Type 1 Diabetes: Nearly 2,500 Children Already Screened in the Baby D1Ce Study

Baby D1Ce was created with a clear objective: to extend screening for type 1 diabetes and celiac disease to preschool-aged children, a group that is currently not included in the programme established under the implementing decree of Italian Law 130/2023.

The law, the first in the world to establish a national paediatric screening programme for these 2 conditions, represents an important step towards promoting early diagnosis.

However, in younger children the onset of type 1 diabetes can be particularly rapid and severe, with a higher risk of diabetic ketoacidosis.

The study involves 5,000 children: 4,000 in Lombardy, 500 in Sardinia and 500 in Apulia.

The project builds on the experience of D1Ce Screen, the pilot study coordinated by the Istituto Superiore di Sanità, which demonstrated the feasibility of a screening model based on the involvement of family paediatricians.

Screening is carried out using a small finger-prick blood sample, collected during a routine visit to the family paediatrician.

The samples are then analysed by the Autoimmunity Laboratory at IRCCS Ospedale San Raffaele. If the screening test is positive for autoantibodies associated with type 1 diabetes or celiac disease, the family is referred to the relevant regional referral centre for further assessment.

It is important to emphasise that a positive screening test does not constitute a diagnosis: confirmation requires specific clinical investigations.

One of the innovative aspects of Baby D1Ce is the assessment of 2 different sample collection methods:

• a microcollection tube;
• a dried blood spot (DBS) card.

If validated, the latter could simplify sample collection, storage and transport, helping to facilitate the expansion of screening on a national scale.

The project will also assess costs, organisational aspects and the psychological impact of screening on families, with the aim of providing the Regions with useful information for the future implementation of the law.

“The Baby D1Ce study represents a further building block in the development of the broader national screening programme.

Early childhood is a particularly vulnerable age group with regard to the risk of diabetic ketoacidosis at the clinical onset of type 1 diabetes. It is also characterised by an unexpectedly high frequency of autoimmunity associated with celiac disease.

The project will also allow us to assess the potential use of dried blood spot cards for capillary blood collection: if confirmed, this could represent an important simplification, making screening easier to access and implement nationwide,” explains Professor Emanuele Bosi, Director of the Diabetes Service at IRCCS Ospedale San Raffaele.

With Baby D1Ce, efforts therefore continue to make early detection increasingly accessible, helping families identify a possible risk condition promptly and enter the most appropriate pathway for further assessment and care.