What is the Best Technique to Use for Preimplantation Screening?
Technology now exists where embryos can be biopsied and screened for genetic abnormalities prior to transfer, called preimplantation genetic screening (PGS)
A new technology, called next generation sequencing (NGS), has very high resolution (can detect small changes in DNA) and can identify a relatively high percentage of mosaicism (the presence of more than one cell line in an embryo)
A hypothesis exists that the ability of NGS to identify and therefore exclude more mosaic embryos may lead to higher implantation and ongoing pregnancy rates
Friedenthal et al. (Fertility and Sterility 2018) sought to determine how NGS performs compared to array comparative genomic hybridization (aCGH), a microarray approach to PGS, where resolution is lower
Retrospective cohort study
Participants: Women undergoing fertility treatment and PGS on single thawed euploid embryos prior to transfer after undergoing IVF
PGS was performed using either
Ongoing pregnancy/live birth rate (OP/LBR)
Biochemical pregnancy rate (PR)
Spontaneous abortion (SAB) rate
The NGS group had a significantly higher implantation rate compared with the aCGH group (71.6% vs. 64.6%)
Even after adjusting for confounding variables, the OP/LBR was also significantly higher in the NGS group (62% vs. 54.4%)
There were significantly more biochemical pregnancies in the aCGH group compared with the NGS group (15.1% vs. 8.7%)
Most of the losses in the aCGH group occurred early (before formation of a gestational sac)
The SAB rate was not significantly different in the NGS group compared with the aCGH group (12.4% vs. 12.7%)
PGS using NGS lead to higher implantation rate and OP/LBR
Superior results with NGS may be related to
Better detection of small abnormalities that would be missed by microarrays
Better exclusion of mosaic embryos
However, recent studies indicate that some mosaic embryos may go on to implantation and live birth
Authors acknowledge that the major limitation of this study is that it is retrospective and well-designed RCTs would be required to compare outcomes between different technologies that are used in fertility centers
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