title: [Preimplantation genetic diagnosis (PGD): the Erasme Hospital experience].
abstract: The clinical activity of the preimplantation genetic diagnosis (PGD) at Erasme Hospital was carried out since September 1999 for a 47,XYY patient. Up to 31 December 2007, 79 PGD cycles were carried out (45 couples) for either chromosomal structural abnormalities (robertsonian and reciprocal translocations, pericentric inversion, deletion) (n = 41), chromosomal numerical abnormalities (47,XXY, 47,XYY, 45,X/46,XX) (n = 10), aneuploidy screening for recurrent miscarriages or multiple in vitro fertilization failures (n = 10), autosomal recessive diseases (cystic fibrosis and sickle cell anaemia) (n = 12) or X-linked disorders (n = 6). A total of 475 embryos were biopsied for genetic analysis. Unaffected embryos were transferred in 58 cycles, resulting in 22 pregnancies, including fifteen clinical pregnancies. Up to now, 9 babies were born and 3 pregnancies are still ongoing. After a learning curve, our current PGD efficiency shows a total pregnancy rate per transfer of 60.0% and an implantation rate of 28.6%. Each PGD result was confirmed by prenatal or postnatal diagnosis. Our data demonstrate that PGD is a valid technique to allow couples at high risk of transmitting a genetic abnormality to increase their chances of a healthy pregnancy, but considering its complexity, patients must be counselled and selected rigorously.
authors.affiliation: Clinique de Fertilité, Service de Gynécologie-Obstétrique, Hôpital Erasme, Bruxelles. ergonzal@ulb.ac.be
authors.forename: E
authors.initials: E
authors.lastname: Gonzalez-Merino
authors.forename: S
authors.initials: S
authors.lastname: Emiliani
authors.forename: B
authors.initials: B
authors.lastname: Pichon
authors.forename: J
authors.initials: J
authors.lastname: Parma
authors.forename: A S
authors.initials: AS
authors.lastname: Vannin
authors.forename: A
authors.initials: A
authors.lastname: Delbaere
authors.forename: G
authors.initials: G
authors.lastname: Vassart
authors.forename: M
authors.initials: M
authors.lastname: Abramowicz
authors.forename: Y
authors.initials: Y
authors.lastname: Englert
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics; D000022:Abortion, Spontaneous / Q000235:genetics*; D000782:Aneuploidy; D001530:Belgium; D002869:Chromosome Aberrations / Q000196:embryology*; D005260:Female; D005307:Fertilization in Vitro / Q000379:methods; D006801:Humans; D010063:Ovum / Q000502:physiology*; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D025064:Sex Chromosome Disorders / Q000196:embryology / Q000235:genetics