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- Title
Preimplantation genetic diagnosis (PGD) for monogenic disorders. When blastomere analysis may be impossible.
- Authors
Renbaum, P.; Eldar-Geva, T.; Beeri, R.; Varshower, I.; Brooks, B.; Haran, E. Zylber; Margalioth, E. J.; Levy-Lahad, E.; Altarescu, G.
- Abstract
Aim: Although PGD for monogenic disorders can be performed by, by blastocyst biopsy or by sequential analysis of polar body 1 and 2 (PB1 and PB2) for maternal dominant, X linked and recessive disorders, blastomere biopsy is by far the most common technique. We present a couple with maternally inherited Marfan syndrome in which we were only able to perform by polar body analysis. Material and Methods: Fifteen polymorphic microsatellite markers flanking the FBN1 gene were used to identify informative assays. The familial mutation and informative markers were amplified in a single cell multiplex assay for PGD. Results: Out of 15 polymorphic markers flanking the FBN1 gene, seven were found to be informative for polar body PGD. Only one of these markers could be used for blastomere analysis precluding the possibility of using this procedure. Four PGD polar body cycles were performed and transfer was possible in all cycles. In the last cycle, out of 12 fertilized embryos, four were wild type and 2 were transferred, the remaining 2 embryos were frozen for subsequent transferal. Common haplotypes are often observed in couples Conclusions: originating from the same ethnicity, making PGD analysis difficult. While it is possible to find markers distant to the mutation, these are not trustworthy due to possible recombination events. In couples where few or no informative markers can be found for blastomere PGD, polar body analysis is the method of choice for an accurate analysis.
- Subjects
PREIMPLANTATION genetic diagnosis; BLASTOCYST; GENETIC mutation; MARFAN syndrome; HUMAN embryo transfer; BLASTOMERES; GENETICS
- Publication
Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2010, Vol 20, pS17
- ISSN
1472-6483
- Publication type
Article
- DOI
10.1016/S1472-6483(10)62305-X