Journal
PRENATAL DIAGNOSIS
Volume 29, Issue 1, Pages 50-56Publisher
WILEY
DOI: 10.1002/pd.2161
Keywords
preimplantation genetic diagnosis; single-cell PCR; single-cell genetics; whole genome amplification
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Preimplantation genetic diagnosis (PGD) for monogenic diseases has known a considerable evolution since its first application in the early 1990s. Especially the technical aspects of the genetic diagnosis itself, the single-cell genetic analysis, has constantly evolved to reach levels of accuracy and efficiency nearing those of genetic diagnosis on regular DNA samples. In this review, we will focus on the molecular biological techniques that are currently in use in the most advanced centers for PGD for monogenic disorders, including multiplex polymerase chain reaction (PCR) and post-PCR diagnostic methods, whole genome amplification (WGA) and multiple displacement amplification (MDA). As it becomes more and more clear that when it comes to ethically difficult indications, PGD goes further than prenatal diagnosis (PND), we will also briefly discuss ethical issues. Copyright (C) 2008 John Wiley & Sons, Ltd.
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