newbornscreening (NBS) in the region of southeastern Europe, focusing also onthe future plans, was published [1]. We would like to correct data forthe NBS program, future plans, and also GDP per capita in Macedonia.Methodology of data collection is questionable since ISNS (InternationalSociety for Neonatal Screening) has not been included as a dataresource. The authors claimed that PKU newborn screening was notintroduced in 4 of 11 countries: Albania, Kosovo, Macedonia, andMontenegro, and that in the Macedonia there aren't plans to expandNBS in the next 5 years [1]. However, inMacedonia a selective newbornscreening for inborn errors of metabolism, including PKU, by tandemmass spectrometry, has been implemented. In 2012, a total of 4072newborns from six bigger nurseries, were screened (17.14%) and twonewborns with inborn errors of metabolism (phenylketonuria andhypermethioninemia) were detected. Metabolic newborn screening isperformed under an external independent quality control by CDC(Centers for Disease Control and Prevention, www.cdc.gov) Atlanta,USA. On the other side, the experience with the newborn screeningfor congenital hypothyroidism in Macedonia has been reportedpreviously [2].
机译:一年前,发表了一项评估东南欧地区新生儿筛查(NBS)现状的研究,同时也着眼于未来计划[1]。我们希望为NBS计划,未来计划以及人均马其顿的人均数据进行更正。由于ISNS(国际新生儿筛查学会)未作为数据资源包括在内,因此数据收集的方法存在疑问。作者声称,在11个国家中的4个国家(阿尔巴尼亚,科索沃,马其顿和黑山)未进行PKU新生儿筛查,并且在马其顿没有计划在未来5年内扩大NBS [1]。然而,在马其顿,已经通过tandemmass光谱法对包括PKU在内的先天性代谢错误进行了选择性新生儿筛查。 2012年,对来自六个大型托儿所的4072名新生儿进行了筛查(17.14%),并检测到两个新生儿存在先天性代谢错误(苯酮尿症和高蛋氨酸血症)。代谢性新生儿筛查是在美国亚特兰大CDC(疾病控制与预防中心,www.cdc.gov)的外部独立质量控制下进行的。另一方面,先前已经报道过对马其顿进行先天性甲状腺功能减退症的新生儿筛查的经验[2]。

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