Sörensen Lene, von Döbeln Ulrika, Åhlman Henrik, Ohlsson Annika, Engvall Martin, Naess Karin, Backman-Johansson Carolina, Nordqvist Yvonne, Wedell Anna, Zetterström Rolf H
Centre for Inherited Metabolic Diseases, Karolinska University Hospital Solna, SE-171 76 Stockholm, Sweden;
Department of Molecular Medicine and Surgery, Karolinska Institutet, SE-171 76 Stockholm, Sweden.
Int J Neonatal Screen. 2020 May 27;6(2):42. doi: 10.3390/ijns6020042. eCollection 2020 Jun.
Sweden has one neonatal screening laboratory, receiving 115 to 120 thousand samples per year. Among the one million babies screened by tandem mass spectrometry from November 2010 until July 2019, a total of 665 babies were recalled and 311 verified as having one of the diseases screened for with this methodology, giving a positive predictive value (PPV) of 47% and an incidence of 1:3200. The PPV was high (41%) already in the first year after start of screening, thanks to the availability of the collaborative project Region 4 Stork database. The PPV is presently 58%. This improvement was achieved by the implementation of second-tier analyses in the screening for methylmalonic aciduria, propionic aciduria, isovaleric aciduria, and homocystinuria, and the employment of various post analytical tools of the Region 4 Stork, and its successor the collaborative laboratory integrated reports.
瑞典有一个新生儿筛查实验室，每年接收11.5万至12万个样本。在2010年11月至2019年7月期间通过串联质谱法筛查的100万名婴儿中，共有665名婴儿被召回，311名被证实患有通过该方法筛查的疾病之一，阳性预测值（PPV）为47%，发病率为1:3200。由于有第4地区鹳数据库这个合作项目，筛查开始后的第一年PPV就很高（41%）。目前PPV为58%。这一改善是通过在甲基丙二酸血症、丙酸血症、异戊酸血症和高胱氨酸尿症筛查中实施二级分析，以及使用第4地区鹳及其后续合作实验室综合报告的各种分析后工具实现的。
