Updating guidelines for the diagnosis of fetal alcohol spectrum disorders (FASD) in Poland

The prevalence of fetal alcohol spectrum disorders (FASD) in Poland is about 2%, but the prevalence of prenatal alcohol exposure (PAE) is much higher than previously reported. In the absence of a single biomarker or imaging test that can confirm the diagnosis, the identification of FASD relies on clinical diagnostic criteria; therefore, the first Polish diagnostic standards were developed in 2020.

To present the process of updating the national diagnostic guidelines for FASD in Poland and discuss the key revisions made based on clinical implementation feedback.

The work was carried out by the members of the Council for FASD Prevention and Treatment at the National Centre for Addiction Prevention in 4 steps: 1) a pilot implementation study; 2) a structured literature review supporting the update; 3) a formalized expert consensus process; and 4) stakeholder consultation.

The updated guidelines include the following sections: Introduction, Methodology, Diagnostic categories, Diagnostic scheme, Ethical considerations, Evaluation of PAE, Evaluation of facial dysmorphism, Evaluation of growth impairment, and Evaluation of the central nervous system (CNS). Appendices containing practical tools useful in the diagnostic procedure are an important element of the recommendations. Key amendments include the introduction of the partial fetal alcohol syndrome (pFAS) diagnostic category; the addition of biomarker analysis as a tool to confirm PAE; simplification of the assessment of facial dysmorphologies; clarification of CNS evaluation; and discussion of the ethical concerns associated with FASD diagnosis.

The updated national guidelines may improve the quality and standardization of FASD diagnosis not only in Poland, but also worldwide. The practical utility of each recommendation should be continuously monitored, validated, and updated.