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Abstract
Embryos found to be abnormal during preimplantation genetic diagnosis (PGD) are discarded or analysed to confirm the diagnosis. To overcome this limitation, which is unacceptable in some communities and ethnic groups, pre-embryonic genetic diagnosis has been introduced, involving sequential first and second polar body analysis followed by transfer of embryos deriving from the mutation-free oocytes, while removing from culture and freezing the mutant oocytes at the pronuclear stage. The technique is applied here to PGD of Sandhoff disease caused by 16-kb deletion of the hexosaminidase B gene for a couple with a religious objection to discarding embryos irrespective of embryo genotype. Of 16 oocytes tested in a standard IVF protocol for 16-kb deletion, simultaneously with five linked polymorphic markers, eight were predicted mutant and frozen prior to syngamy, with the remaining eight, found to be free of mutation, further cultured and confirmed unaffected using blastomere biopsy. The transfer of two of these embryos resulted in birth of an unaffected child, demonstrating feasibility of pre-embryonic diagnosis to avoid embryo discard.
Keywords
References
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Biography
Dr Anver Kuliev received his PhD in Clinical Cytogenetics from Moscow Research Institute of Human Morphology in 1969. In 1979 he took the responsibility for the World Health Organization (WHO)'s Hereditary Diseases Program in Geneva, where he developed community-based programmes for prevention of genetic disorders and early approaches for prenatal diagnosis. He moved to the Reproductive Genetics Institute in 1990, where he heads the WHO Collaborating Center for Prevention of Genetic Disorders, and scientific research in prenatal and preimplantation genetics. He is an author on 144 papers and 11 books in the above areas, including five books in the field of preimplantation genetics.
Article info
Publication history
Accepted:
November 25,
2005
Received:
October 14,
2005
Identification
Copyright
© 2006 Reproductive Healthcare Ltd, Duck End Farm, Dry Drayton, Cambridge CB23 8DB, UK. Published by Elsevier Inc. All rights reserved.
