PGT – Pre-implantation Genetic Testing

Preimplantation Genetic Testing (PGT) allows to detect genetic diseases or chromosomal abnormalities in embryos obtained by means of an assisted reproduction treatment before they are transferred into the uterus.

Preimplantation Genetic Testing for Aneuplodies  (PGT-A) allows to detect aneuploidies, that is anomalies concerning the number of chromosomes. Aneuploidies are especially common in couples of advanced reproductive age or with other specific risk factors and they can cause treatment failures, miscarriages or fetal abnormalities in case of pregnancy.

Preimplantation Genetic Testing for Monogenic diseases (PGT-M)  allows to detect the presence of a specific genetic disease and it is indicated in case one or both partners suffer from a hereditary genetic disease or are carriers of it.

Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) allows to detect robertsonian and /or reciprocal translocations in embryos and it is indicated when one or both partners are carriers of this kind of structural rearrangements and are at risk of transmiiting it to their offsprings.

In all cases, blastocoelic fluid or a sample of cells from each embryo are analyzed with the aim of transferring only normal and non-affected embryos.

Apart from a standard IVF/ICSI procedure, PGT requires embryo cryopreservation and frozen embryo replacement once the results of the analysis are available. In some cases, in order to obtain a suitable amount of embryos for analysis, it might be necessary to perform more than one oocyte retrieval (embryo banking).

PGT-M requires a preliminary feasibility study (set-up) to prepare the biological material needed for the subsequent disease analysis.

PGT requires sophisticated technology, highly-specialized staffand a dedicated organiztion and therefore it is indicated for couples at increased reproductive risk.

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SISMeR provides its patients with useful information on topics related to infertility and Medically-Assisted Procreation techniques. For this, it has published a series of booklets that are given to patients when they visit their SISMeR Centre.