IVF: The next generation - Preimplantation genetic haplotyping is already available at Bridge
Preimplantation genetic haplotyping (PGH) is a modification of preimplantation testing for diseases caused by single gene defects. It is based on our published work of two years ago, in which the whole genome (DNA) of a single cell removed from an embryo is amplified before diagnosis. Diagnosis is then performed by 'tracking' the faulty gene through the family using linked 'markers' located either within the gene itself or close by.
Despite the publicity, however, this method is not straightforwardly applicable to many conditions as several markers are required to overcome the inefficiency of whole genome amplification from a single cell and this may not be possible in certain situations.
The good news is that an enhanced version of this method is already available at Bridge for couples at risk of any inherited condition for which the gene defect has been identified.
Our approach has several advantages:
- The gene defect itself is analysed in combination with at least two linked markers for improved accuracy
- It is more widely applicable to any condition
- It avoids whole genome amplification which lowers diagnostic efficiency
- It can be combined with aneuploidy (abnormal chromosome number) screening in advanced maternal age
For enquiries please contact Mark Robinson or Prof Alan Handyside
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