Das Mukoviszidosescreening wird in Deutschland eingeführt

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• 作者：PD Dr. O. Sommerburg ; B. Lawrenz ; M. A. Mall…
• 关键词：SchlüsselwörterMukoviszidose (zystische Fibrose ; CF) ; Neugeborenenscreening (NGS) ; Pankreatitisassoziiertes Protein (PAP) ; Immunreaktives Trypsinogen (IRT) ; „Tracking“
• 刊名：Monatsschrift Kinderheilkunde
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：165
• 期：1
• 页码：49-54
• 全文大小：
• 刊物类别：Medicine
• 刊物主题：Pediatrics; General Practice / Family Medicine;
• 出版者：Springer Medizin
• ISSN：1433-0474
• 卷排序：165

文摘

Last year the Federal Joint Committee (Gemeinsamer Bundesausschuss, G‑BA) approved the implementation of newborn screening for cystic fibrosis (CF) in Germany. The early diagnosis will result in a significant improvement in treatment and outcome of CF patients. Newborn screening for CF started September 1st 2016. Despite the clear guidelines published by the G‑BA, difficulties in implementation of CF screening can be expected in the beginning. Information for parents, informed consent, reporting of the screening results and initiation of confirmatory diagnostics will be different compared with other targeted diseases of newborn screening and pose challenges for obstetricians, midwives, pediatricians and family doctors. As no uniform tracking system exists in Germany, each physician in the information chain from the screening laboratory through obstetric hospitals to CF centers must be alert to follow up families about a positive CF screening result of their child until the diagnosis of CF is confirmed or excluded. It is therefore important to be informed about this new screening concept and to draw conclusions for the daily routine. This article is intended to provide the necessary information.