Pre-implantation genetic diagnosis methods (PGT)

Ensuring your child’s good health is our top priority.

Next Fertility has a unit specialized in reproductive genetics. Our goal is to diagnose and prevent chromosomal abnormalities and genetic diseases present in both the parents and the embryo before implantation in the maternal uterus.

Thanks to advances in assisted reproduction and genetics, we can avoid repeated miscarriages, embryo implantation problems and avoid the presence of genetic diseases in the embryo and future baby.

What is it?

Pre-implantation genetic diagnosis (PGT) techniques are used in assisted reproduction to detect abnormalities in the genetic material of embryos. This is a complementary technique that can be applied during in vitro fertilization (IVFET/ICSI).
In this way, the transfer of embryos with genetic or chromosomal alterations implying a high probability of developing some genetic disease or with little hope of continuing their development in the maternal uterus can be avoided.

What does it entail?

It consists of taking a biopsy of the cells of the embryo before it is transferred to the uterus and studying them in the genetic diagnosis laboratory so as to identify embryos that are carriers of a certain genetic disease.

When is it indicated?

  • When there is a risk of transmission of an inherited genetic disease to offspring
  • When there is a previous child affected by a hereditary disease
  • After several implantation failures
  • In cases of advanced maternal age
  • Repeated miscarriages
  • Other

What does PGT allow?

  • Improved embryo selection by knowing which embryos do not have alterations
  • Reduced risk of miscarriage, by avoiding the transfer of embryos with low implantation probability
  • Reduced costs and number of treatments, since embryos with genetic alterations will not need to be frozen and transferred, once known to be inefficient

Are there different types of PGT?

1

Pre-implantation genetic test for the detection of aneuploidies (PGT-A)

This enables the detection of numerical alterations, namely, if there are extra or missing chromosomes in the embryos. Down’s syndrome, for example, occurs when, instead of having two chromosomes for pair 21, there are three (trisomy 21). Other chromosomal aneuploidies (one extra or missing chromosome) are trisomy 18, trisomy 15 or 47 and XXY (Klinefelter’s syndrome).

2

Pre-implantation Genetic Test for the detection of monogenic diseases (PGT-M)

This is recommended when the parents are carriers of a hereditary disease. This technique enables the detection of an alteration or mutation in the gene that causes the disease.
This test analyses various types of inherited diseases – autosomal recessive, autosomal dominant and X-chromosome related diseases –, such as cystic fibrosis, Huntington’s disease, fragile X syndrome, haemophilia A, sickle cell anaemia and Marfan’s disease.

3

Preimplantation Genetic Testing for detection of structural chromosomal alterations (PGT-SR)

This test identifies those embryos that have abnormal chromosomes, either due to a break in the chromosomes themselves or because an incorrect union of segments has occurred.
These structural chromosomal abnormalities are of many types: deletions, translocations, duplications, insertions, inversions, etc. The disease occurs in cases where the gene cannot express itself correctly due to an alteration in the structure of the chromosome.

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