Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism.

@article{Conn1999PreimplantationGD,
  title={Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism.},
  author={Clare M. Conn and Jean Cozzi and Jeffrey C. Harper and Robert M. L. Winston and Joy D. A. Delhanty},
  journal={Journal of medical genetics},
  year={1999},
  volume={36 1},
  pages={45-50}
}
The population risk for trisomy 21 is 1 in 700 births but some couples are at a much higher risk owing to parental translocation or mosaicism. We report on the first attempt to carry out preimplantation genetic diagnosis for two such couples using cleavage stage embryo biopsy and dual colour FISH analysis. Each couple underwent two treatment cycles. Couple 1 (suspected gonadal mosaicism for trisomy 21) had two embryos normal for chromosome 21 transferred, but no pregnancy resulted; 64% (7/11… CONTINUE READING

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