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  • Print publication year: 2008
  • Online publication date: August 2010

66 - Preimplantation Genetic Diagnosis for Single-Gene Disorders



There is a wide range of single-gene disorders that could be screened for using preimplantation genetic diagnosis (PGD). These mostly include Mendelian disorders like autosomal or X-linked disorders, whether recessive or dominant. The most common autosomal dominant diseases include myotonic dystrophy, Huntington disease, neurofibromatosis, and adenomatous polyposis coli. The aim of genetic counseling is to enable couples and families with genetic disadvantages to live and reproduce as normally as possible. Couples undergoing PGD should be advised to have protected intercourse or to abstain from sex to avoid the risk of spontaneous pregnancy during that cycle. Polar body biopsy is also known as preconception or pre-fertilization biopsy, and in some countries, it is the only form of PGD that is legally approved. Fluorescent in situ hybridization (FISH) is particularly useful when examining interphase nuclei, as with blastomeres.
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