Preimplantation genetic diagnosis for the prevention of sickle cell disease: current trends and barriers to uptake in a London teaching hospital

Abstract

Introduction: Sickle cell disease (SCD) is a clinically significant hemoglobinopathy with increasing global incidence. We describe our experience of using pre-implantation genetic diagnosis (PGD) for the prevention of SCD at a tertiary referral centre in London.

Methods: Between January 2002 and December 2007, of 78 at-risk couples referred for PGD treatment, 12 couples (15%) underwent 16 PGD cycles for the prevention of SCD. RESULTS. The live birth rate was 13% per initiated cycle, 18% per embryo transfer and 17% per couple.

Conclusions: Although PGD for prevention of the birth of a child affected by SCD is a viable treatment option for couples at risk of having an affected child, potential barriers to uptake of this service need to be fully addressed to ensure its availability to all couples seeking to avoid having a child affected with SCD.