Referenced in: none

Automatically associated channels: Kir6.2

Title: Clinical outcome of preimplantation genetic diagnosis for cystic fibrosis: the Brussels' experience.

Authors: Kathelijn Keymolen, Veerle Goossens, Martine De Rycke, Karen Sermon, Kristel Boelaert, Maryse Bonduelle, André Van Steirteghem, Inge Liebaers

Journal, date & volume: Eur. J. Hum. Genet., 2007 Jul , 15, 752-8

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/17440499

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.