The impact of next generation sequencing technology on preimplantation genetic diagnosis and screening

Emergence of new IVF techniques and massively parallel DNA sequencing provide deep comprehensive genome-wide sequence readout as an end point to screen for and diagnose chromosomal abnormalities and single-gene disorders.

Julio Martín, Ph.D., Ana Cervero, Ph.D., Pere Mir, Ph.D., Jose Antonio Conejero Martinez, Ph.D., Antonio Pellicer, M.D., Carlos Simón, M.D.

Volume 99, Issue 4, Pages 1054-1061.e3, 15 March 2013


Largely due to efforts required to complete the Human Genome Project, DNA sequencing has undergone a steady transformation with still ongoing developments of high throughput sequencing machines wherein the cost per reaction is falling drastically.
Comparably, the fast changing landscape of reproductive technologies has been improved by genetic approaches. Preimplantation genetic diagnosis (PGD) and screening (PGS) was established more than two decades ago for selecting genetically normal embryos to avoid inherited diseases and to give the highest potential to achieve stable pregnancies. Most recent additions to the IVF practices (blastocyst/ trophectoderm biopsy, embryo vitrification) and adoption of new genetics tools like array CGH have allowed setting more precise and efficient programs for clinical embryo diagnosis.
Nevertheless there is always room for improvements. Remarkably, a recent explosion in the release of advanced sequencing benchtop platforms together with certain maturity of bioinformatics tools set the target goal of sequencing individual cells for embryo diagnosis a realistically feasible scenario for the near future. Next generation sequencing (NGS) technology should provide the opportunity to simultaneously analyze single-gene disorders and perform an extensive comprehensive chromosome screening/diagnosis by concurrently sequencing, counting, and accurately assembling millions of DNA reads.

Translate »