Preimplantation Genetic Diagnosis (PGD) for chromosome rearrangements
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چکیده
• Chromosome rearrangements include Robertsonian and reciprocal translocations (the most common form of chromosome abnormality in humans, present in approximately 1 in 500 individuals), periand paracentric inversions, interand intra-chromosomal insertions, deletions, duplications, and complex chromosome rearrangements (CCRs). • In all cases presenting for PGD, the risk of viable abnormality should have been assessed and the couple counselled appropriately, as for many couples carrying chromosome rearrangements, the best chance of a successful pregnancy outcome may be by natural conception. • A PGD test using commercially available FISH probes can generally be designed for all Robertsonian translocations, most reciprocal translocations and inversions, and some CCRs. Specific “home-grown” probes may be required for some insertions. • By far the largest group presenting for PGD are couples where one partner carriers a reciprocal translocation, which in nearly all cases is unique to that family. • Most groups use combinations of probes for the different chromosome segments involved in the rearrangement in order to assess dosage of these regions in interphase nuclei or polar body preparations.
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تاریخ انتشار 2010