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- Title
PGD for monogenic diseases: Molecular aspects.
- Authors
De Rycke, M.
- Abstract
The first clinical use of PGD was in the early 1990's. Since then, the list of monogenic diseases that can be diagnosed at the single-cell level has extended rapidly and includes indications which are usually not considered for prenatal testing such as late-onset diseases, cancer predisposition syndromes and HLA testing. With time, molecular strategies have become more sophisticated and the introduction of new methods has improved the efficiency and accuracy. The most widely used method for molecular diagnosis is still PCR and fluorescent multiplex PCR followed by post-PCR reactions for allele discrimination has become the golden standard as it provides information on ADO and contamination in addition to mutation detection. PCR based protocols with STR markers have very recently been applied in PGD cycles for structural chromosome abnormalities, in which FISH has been traditionally the preferred method. PCR strategies involve either direct mutation detection or indirect diagnosis via linkage analysis with STR markers; the choice merely depends on the mutation. In recent years, the use of whole genome amplification, especially via the multiple amplification technique, has been demonstrated to be an efficient alternative to single-cell PCR. It is crucial that both PCR-based and non-PCR based amplification methods undergo thorough testing and validation before clinical application. Test validation presents one of the technical requirements in accreditation, an upcoming issue for PGD centres which will implement laboratory quality assurance. In this talk, we will overview molecular strategies and highlight some of the complexities that may arise with PGD.
- Subjects
DISEASES; POLYMERASE chain reaction; DISEASE susceptibility; MOLECULAR dynamics; CHROMOSOME abnormalities; GENETIC mutation; MOLECULAR oncology
- Publication
Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2010, Vol 20, pS1
- ISSN
1472-6483
- Publication type
Article
- DOI
10.1016/S1472-6483(10)62256-0