Diagnóstico genético pre-implantacional no invasivo como método de detección de aneuploidías embrionarias: una revisión sistemática

Introduction

The primary aim of this systematic review is to evaluate the available current scientific evidence on non-invasive PGT-A (niPGT-A) in regards to cell free DNA (cf-DNA) detection in spent culture media (SCM), cf-DNA amplification, and concordance rates against conventional PGT-A.

Search Methods

We performed an exhaustive systematic search through major databases for original experimental research, from a period of conception to March 2020, using a combination of the following search words: blastocele/blastoceol fluid, blastoscentesis, cell-free DNA embryo, embryo aneuploidy preimplantation, embryo biopsy preimplantation, noninvasive pgt, preimplantation diagnosis, spent embryo culture media, and trophoectoderm (TE) biopsy.

Results

Our search yielded 26 studies for a qualitative and 15 for quantitative analysis. Our main results report that cf-DNA is detectable in SCM in 100% of ART (IVF/ICSI) treatments at a rate of 44.4-100% per sample. The average concentration of cf-DNA is 37.42 ng/μL. General concordance rates between cf-DNA and TE biopsy range from 54.9 to 100% (average 78.32% ± 14.55). We found important discrepancies between niPGT-A methodologies carried out by different ART centers, such as culture volume, SCM storage temperature, women embryo donors' age, embryo quality, use of negative/sham controls, time of SCM collection, and genetic analysis platforms/systems.

Conclusions

There are many ways in which niPGT-A may be optimized, according to current scientific evidence. However, there are many important questions that remain unanswered in order to standardize niPGT-A as routine practice in ART.