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Target Diseases for Neonatal Screening in Germany
Ute Spiekerkoetter1, Heiko Krude
1General Pediatrics, Adolescent Medicine and Neonatology, University Medical Center, Medical Faculty, University of Freiburg; Institute of Experimental Pediatric Endocrinology, Charité-University Medical Center Berlin.
Deutsches Arzteblatt International
|February 10, 2022
Summary
German neonatal screening identifies 19 congenital diseases, including 13 metabolic disorders. Early detection and treatment of these conditions, like primary hypothyroidism and phenylketonuria, significantly improve infant development and quality of life.
Area of Science:
- Medical Genetics
- Pediatrics
- Public Health
Background:
- Neonatal screening in Germany covers 19 congenital diseases, with 13 being metabolic.
- One in 1300 newborns is affected by these target diseases.
- Early diagnosis and treatment are crucial for better development and potentially normal life outcomes.
Purpose of the Study:
- To review the current state of neonatal screening in Germany.
- To highlight the importance of prompt diagnosis and treatment for congenital diseases.
- To discuss the challenges and future directions in screening medicine.
Main Methods:
- A selective literature search was conducted in PubMed and Embase databases.
- Pertinent publications were retrieved and analyzed for the review.
Main Results:
- Approximately 20% of positive screening findings are confirmed.
- Key identified diseases include primary hypothyroidism, phenylketonuria, cystic fibrosis, and MCADD.
- Increasing patient numbers and disease heterogeneity necessitate adapted treatments and specialized care centers.
Conclusions:
- Advances in diagnosis and treatment improve patient longevity.
- Establishing long-term care extending into adulthood is a future priority for screening medicine.
