Preimplantation genetic test: healthy babies

The risk of miscarriage decreases

Among the emerging techniques in the field of Reproductive Medicine we find the preimplantation genetic test (PGT) or genetic diagnosis, whose purpose is to obtain genetic information from the embryo. This test allows us to analyze the genetic or chromosomal content of the embryos in order to transfer to the maternal uterus only those which do not present anomalies and which have a better chance of achieving implantation.

In this way, we increase the chances of pregnancy in that transfer and decrease the risk of miscarriage. It also allows the transfer of healthy embryos in couples with some hereditary diseases.

It is especially indicated in women over 37 years of age, in the case of low seminal quality in repeated IVF failures and in couples with repeated miscarriages.

What kind of pathologies can be detected?

At Institut Marquès PGT is performed in all our centers using the Next Generation Sequencing (NGS) technique, analyzing all the chromosomes of the embryo. On the one hand, it is performed for the study of chromosomal abnormalities: when one of the two members of the couple is a carrier of a chromosomal abnormality in the karyotype (for example: translocation, inversion,…). In these cases, the embryos are analyzed in order to select those that are healthy or balanced for the chromosomal abnormality studied.

On the other hand, for the study of monogenic hereditary diseases: when one of the two members of the couple is a carrier of a monogenic hereditary disease (for example: cystic fibrosis, muscular dystrophy,…).

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What does it consist of?

This analysis requires embryonic DNA obtained from the biopsy of one or a few cells of these embryos, i.e. they are extracted from the inside of the embryo for analysis. This is a very sophisticated technique, but performed by expert biologists it does not adversely affect the evolution of the embryo.

When PGT is performed at the blastocyst stage (on the fifth day of embryo development), freezing of the embryo is unavoidable while awaiting the results of the test, which usually take 15 days. If PGT is performed on the third day of development, the diagnosis is ready when the embryo reaches blastocyst stage and freezing is not necessary. In this case we call it “Express PGT”.