1. ¹Centre for Medical Genetics, Vrije Universiteit Brussel, Belgium
2. ²Centre for Reproductive Medicine, Vrije Universiteit Brussel, Belgium

Correspondence: Dr K Keymolen, Centre for Medical Genetics, University Hospital, Vrije Universiteit Brussels, Laarbeeklaan 101, 1090 Brussels, Belgium. Tel: +32 24 776071; Fax: +32 24 776860; E-mail: lgenknk@az.vub.ac.be

Received 26 June 2006; Revised 13 March 2007; Accepted 17 March 2007; Published online 18 April 2007.

Abstract

Preimplantation genetic diagnosis is an alternative for prenatal diagnosis that makes it possible to perform the diagnosis of a chromosomal or monogenic disorder at the preimplantation embryo level. Cystic fibrosis is one of the monogenic diseases for which PGD can be performed. In this study, we looked at the requests and PGD cycles for this particular disorder over an 11-year period. Sixty-eight percent of the requests eventually led to at least one complete PGD cycle. In 80% of the cycles, an embryo transfer was performed and an ongoing pregnancy was obtained in 22.2% of the cycles with oocyte retrieval. After embryo transfer, a couple had 27.8% chance of giving birth to a liveborn child. No misdiagnosis was recorded. The rate of perinatal deaths/stillborn children was relatively high, but no excess of major congenital anomalies was observed in the surviving children.