[Preimplantation genetic diagnosis (PGD): the Erasme Hospital experience]

Rev Med Brux. 2008 Nov-Dec;29(6):527-34.
[Article in French]

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.

Publication types

  • English Abstract

MeSH terms

  • Abortion, Habitual / genetics
  • Abortion, Spontaneous / genetics*
  • Aneuploidy
  • Belgium
  • Chromosome Aberrations / embryology*
  • Female
  • Fertilization in Vitro / methods
  • Humans
  • Ovum / physiology*
  • Pregnancy
  • Preimplantation Diagnosis*
  • Sex Chromosome Disorders / embryology
  • Sex Chromosome Disorders / genetics