Gene and chromosome diagnostics based on the embryo. A small number of couples may have singular genetic or chromosome errors which cause infertility. These errors may be apparent both in male and female gametes. Some of these errors may be detected by examining the family medical history, but some are newly generated and are discovered only when the couple in question is thoroughly examined. In some cases, analyses of blood samples by both partners can give information on the genetic background of infertility; in some cases, singular gene tests can be done in order to determine the causes of infertility. All gene and cromosome errors do not, however, mean that the situation would be hopeless with respect to the embryos: one only needs to find a healthy embryo for the transfer! A method called embryo biopsy followed by genetic analysis of the embryo (PGD, preimplantation genetic diagnosis) has been developed to solve this problem. Normally one or two biopsied cells from an 8-cell stage embryo are analysed for suspected gene or chromosome errors. After the analysis those one or two embryos that prove to be normal with respect to the error in question are selected for the transfer. This procedure can also be done later by amniocentesis or placental villus biopsy, but at this stage the fetus is already implanted in the uterus. The embryo biopsy techique is in use in our clinic, but its use requires a specific, real need. It is not possible to choose the sex of the embryo based on the wishes of the parents only, for instance.
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