Pre-implantation Genetics Diagnosis (PGD) for Carriers of Chromosome Rearrangements
1. Reciprocal translocations
2. Robertsonian translocations
3. Inversions and insertions
4. Deletions and duplications
5. Complex chromosome rearrangements (CCRs)
6. Sexing for an X-linked condition
The material used for testing is material obtained from the trophoblast from blastocyst stage embryos (trophectoderm biopsy). The biopsy is taken on day 5, 6 or 7 post-fertilisation.
IVF protocols are used to obtain and fertilise a number of eggs. The fertilised embryos develop for five to seven days and then the trophectoderm layer of each embryo is biopsied to collect approximately ~5-10 cells. The genetic material (DNA) from the cells is tested for the known chromosome rearrangement in the family. Unaffected embryos are then transferred into the uterus, with the aim of establishing a pregnancy unaffected by imbalance for the chromosomes tested or the specified X-linked condition.
The genetics laboratory works closely with the Centre for Pre-implantation Genetic Diagnosis at Guy's and St Thomas' Trust which is the largest and most successful centre in the UK for PGD for chromosome rearrangements and monogenic disorders, with over 700 babies born as a result of this treatment.
Borough Wing - 7th Floor
Great Maze Pond
London SE1 9RT
For Monogenic Disorders contact Dr Pamela Renwick
T: 020 7188 1667
F: 020 7188 7273
For Chromosome Rearrangements contact Dr Angela Davies or Ms Susan Bint
T: 020 7188 1701
F: 020 71881697
E: firstname.lastname@example.org; email@example.com
Last updated: 20/10/2017