Molecular Human Reproduction, Vol. 6, No. 3, 199-206,
March 2000
© 2000 European Society of Human Reproduction and Embryology
Genetic diagnosis |
Preimplantation genetic diagnosis of a reciprocal translocation t(3;11)(q27.3;q24.3) in siblings*
1 Research Institute Growth & Development (GROW), Maastricht University, 2 Department of Obstetrics and Gynaecology, Academic Hospital, Maastricht, 3 Department of Molecular Cell Biology & Genetics, Maastricht University, Maastricht, The Netherlands
Abstract
Preimplantation genetic diagnosis (PGD) was performed in two couples to avoid chromosomally unbalanced progeny in a family in which a brother and a sister carry an identical maternally inherited balanced translocation t(3;11)(q27.3;q24.3). Embryos were biopsied 3 days after fertilization and blastomeres were analysed by fluorescent in-situ hybridization (FISH). Embryos were classified as unbalanced or normal/balanced. In the first case, the male carrier and his wife underwent one IVF/PGD treatment cycle. In all, 18 embryos were analysed. Of those, 15 revealed an unbalanced karyotype. For one embryo, results were not conclusive, from one embryo results were contradictory and one embryo was classified as normal/balanced and subsequently transferred. A singleton pregnancy was achieved. The PGD analysis was confirmed at 16 weeks gestation by amniocentesis. At term, a healthy girl with a balanced karyotype was born. Pregnancy and delivery were without complications. In the second case, the female carrier and her husband underwent two IVF/PGD treatment cycles. During the first cycle, three embryos were analysed. One embryo revealed an unbalanced karyotype and two embryos were designated a normal/balanced karyotype and transferred but no pregnancy was achieved. During the second PGD cycle three embryos were analysed. Of those, none appeared suitable for transfer. The couple decided not to undergo further treatment. Our results indicate that for individuals carrying a reciprocal translocation PGD is a feasible approach to obtain embryos with a normal chromosome balance and to avoid both spontaneous and induced abortion.
fluorescent in-situ hybridization/preimplantation genetic diagnosis/single cell diagnosis/translocation
Notes
4 Present address: IVF laboratory, Dijkzigt Hospital, Rotterdam, The Netherlands
5 To whom correspondence should be addressed at: Academic Hospital Maastricht, Dept. Obstetrics & Gynaecology, IVF laboratory, PO Box 5800, 6202 AZ Maastricht, The Netherlands
* Data presented in part at the 14th annual meeting of the European Society for Human Reproduction and Embryology (ESHRE), Göteborg, Sweden, June 21–24, 1998