Pre-implantation genetic diagnosis and trofectoderm biopsy

What is it?

Pre-implantation genetic diagnosis (PGT) allows the evaluation of the embryo from a genetic point of view. In particular, PGT for aneuploidies (PGT-A) allows the detection of chromosomal aneuploidies; PGT for monogenic diseases (PGT-M) evaluates the predisposition for that particular genetic disease, and finally, PGT-SR allows the detection of structural chromosomal alterations (PGT-SR). This technique has allowed thousands of couples (both fertile and not) who are carriers and/or affected by genetic diseases to have healthy children.

When is this procedure indicated?

Pre-implantation genetic diagnosis is indicated to couples:

  • subfertile/ infertile in whose reproductive history there are three or more implantation failures;
  • subfertile/ infertile in whose reproductive history there are three or more spontaneous abortions, not due to mechanical/anatomical causes;
  • fertile or infertile copules in which at least one of the two partners is affected by a monogenic disease, or has structural chromosomal abnormalities;
  • fertile or infertile couples with a child affected by genetic disease.

How is it performed?

The embryo at the blastocyst stage, i.e. 5-7 days after fertilization, is composed of the inner cell mass (ICM), which will give rise to the fetus, and the trophectoderm (TE), which will give rise to the placenta and embryonic adnexa. Blastocyst biopsy is performed, which consists of taking 6-10 TE cells using micromanipulation techniques. This portion of the embryo has the same genetic makeup as ICM, so the genetic analysis carried out on the fragment taken is sufficient to diagnose whether the embryo is affected, healthy carrier or not affected by a specific genetic disease. While waiting for the genetic report, the blastocyst is cryopreserved. Embryos that are euploid, i.e. without any genetic or chromosomal abnormality, can then be thawed and transferred into the uterus.


No other than of the medically assisted reproduction cycle.

Are you interested in receiving the treatment?

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