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In cases where one of the couples carries a chromosomal structural disorder such as a chromosomal translocation or inversion, this situation can lead to infertility, repeated miscarriages, or children suffering from mental retardation or congenital abnormalities. It is possible to use the PGD-NGS technique to diagnose this type of chromosomal abnormalities with Preimplantation Genetic Diagnosis (PGD).
In this method, pregnancy occurs using the reproductive technology of ectopic or laboratory fertilization, and at a certain stage of embryo development in the laboratory, sampling or biopsy of the embryos is performed by separating one or more cells from the embryos. And the genetic investigation is done using the PGD-NGS technique on these cells. In the next step, chromosomally healthy embryos are transferred to the mother's womb.
It should be noted that there is also the possibility of investigating and identifying these types of abnormalities using prenatal diagnosis methods (Prenatal Diagnosis-PND) during pregnancy, but due to the limitations of the PND method, some families want to use These ods.