Extent of chromosomal mosaicism influences the clinical outcome of in vitro fertilization treatments

High concordance between next generation sequencing and single-nucleotide polymorphism array in preimplantation genetic testing for aneuploid

“…NGS is also able to detect mosaicism sensitively [21,23]. Hence, using NGS for PGT-A may increase the chances of having a healthy and live newborn child, it also lessens the stress of abortion [24][25][26]. In our study, there is a high concordance in detecting the blastocyst ploidies between NGS and SNP array except the low level of mosaic embryos.…”

“…Studies suggested that the level of mosaicism identi ed in the original TE biopsy was a predictor of miscarriage [27]. However, there was also a study which reported that mosaic embryos with low aneuploidy percentage had less chances to cause a miscarriage and could lead to a healthy birth [24]. Therefore, transferring mosaic blastocysts is still controversial on clinical risk management and/or di cult counselling perspectives.…”

Estimating Demand for Germline Genome Editing: An In Vitro Fertilization Clinic Perspective

“…Interestingly, recent data have shown that blastocysts classified by PGT-A as chromosomally mosaic (harboring a mix of euploid and aneuploid cells) can result in implantation and healthy pregnancies, although with significantly lower success rates than blastocysts classified as euploid. [53][54][55] To date, *300 babies born from transferred mosaic embryos have not presented medical complications of any kind. [53][54][55] Evidence from mouse and human embryology indicates that in a mosaic embryo euploid cells dilute out aneuploid cells as the latter preferentially die off or divide at slower rates during development.…”

“…[53][54][55] To date, *300 babies born from transferred mosaic embryos have not presented medical complications of any kind. [53][54][55] Evidence from mouse and human embryology indicates that in a mosaic embryo euploid cells dilute out aneuploid cells as the latter preferentially die off or divide at slower rates during development. 55,56 Deleting an extra chromosome when trisomy is present would typically imply the creation of uniparental disomy, since the GGE machinery would need to target the chromosome that is dissimilar and contains differentiating DNA sequences.…”

Genetic Counseling and Assisted Reproductive Technologies

“…The decision of whether or not to transfer mosaic embryos can be challenging. Several studies have demonstrated healthy live births following the transfer of mosaic embryos (Greco et al 2015;Fragouli et al 2017;Munné et al 2017;Spinella et al 2018). Some centers are comfortable transferring these embryos as long as patients have had genetic counseling to discuss the results.…”