Conclusion.
The implementation of prenatal ES into clinical practice to evaluate the fetus with structural anomalies provides an opportunity to improve delineation of prognosis, provide clinical utility and to understand further the pathogenesis of prenatal genetic disorders. It is also possible that going forward, the identification of prenatal pathologic variants associated with structural anomalies (i.e. severe skeletal dysplasia associated with osteogenesis imperfecta) may provide opportunities for antenatal therapy (such as mesenchymal stem cell transplantation); as in the pan-EU Brittle Bone Before Birth (BOOSTB4) study59. However, as well as a robust, relatively conservative infrastructure for clinical delivery of this service, there is a need to continue to debate the societal, moral and ethical issues surrounding the implementation of such science so as to provide additional prognostic information to parents whilst attempting to limit an unnecessary emotional burden to parents and the criticism of societal eugenics48,49,60.
Acknowledgements : MDK is an investigator and grant holder as part of the PAGE study. This represents research commissioned by the Health Innovation Challenge Fund (HICF-R7-396), a parallel funding partnership between the Department of Health and the Wellcome Trust. The views expressed in this publication are those of the author and not necessarily those of the Department of Health or Wellcome Trust. MDK is also a member of the RCOG Genomics Group and the RCOG representative of the Joint Committee on Genomics in Medicine (joint committee of the Royal College of Pathologists, the Royal College of Physicians and the British Society for Genetic Medicine).