Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

Objective: To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of CAH due to 21-hydroxylase deficiency. Design and methods: A questionnaire was designed and distributed, including 17 questions collecting quantitative and qualitative data. Thirty-six medical centres from 14 European countries responded and 30 out of 36 centres were reference centres of the European Reference Network on Rare Endocrine Conditions, EndoERN. Results: Pdex treatment is currently provided by 36 % of the surveyed centres. The treatment is initiated by different specialties i.e. paediatricians, endocrinologists, gynaecologists or geneticists. Regarding the starting point of Pdex, 23 % stated to initiate therapy at 4 to 5 weeks post conception (wpc), 31 % at 6 wpc, and 46 % as early as pregnancy is confirmed and before 7 wpc at the latest. A dose of 20 µg/kg/d is used. Dose distribution among the centres varies between once to thrice daily. Prenatal diagnostics for treated cases are conducted in 72 % of the responding centres. Cases treated per country and year vary between 0.5 to 8.25. Registries for long-term follow-up are only available at 46 % of the centres that are using Pdex treatment. National registries are only available in Sweden and France. Conclusions: This study reveals a high international variability and discrepancy on the use of Pdex treatment across Europe. It highlights the importance of a European cooperation initiative for a joint international prospective trial to establish evidence based guidelines on prenatal diagnostics, treatment and follow up of pregnancies at risk for CAH.