Bavarian State Office for Health and Food Safety: Health Reporting, Epidemiology, Social Medicine, Child Health, Screening Center, Oberschleißheim; Institute for Experimental Pediatric Endocrinology, Charité-University Medical Center Berlin; Department of Child Nutrition, Federal Research Institute of Nutrition and Food, Max Rubner Institute, Karlsruhe; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf; The Hospital for Sick Children and University of Toronto, Canada; Neonatal Metabolic Screening, Hessian Center for Preventive Care in Children, Screening Center; Hesse, University Hospital Frankfurt/Main.
Dtsch Arztebl Int. 2021 Feb 19;118(7):101-108. doi: 10.3238/arztebl.m2021.0009.
The purpose of neonatal screening is the early detection of congenital metabolic and endocrine disorders that, if untreated, could lead to fatal crises or other long-term adverse sequelae. In Germany, neonatal screening is legally regulated. Quality-assurance reports ("DGNS reports") are created and published annually by the German Society for Neonatal Screening (Deutsche Gesellschaft für Neugeborenen-Screening). Data from the DGNS reports for the years 2006-2018 serve as the basis of the present publication.
For the years 2006-2018, prevalences were calculated and data on process quality were evaluated.
Among 9 218 538 births, 6917 neonates were identified who had one of the target diseases. The overall prevalence was 75 per 100 000 neonates; the disorders most commonly found were congenital hypothyroidism (30 per 100 000) followed by phenylketonuria (PKU) and medium-chain acyl-CoA dehydrogenase deficiency (MCAD) (10 per 100 000 each). Of the 272 205 follow-up screenings requested, 80% were received. The rate of positive screening findings (recall rate) declined over the observation period, from 0.90% in 2006 to 0.37% in 2018. For every five positive screening findings, one case of a target disorder was confirmed. 79% of the children for whom treatment was indicated began to receive treatment within two weeks.
The low recall rate and the early initiation of treatment in 79% of the affected children indicate that neonatal screening for metabolic and endocrine disorders in Germany is effective. The incorporation of tracking structures and the introduction of a registry could further improve the quality of the program.
新生儿筛查的目的是早期发现先天性代谢和内分泌疾病，如果不加以治疗，这些疾病可能导致致命危机或其他长期不良后果。在德国，新生儿筛查受到法律监管。德国新生儿筛查协会（Deutsche Gesellschaft für Neugeborenen-Screening）每年都会创建和发布质量保证报告（“DGNS 报告”）。本出版物以 2006 年至 2018 年的 DGNS 报告数据为基础。
对 2006 年至 2018 年的数据进行了患病率计算，并对过程质量数据进行了评估。
在 9 218 538 例出生中，有 6917 例新生儿患有目标疾病之一。总体患病率为每 10 万新生儿中有 75 例；最常见的疾病是先天性甲状腺功能减退症（30/10 万），其次是苯丙酮尿症（PKU）和中链酰基辅酶 A 脱氢酶缺乏症（MCAD）（各 10/10 万）。在 272 205 次随访筛查中，有 80%的筛查结果得到了反馈。筛查结果呈阳性（召回率）的比例在观察期间有所下降，从 2006 年的 0.90%降至 2018 年的 0.37%。每五个阳性筛查结果中，就有一个确诊为目标疾病。有治疗指征的儿童中有 79%在两周内开始接受治疗。
低召回率和 79%的受影响儿童早期开始治疗表明，德国对代谢和内分泌疾病的新生儿筛查是有效的。纳入跟踪结构和引入登记册可以进一步提高该计划的质量。
