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PFM.18 UK variation in prenatal management of Congenital Adrenal Hyperplasia
  1. CL Mercer1,
  2. M Coleman2,
  3. J Davies3,
  4. DG Wellesley1
  1. 1Wessex Clinical Genetics Service, Southampton, UK
  2. 2Wessex Fetal Medicine Unit, Southampton, UK
  3. 3Paediatric Endocrinology, UHS, Southampton, UK

Abstract

Introduction Congenital adrenal hyperplasia (CAH) is a relatively common condition with a population carrier frequency of 1:50. Antenatal administration of dexamethasone treatment has been used to reduce virilisation in affected female offspring. There is however, considerable national/international variability regarding this treatment, including significant concerns about the potential maternal and fetal side effects.

Methods A questionnaire including 3 clinical scenarios was devised covering aspects of prenatal management in cases of CAH. This was designed to identify opinions and management strategies in cases with a familial diagnosis of CAH. Confidence in the effectiveness of dexamethasone in the prevention of virilisation was also questioned. A link to the Survey Monkey questionnaire was circulated via fetal, obstetric, genetic and paediatric endocrinology specialists. Replies were then collated and assessed.

Results 64 practitioners replied (19.7% Consultant Geneticists, 16.4% Consultants in Fetal Medicine, 44.3% Consultant Obstetricians, 14.8% other health care professionals). The results demonstrated significant uncertainty and variation in clinical management. Many recommended discussing with colleagues and or seeking further advice and guidance.

Conclusion There is no nationally consistent approach to prenatal and post natal diagnosis and management of mothers and babies at risk of CAH. Provision of a national consensus guideline statement regarding care and management might lead to a more uniform and appropriate clinical approach.

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