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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
The goal of embryo diagnostics and prognostics testing
Dominique de Ziegler1, Anuja Dokras2, Chelsea Fox3
1Reproductive and Infertility Division, Hospital of Cambodia (Fertility Clinic of Cambodia), Phnom Penh, Kingdom of Cambodia.
Abstract:
Embryo diagnostic and prognostic tests are now in widespread clinical use. Diagnostic tests evaluate the embryo to determine if a specific abnormality is present, which might result in an abnormal phenotype in the child. Trophectoderm biopsy-based prognostic tests seek to identify those embryos with little or no reproductive potential and remove them from the pool of transferable embryos. Noninvasive prognostic tests attempt to identify and rank the chance of live birth of each embryo. Directly or indirectly, these tests ultimately seek to improve safety and clinical outcomes. All preimplantation tests of human embryos should undergo specific validation studies to demonstrate the safety and efficacy of each analytical platform and treatment paradigm before clinical utilization. Currently, no embryo diagnostic method has been proven to increase the cumulative live birth rate for a given cohort of embryos. Diagnostic tests such as preimplantation genetic testing for monogenic disorders and preimplantation genetic testing for structural rearrangements seek to eliminate affected gestations. Prognostic tests do not alter the reproductive potential of the cohort of embryos and thus will not impact the cumulative delivery rate if all embryos were transferred. They seek to reduce the burden of care by achieving higher initial delivery rates per transfer.
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