Division of Neuropediatric and Metabolic Medicine, Department of General Pediatrics, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
World J Pediatr. 2018 Oct;14(5):470-481. doi: 10.1007/s12519-018-0159-1. Epub 2018 Jun 15.
Newborn screening (NBS) in Germany currently includes 15 target disorders. Recent diagnostic improvements suggest an extension of the screening panel.
Since August 2016, a prospective study evaluating 26 additional target disorders (25 metabolic disorders and vitamin B-deficiency) in addition to the German screening panel is performed at the Newborn Screening Center Heidelberg. First-tier results from tandem-MS screening are complemented by second-tier strategies for 15 of the additional target disorders. NBS results of seven patients diagnosed symptomatically with one of the additional target disorders by selective screening since August 2016 are retrospectively evaluated.
Over a 13-month period, 68,418 children participated in the study. Second-tier analyses were performed in 5.4% of samples. Only 59 (0.1%) of study participants had abnormal screening results for one of the additional target disorders. Target disorders from the study panel were confirmed in 12 children: 1 3-hydroxy-3-methylglutaryl coenzyme A (CoA)-lyase deficiency, 1 citrullinemia type I, 1 multiple acyl-CoA dehydrogenase-deficiency, 1 methylenetetrahydrofolate reductase-deficiency, and 8 children with maternal vitamin B-deficiency. In addition, six of seven patients diagnosed symptomatically outside the study with one of the target disorders would have been identified by the study strategy in their NBS sample.
Within 13 months, the study "Newborn Screening 2020" identified additional 12 children with treatable conditions while only marginally increasing the recall rate by 0.1%. Maternal vitamin B-deficiency was the most frequent finding. Even more children could benefit from screening for the additional target disorders by extending the NBS panel for Germany and/or other countries.
德国目前的新生儿筛查（NBS）包含 15 种目标疾病。最近的诊断改进表明可以扩展筛查面板。
自 2016 年 8 月以来，在海德堡新生儿筛查中心进行了一项前瞻性研究，评估了德国筛查面板之外的 26 种额外目标疾病（25 种代谢疾病和维生素 B 缺乏症）。串联质谱筛查的一级结果通过针对另外 15 种目标疾病的二级策略进行补充。回顾性评估了自 2016 年 8 月以来通过选择性筛查诊断出的七种患有附加目标疾病之一的症状性患者的 NBS 结果。
在 13 个月的时间内，有 68418 名儿童参加了研究。对 5.4%的样本进行了二级分析。只有 59 名（0.1%）研究参与者的一个附加目标疾病的筛查结果异常。在 12 名儿童中确认了研究面板中的目标疾病：1 例 3-羟-3-甲基戊二酰辅酶 A 裂解酶缺乏症、1 例瓜氨酸血症 I 型、1 例多种酰基辅酶 A 脱氢酶缺乏症、1 例亚甲基四氢叶酸还原酶缺乏症和 8 例母亲维生素 B 缺乏症的儿童。此外，在研究之外通过症状性诊断患有其中一种目标疾病的七名患者中的六名，他们的 NBS 样本也可以通过研究策略识别出来。
在 13 个月内，研究“2020 年新生儿筛查”发现了 12 名患有可治疗疾病的儿童，而召回率仅略有增加（0.1%）。母亲维生素 B 缺乏症是最常见的发现。通过扩展德国和/或其他国家的 NBS 面板，甚至可以有更多的儿童受益于额外目标疾病的筛查。
