Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation


The majority of human embryos created using in vitro fertilisation (IVF) techniques are aneuploid. Comprehensive chromosome screening methods, applicable to single cells biopsied from preimplantation embryos, allow reliable identification and transfer of euploid embryos. Recently, randomised trials using such methods have indicated that aneuploidy screening improves IVF success rates. However, the high cost of testing has restricted the availability of this potentially beneficial strategy. This study aimed to harness nextgeneration sequencing (NGS) technology, with the intention of lowering the costs of preimplantation aneuploidy screening.

Embryo biopsy, whole genome amplification and semiconductor sequencing.

A rapid (‹15 h) NGS protocol was developed, with consumable cost only two-thirds that of the most widely used method for embryo aneuploidy detection. Validation involved blinded analysis of 54 cells from cell lines or biopsies from human embryos. Sensitivity and specificity were 100%. The method was applied clinically, assisting in the selection of euploid embryos in two IVF cycles, producing healthy children in both cases.

Degan Wells,1 Kulvinder Kaur,2 Jaimie Grifo,3 Michael Glassner,4 Jenny C Taylor,2 Elpida Fragouli,5 Santiago Munne6

  • 1. Nuffield Department of Obstetrics and Gynaecology,John Radcliffe Hospital, University of Oxford, Oxford, UK
  • 2. NIHR Oxford Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, Oxford, UK
  • 3. New York University Fertility Center, New York, New York, USA
  • 4. Main Line Fertility, Bryn Mawr, Pennsylvania, USA
  • 5. Reprogenetics UK, Institute of Reproductive Science, Oxford, UK
  • 6. Reprogenetics LLC, Livingston, New Jersey, USA


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