The Brussels' experience of more than 5 years of clinical preimplantation genetic diagnosis

Hum Reprod Update. 2000 Jul-Aug;6(4):364-73. doi: 10.1093/humupd/6.4.364.

Abstract

This paper describes the 5 years' experience of preimplantation genetic diagnosis (PGD) at the Brussels Free University. Our first PGD was carried out in February 1993. Up to October 1998, we carried out 183 PGD cycles on fresh cleavage embryos of 92 couples for 25 different conditions. Patients were treated for autosomal recessive (n = 39), autosomal dominant (n = 65) and X-linked recessive (n = 47) monogenic disorders as well as for autosomal structural aberrations (n = 10), sex chromosome numerical and structural aberrations (n = 21) and a combination of the two latter (n = 1). Specific diagnosis was carried out by polymerase chain reaction (n = 108). Fluorescence in-situ hybridization was used for sexing (n = 64) and structural aberrations (n = 11). We transferred 1.6 +/- 1.1 embryos per cycle, resulting in an implantation rate of 12.0% per replaced embryo. Ongoing pregnancies were achieved in 29 cycles, i.e. 23 singletons, five twins and one dichorionic triplet with an acardius acranius. The ongoing pregnancy rates per cycle, per transfer and per couple were 16.4, 19.9 and 31.5% respectively. While 28 ongoing pregnancies resulted in the births of 34 infants, one pregnancy was terminated after misdiagnosis. The results of 24 PGD were confirmed by prenatal diagnosis or after birth while no information was available in four pregnancies. Our series demonstrates that PGD is a feasible technique by which to avoid the birth of genetically affected children to couples at risk.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosome Aberrations / diagnosis
  • Chromosome Disorders
  • Embryo Implantation
  • Female
  • Fertilization in Vitro
  • Genetic Diseases, Inborn / diagnosis
  • Humans
  • Male
  • Pregnancy
  • Pregnancy Outcome
  • Pregnancy Rate
  • Preimplantation Diagnosis*
  • Retrospective Studies
  • Sex Preselection
  • Sperm Injections, Intracytoplasmic