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Reproductive Medicine

Developing Efficient Techniques for PGD

The Assisted Conception Unit has the largest and most successful preimplantation genetic diagnosis (PGD) unit in the UK and is internationally known for its development of preimplantation genetic haplotyping (PGH).

  • In PGH, whole genome amplification (WGA) and multiple displacement amplification (MDA) are used to simplify the process of PGD and increase the accuracy in diagnosis of mongenic and sex linked genetic disorders.
  • Key participation in the European PGD Consortium, and lead responsible for long term follow up of babies born following PGD (Lashwood).

This has led to key peer review publications.

Future Research Strategy

Infertility is a common problem and there is consistent/increasing patient demand. A plethora of yet unanswered important research questions remain in Assisted Reproduction Technology. There are an increasing number of commonly used non evidence-based practices/interventions that require investigation in a research setting.

Recent Publications

El-Toukhy T, Bickerstaff H, Meller S (2010) Preimplantation genetic diagnosis for haematologic conditions. Curr Opin Pediatr.;22(1):28-34 [PubMed]

Fassihi H, Liu L, Renwick PJ, Braude PR, McGrath JA  (2010) Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa. Br J Dermatol. 162(6):1330-6. [PubMed]

Harton G, Braude P, Lashwood A, Schmutzler A, Traeger-Synodinos J, Wilton L, Harper JC (2010) ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD/preimplantation genetic screening. Hum Reprod 26(1):14-24. [PubMed]

Mackie Ogilvie C, Watson S, Braude P, Pickering S, Scriven PN (2010) Preimplantation genetic diagnosis for a carrier of a Y;autosome translocation resulting in a healthy male offspring. Fertil Steril 94(4):1529.e11-4. [PubMed]

Renwick P, Trussler J, Lashwood A, Braude P, Ogilvie CM (2010) Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells. Reprod Biomed Online. 20(4):470-6. [PubMed]
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