PREIMPLANTATION GENETIC DIAGNOSIS - PGD

By combining the knowledge of the two disciplines, genetics and embryology, and with the development of techniques and the possibilities of both disciplines, PGD and PGS methods of pre-implantation genetic testing of embryos have been developed.

By combining the knowledge of the two disciplines, genetics and embryology, and with the development of techniques and possibilities of both disciplines, PGD and PGS methods of pre-implantation genetic testing of embryos have been developed.

Thanks to PGD, we are able to specifically investigate an embryo to exclude inherited transmissible diseases that one or both parents are carriers of. Using this diagnostic step, we find the embryos that do not carry the given chromosomal change and we select them for transfer. We thus minimize the risk of the birth of a sick child.

Diagnosis most commonly reveals diseases caused by chromosomal defects, e.g. balancing translocations, monogenic hereditary diseases, and a host of other diseases for which the genetic cause of the disease is known.

Another area we are pursuing is hereditary monogenic disease. These most commonly include cystic fibrosis (CF), haemophilia, spinal muscular atrophy (SMA), or muscular dystrophy.

For genetic analysis, we remove several cells for examination in a genetic laboratory from the embryo usually on the fifth day after fertilization. From the collected cells, we examine the embryonic DNA and, based on the result of the examination, determine the next fate of the embryo. Only embryos without the risk of a particular disease are intended for transmission to the uterus.

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