Journal: International Journal of Molecular Sciences
Article Title: Whole Genome Amplification in Preimplantation Genetic Testing in the Era of Massively Parallel Sequencing
doi: 10.3390/ijms23094819
Figure Lengend Snippet: Clinical cycle of comprehensive preimplantation genetic testing. The process starts with family genetic testing in order to establish normal and disease-associated family haplotypes. Next, oocyte stimulation, retrieval, and fertilization are performed. Embryos surviving until day 5 undergo laser-assisted hatching and biopsy. Biopsy material consisting of a few trophectoderm cells is amplified using one of the WGA techniques. WGA material is further used to assess the embryonic genome, including haplotype, causative variant, aneuploidy, and CNV analyses. The disease-free embryo is subjected to embryo transfer to the uterine cavity. The whole cycle can be repeated within 24 h, with a day-6 embryo being transferred. If the genetic testing takes longer, then embryos are vitrified and thawed before being transferred. PGT—preimplantation genetic testing, WGA—whole-genome amplification, IVF—in vitro fertilization, MPS—massively parallel sequencing, CNV—copy number variation.
Article Snippet: PGT performed on trophectoderm biopsies using PicoPLEX in combination with BlueGnome’s BAC arrays (later Illumina, now discontinued) and subsequently MPS began a major revolution in the availability of human PGT and forever changed the face of clinical in vitro fertilization [ , , ].
Techniques: Amplification, Variant Assay, Whole Genome Amplification, In Vitro, Sequencing