Instituto Bernabeu Integrates SNP Analysis in Its PGT-A Tests to Offer the Most Advanced Genetics on the Market

Preimplantation Genetic Testing for Aneuploidies (PGT-A) has undergone significant evolution over recent decades, driven by continuous advances in molecular genetics and reproductive biology. From its earliest applications using fluorescence in situ hybridization (FISH) to current next-generation sequencing (NGS), diagnostic precision has progressively increased, helping improve reproductive outcomes for patients.

In this context, a new and important advancement in PGT-A has emerged: the incorporation of the analysis of genetic variants or single nucleotide polymorphisms (SNPs), which act as molecular markers, as a complement to the study of chromosomal copy number.

This innovation represents a qualitative leap in diagnostic precision, as it makes it possible to identify global chromosomal alterations affecting all chromosomes, such as haploidies and triploidies, which previously could not be reliably detected. In addition, SNP analysis helps detect potential contamination by external DNA that could mask the PGT-A result.

Another notable benefit of this technology is the ability to analyze embryos that come from fertilizations initially considered abnormal, such as those with one or three pronuclei. Thanks to SNP analysis, a percentage of these embryos can be shown to be genetically viable and therefore suitable for transfer.

This advancement is especially relevant for patients with a low number of oocytes, such as patients with a poor ovarian response, for whom optimizing every assisted reproduction cycle is crucial.

In short, integrating SNP analysis as a complement to PGT-A adds an extra level of safety and precision to embryonic evaluation. In this way, PGT-A ceases to be only a test for aneuploidies and becomes a more complete genomic analysis, based on molecular markers and aligned with advances in reproductive biology, with a vision of more precise, personalized, and responsible reproductive medicine.

For all these reasons, at Instituto Bernabeu we have decided to take a further step in our commitment to excellence: all our PGT-A studies incorporate SNP analysis at no additional cost to the patient. Because we believe that providing more genetic information means offering better clinical decisions and, ultimately, better reproductive opportunities.

Dr. Belén Lledó, Director of IB Biotech.