Author/Authors :
Ben-Nagi, Jara Clinical Department - The Centre for Reproductive and Genetic Health, London, UK , Odia, Rabi Embryology Department - The Centre for Reproductive and Genetic Health, London, UK , Gonzalez, Xavier Vinals Embryology Department - The Centre for Reproductive and Genetic Health, London, UK , Heath, Carleen Embryology Department - The Centre for Reproductive and Genetic Health, London, UK , Babariya, Dhruti Cooper Genomics, London, UK , SenGupta, Sioban Institute of Women’s Health - University College London, London, UK , Serhal, Paul Clinical Department - The Centre for Reproductive and Genetic Health, London, UK , Wells, Dagan Department of Women’s and Reproductive Health - University of Oxford, Oxford, UK
Abstract :
Background: The exact origin of cell-free DNA found in spent culture media or
blastocoel fluid is currently unknown but with the potential to become an improved
source of DNA for chromosomal analysis than trophectoderm biopsy samples, it
provides a superior representation of the fetal genetic status. However, the genetic
material contained within the blastocoel cavity may be more reliable to assessment
of embryo euploidy in a clinical context than trophectoderm of cell-free DNA.
Case Presentation: This is the first UK case report where all three sources of DNA
were analyzed in a clinical setting on 29 th January 2018 at the Centre for Reproductive
and Genetic Health, London, leading to an ongoing clinical pregnancy.
Conclusion: The experience from this case report suggests that removal of blastocoel
fluid, sampling of spent culture media and trophectoderm biopsy can be carried
out in parallel. Gathering genetic information from two to three independent samples
of embryo DNA may provide enhanced diagnostic accuracy and may clarify cytogenetic
status of mosaic embryos.
