斯洛文尼亚的新生儿筛查。
Newborn Screening in Slovenia.
作者信息
Šmon Andraž, Grošelj Urh, Žerjav Tanšek Mojca, Biček Ajda, Oblak Adrijana, Zupančič Mirjana, Kržišnik Ciril, Repič Lampr Et Barbka, Murko Simona, Hojker Sergej, Battelino Tadej
机构信息
University Medical Centre Ljubljana, University Children's Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Bohoriceva 20, 1000 Ljubljana, Slovenia.
University Medical Centre Ljubljana, Department of Nuclear Medicine, Zaloska cesta 7, 1000 Ljubljana, Slovenia.
出版信息
Zdr Varst. 2015 Mar 13;54(2):86-90. doi: 10.1515/sjph-2015-0013. eCollection 2015 Jun.
INTRODUCTION
Newborn screening in whole Slovenia started in 1979 with screening for phenylketonuria (PKU). Congenital hypothyroidism (CH) was added into the programme in 1981. The aim of this study was to analyse the data of neonatal screening in Slovenia from 1993 to 2012 for PKU, and from 1991 to 2012 for CH.
METHODS
Blood samples were collected from the heels of newborns between the third and the fifth day after birth. Fluorometric method was used for screening for PKU, CH screening was done by dissociation-enhanced lanthanide fluorescent immunoassay (DELFIA).
RESULTS
From 1993 to 2012, from 385,831 newborns 57 were identified with PKU. 184 newborns out of 427,396 screened from 1991 to 2012, were confirmed for CH. Incidences of PKU and CH in the periods stated are 1:6769 and 1:2323, respectively.
CONCLUSIONS
Successful implementation of newborn screening for PKU and CH has helped in preventing serious disabilities of the affected children. Adding screening for new metabolic diseases in the future would be beneficial.
引言
斯洛文尼亚全国范围内的新生儿筛查始于1979年的苯丙酮尿症（PKU）筛查。先天性甲状腺功能减退症（CH）于1981年被纳入该项目。本研究的目的是分析斯洛文尼亚1993年至2012年PKU的新生儿筛查数据，以及1991年至2012年CH的新生儿筛查数据。
方法
在新生儿出生后第三天至第五天从足跟采集血样。采用荧光法筛查PKU，采用解离增强镧系荧光免疫分析（DELFIA）法进行CH筛查。
结果
1993年至2012年，在385,831名新生儿中，有57名被确诊为PKU。1991年至2012年筛查的427,396名新生儿中，有184名被确诊为CH。上述时期PKU和CH的发病率分别为1:6769和1:2323。
结论
成功实施PKU和CH的新生儿筛查有助于预防患病儿童出现严重残疾。未来增加对新的代谢性疾病的筛查将是有益的。
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