Non-Invasive Preimplantation Genetic Testing: a Laboratory Review NIPGTA - a laboratory review

Abstract

Since the presence of cell free DNA (cfDNA) was reported in blastocoel fluid and spent culture medium the possibility to introduce a non-invasive preimplantation genetic testing (niPGT) as a new tool in assisted reproductive technology (ART) has been investigated by different groups.
A variety of different approaches have been used until now to collect, extract, amplify and analyse embryonic DNA from BF, SCM and eventually both together. However, success rates in term of amplification, ploidy concordance, specificity and sensitivity vary widely among different papers.
This review aims at summarizing those different methodologies.
niPTG offers many advantages compared to the traditional biopsy method especially regarding safety of embryos and future children, nevertheless despite the growing amount of data, optimized and high reproducibility protocols are as for now, missing and clinical replacement is still not possible, and it should still be only classified as a screening method for optimizing noninvasive embryo prioritization.