Aneuploidies are defined as chromosomal alterations that embryos can present, which can lead to genetic diseases in future offspring and even be incompatible with life.
IVF-Life's track record, our techniques, and the experience and protocols our specialists employ are the factors that will enable us to diagnose these abnormalities and, consequently, prevent their development.
Aneuploid embryos are those that harbour certain variations in their genetic content that make them unsuitable for transfer to the patient’s uterus.
The karyotype of a person, or, in other words, the set of chromosomes that each person possesses, is made up of 23 pairs of chromosomes, 22 of which are named autosomal and the remaining pair corresponds to the so-called sex chromosomes (XX in the case of women and XY in the case of men).

One of the most common examples of aneuploidy detected in embryos regarding the number of autosomal chromosomes is Down’s syndrome, which involves a trisomy of chromosome 21 (having three copies of chromosome 21 instead of two). While people with this condition currently have a life expectancy of up to 65 years, according to experts in the field, others do not have the same prognosis.
Other common trisomies are Edwards’ syndrome (presence of an extra chromosome 18) and Patau syndrome (trisomy of chromosome 13), where in both cases the newborn usually passes before reaching their first year of life.
On the other hand, aneuploidies linked to the sex chromosomes include:

Numerous investigations have been carried out over the years regarding this matter, with the aim of finding out what factors trigger the appearance of aneuploidy. The reason most supported by experts is linked to the production of the gametes - eggs and spermatozoa – also being particularly relevant the extent to which ovogenesis is influenced by the woman’s age.
As is well known, the older a woman is, the more difficult it becomes to achieve a pregnancy that does not lead to complications and that is successfully carried to term. Similarly, the rate of embryonic aneuploidy increases considerably, especially after the age of 39, when almost 50% of the embryos that are generated have some kind of anomaly.
Although a small percentage of these may have the capacity to implant, it is common for them to end up leading to miscarriage and, if this does not occur, the baby will be born with the corresponding alteration. Due to this reason, specialists in reproductive medicine always recommend the use of aneuploidy diagnosis techniques in order to guarantee a simpler, more pleasant process, which also will not take too long.
Assisted reproduction offers experts and their patients the option of detecting aneuploidy in embryos through one of the techniques included in the so-called preimplantation genetic testing, specifically PGT-A (Preimplantation genetic testing for aneuploidy).
In order to carry it out, it is necessary to perform a biopsy of the trophectoderm cells of the embryos generated in an In vitro fertilisation treatment, when these are at day 5 of their development, that is, in the blastocyst stage. By analysing this sample, the specialised laboratory will provide information on the chromosomal content of the embryo and its viability before the transfer stage is reached. There are 3 possible results that can be obtained following preimplantation genetic testing PGT-A , all of which are detailed below.
As explained throughout the article, aneuploid embryos are those whose content shows some alteration in the number of autosomal or sex chromosomes, either a loss or a gain, and are therefore considered unsuitable for embryo transfer.
Conversely, euploid embryos are those containing 23 pairs of chromosomes and are those that are transferred to the maternal uterus or cryopreserved for this purpose in future cycles.

In addition to those already mentioned, there is another type of result that can occur: embryonic mosaicism. This means that the embryo contains two types of cells: some with abnormalities and others that are chromosomally "normal."
Mosaicism can occur in any type of cell in the body (somatic or germ cell) and occurs due to errors in cell division.
Mosaic embryos contain a mixture of chromosomally normal (euploid) cells and other abnormal (aneuploid) cells. These are not usually embryos that are chosen for transfer, but it is possible to choose to transfer them if there are no euploid embryos at all in the chamber.
This decision should only be made with the authorisation of the relevant specialists and after the woman or couple has been fully informed of the associated risks.
Many patients ask whether aneuploid embryos can be identified in another way, for instance, by studying their quality, and the answer to this is a resounding no, because even if an embryo is morphologically optimal, it can still harbour chromosomal abnormalities.
People who have not opted to undergo preimplantation genetic testing in their assisted reproduction process or who need confirmation that everything is going as expected, can also resort to prenatal testing. NIPT (non-invasive prenatal screening) can detect aneuploidies in the foetus through blood testing of the mother from the ninth week of gestation onwards.
Later in pregnancy, invasive prenatal tests such as chorionic villus sampling (CVS) or amniocentesis can also be employed, which, although they may be more reliable, carry a small risk of gestational loss. PGT-A is the perfect tool to find out about the aneuploidy of embryos when planning a pregnancy and, therefore, at IVF-Life we recommend that all our patients incorporate this technique into the treatment they undergo with us.