Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker

Article Abstract:

Using a DNA probe designed to identify particular gene defects may improve the diagnosis of myotonic dystrophy. Myotonic dystrophy is an inherited form of muscular dystrophy that is characterized by muscle wasting, cataracts and intellectual impairment and usually affects young adults. Diagnosis is complicated by the wide range and varying severity of symptoms. Previous studies found a variable DNA fragment associated with myotonic dystrophy in affected patients. In 108 (96%) of 112 unrelated patients diagnosed with myotonic dystrophy, a DNA probe (p5B1.4) directly identified the myotonic dystrophy mutation. In the other four patients, it was not clear whether they were incorrectly diagnosed or whether another mutation was responsible for their condition. Use of the probe also revealed family members of affected patients who may be at risk for developing myotonic dystrophy.

DNA probes, Familial diseases, Myotonic dystrophy

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Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization

Article Abstract:

Researchers report the use of comparative genomic hybridization to analyze all of the chromosomes in a single human embryo before it was implanted during in vitro fertilization. In this case, the technique found no abnormal chromosomes and a healthy baby was born to a woman who had failed to get pregnant during several previous in vitro fertilization attempts.

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Preimplantation genetic diagnosis by comparative genomic hybridization

Article Abstract:

Comparative genomic hybridization can be used to analyze a cell taken from a fertilized egg for the presence of chromosomal abnormalities. Only eggs that have normal chromosomes would be implanted during in vitro fertilization. This would eliminate the risk of multiple pregnancy and increase the rate of implantation.

Editorial, Prenatal diagnosis

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