PURPOSE OF REVIEW: Description of genetic screening of preimplantation embryos as a means of reducing miscarriages in patients with recurrent pregnancy loss. RECENT FINDINGS: That the promise of preimplantation genetic screening (PGS) for ameliorating recurrent pregnancy loss has been fulfilled is controversial. An array of comparative studies has suggested a positive effect of PGS on implantation rate, but these have been balanced by studies showing no effect or a negative effect, highlighting the need for more rigorously designed studies and randomized controlled trials. Emerging technologies may provide more information from the embryo biopsies even as the mosaicism of the embryo and its implications for interpreting PGS data are recognized. SUMMARY: Through the screening of embryos for abnormality in chromosome number or structure and selecting only normal embryos for transfer, PGS was envisioned and applied as a therapeutic tool for improving implantation and live birth rates from in-vitro fertilization and providing a means of attenuating pregnancy loss in recurrent pregnancy loss patients. An array of reports on the effects of PGS on embryo implantation and live birth rates has been made since its introduction, showing, variously, increases, decreases or no changes in these parameters. Various factors may influence the efficacy of PGS, including the patient population to which it is applied, technical aspects such as embryo biopsy, the genetic analysis and embryo culture environment, the current limitation of the genetic analysis (a subset of, rather than all, the 24 chromosomes) and the mosaicism of the embryo and blastocyst. Collectively, these contribute to the challenge of optimizing PGS and understanding how the screening result reflects the ultimate genetic constitution of the conceptus. Emerging cytogenetic and molecular technologies such as comparative genomic hybridization and microarray analysis may provide a broader appraisal of the embryo for a more comprehensive evaluation of developmental potential and prognosis for live birth.
PURPOSE OF REVIEW: Description of genetic screening of preimplantation embryos as a means of reducing miscarriages in patients with recurrent pregnancy loss. RECENT FINDINGS: That the promise of preimplantation genetic screening (PGS) for ameliorating recurrent pregnancy loss has been fulfilled is controversial. An array of comparative studies has suggested a positive effect of PGS on implantation rate, but these have been balanced by studies showing no effect or a negative effect, highlighting the need for more rigorously designed studies and randomized controlled trials. Emerging technologies may provide more information from the embryo biopsies even as the mosaicism of the embryo and its implications for interpreting PGS data are recognized. SUMMARY: Through the screening of embryos for abnormality in chromosome number or structure and selecting only normal embryos for transfer, PGS was envisioned and applied as a therapeutic tool for improving implantation and live birth rates from in-vitro fertilization and providing a means of attenuating pregnancy loss in recurrent pregnancy loss patients. An array of reports on the effects of PGS on embryo implantation and live birth rates has been made since its introduction, showing, variously, increases, decreases or no changes in these parameters. Various factors may influence the efficacy of PGS, including the patient population to which it is applied, technical aspects such as embryo biopsy, the genetic analysis and embryo culture environment, the current limitation of the genetic analysis (a subset of, rather than all, the 24 chromosomes) and the mosaicism of the embryo and blastocyst. Collectively, these contribute to the challenge of optimizing PGS and understanding how the screening result reflects the ultimate genetic constitution of the conceptus. Emerging cytogenetic and molecular technologies such as comparative genomic hybridization and microarray analysis may provide a broader appraisal of the embryo for a more comprehensive evaluation of developmental potential and prognosis for live birth.