BACKGROUND:

Segmental aneuploidies have been suggested as a possible explanation for the subgroup of euploid embryos transferred to the uterus, which have failed to produce a healthy child.

OBJECTIVE:

know the frequency of segmental chromosome aneuploidies in trophectoderm biopsies during IVF cycle and its relationship with maternal age.

MATERIALS AND METHODS:

615 blastocysts from 148 cycles (2014-2016) were included, which were analyzed with preimplantation genetic screening (PGS), in its variant of single nucleotide polymorphism (SNP microarray), using the algorithm “Parental Support”, which allows the identification of numerical aneuploidies and segmental aneuploidies (Deletions/Duplications). The results were divided into four ranges, depending of maternal age "<35", "35 to 37", "38 to 40" and "≥41".

RESULTS:

50.3% of the blastocysts were aneuploid, of which 10.2% had segmental aneuploidies (6.8% only Deletions/Duplications and 3.4% Deletions/Duplications plus numerical aneuploidies). Deletions/Duplications decreased with increasing maternal age. The aforementioned results presented clearer trends when only aneuploid blastocysts were taken into account.

CONCLUSIONS:

The Deletions/Duplications is present in a large percentage of embryos in the blastocyst stage and show an inversely proportional relation to maternal age.