The University Hospital in Wroclaw is running an early detection programme for developmental defects in newborns and infants. This initiative helps shorten the path to diagnosis and ensures early therapy for children under 12 months of age across Lower Silesia.
Since the programme started in May 2023, it has already supported more than 700 children from across the region, and by the end of the year, the clinic may take in several hundred more of the youngest patients. The initiative is financed by the Marshal’s Office of the Lower Silesia Region. Experts emphasise that early diagnosis is the foundation of effective therapy.
The basis of any therapy is diagnosis, which must by definition be fast and effective, says Prof. Robert Śmigiel, Head of the Department of Paediatrics, Endocrinology, Diabetology and Metabolic Diseases at the University Hospital in Wroclaw. In rare diseases this is a complex challenge, but our experience shows that investment in this area simply pays off. Everyone benefits – the patient, the family, the doctors and the healthcare system.
He adds that early recognition of developmental disorders has a huge impact on a child’s further life. It allows not only for early treatment, but also for appropriate therapeutic and psychological support for the entire family.
Since the beginning of 2024, the clinic’s team has carried out 1,041 medical consultations, 511 psychological consultations, 82 diagnostic ultrasound examinations, 160 physiotherapy consultations and 175 comprehensive genetic tests.
WES solo and trio tests as well as NGS panels are tools that make it possible to diagnose where other methods fail. Thanks to them we have been able to identify rare genetic diseases and start treatment at an early stage, which in many cases can halt or limit the disease’s progression, adds Prof. Śmigiel.
Life-changing stories
One example of the programme’s effectiveness is the story of Leon, a boy born with achondroplasia – a rare genetic disorder leading to short stature.
In standard conditions his diagnosis could have taken months or even years. Thanks to the pioneering early-detection programme, neonatologists quickly contacted our team. Leon not only received a rapid diagnosis, but as one of the first patients in the region was included in an innovative drug programme. Today he has a chance for normal life and development, says Marlena Telenga, project coordinator.
Leon’s story is only one of many. Among the children examined are also Pola, Marysia and Adaś – patients for whom early detection of developmental disorders enabled swift introduction of treatment and comprehensive specialist care.
According to screening programme data from early September, the diagnostic effectiveness of genetic tests reaches 68 per cent. This means that for nearly seven out of ten children a genetic cause of health problems is found – a result that in clinical practice is considered very high.
Free diagnostics still available
Children under 12 months of age residing in Lower Silesia can be enrolled in the programme. Importantly, no referral from a specialist or long treatment history is required.
Any parent, doctor or therapist who has any concern regarding a young patient’s development can register with us, explains Marlena Telenga. We admit children with problems that appeared immediately after birth as well as those that became apparent later – such as hearing defects, organ anomalies or psychomotor development delays. If a child’s development raises doubts – it’s worth applying.
The programme also covers children in foster care or in the process of adoption. In such cases, prompt diagnostics make it possible to confirm or exclude genetic causes of health problems, such as fetal alcohol spectrum disorder (FAS). This in turn significantly accelerates adoption procedures and increases the child’s chances of finding a new home.
How to apply?
Applications for the programme run by specialists at the University Hospital in Wroclaw are accepted without referral.
In an email, please provide:
- the child’s name and surname
- legal guardian’s details
- contact telephone number
- a short description of observed symptoms and, if possible, attach existing medical documentation.
Send the email to: koordynator.program@usk.wroc.pl
After review by the medical consortium, the coordinator contacts the guardian to arrange an individual diagnostic pathway and testing dates.
text and photo: University Hospital, Wrocław