[Preimplantation genetic diagnosis].

Zhonghua Fu Chan Ke Za Zhi

Reproductive Medical Research Center, Shandong Institute for Family Planning, Jinan 250002, China.

Published: November 2002

AI Article Synopsis

  • The study aims to assess how effective preimplantation genetic diagnosis (PGD) with fluorescence in situ hybridization (FISH) is for couples at high risk for genetic diseases.
  • Four couples underwent ovarian hyperstimulation, and embryos were biopsied at 6-8 cell stages to perform genetic testing.
  • The results showed that out of 12 embryos biopsied, 8 were transferred, leading to one successful pregnancy with a healthy female infant, highlighting PGD's value in preventing genetic disorders.

Article Abstract

Objective: To evaluate the clinical effectiveness of preimplantation genetic diagnosis (PGD) for the couples having a higher risk of genetic diseases with fluorescence in situ hybridization (FISH).

Methods: Ovarian hyperstimulation, oocyte retrieval and in vitro fertilization were performed in 4 cases. Blastomere biopsy were performed from the embryos at the 6 - 8 cell stage. Genetic diagnosis was identified by single blastomere FISH. The female embryos or normal embryos were transferred into uterus.

Results: Twelve embryos were available for embryo biopsy. Twenty cells were collected. Seventeen nuclei were found after fixation. Hybridization signals of 11 embryos were clear and 8 embryos were transferred into uterus. One clinical pregnancy was achieved, and 1 normal female infant was delivered on september 14, 2001.

Conclusion: PGD is very valuable for avoiding selective abortion and birth of affected child of the couples having a higher risk of genetic diseases by detecting embryo sex and chromosome number using FISH.

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