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).