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Published online 6 October 2008 | Nature | doi:10.1038/news.2008.1152
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Blood test for Down's syndrome unveiled
Genetic technology used to comb mother's blood for fetal DNA.
A blood test that uses next-generation sequencing technology could one day replace more invasive methods as a prenatal test for Down's syndrome and other chromosomal disorders, researchers say.
The test has only been tried in a small number of patients, and is years away from daily use in the clinic.
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Very Informative
Similar methodologies are also in development at a number of other companies/institutes. For example Advalytix (an Olympus subsidiary) and the University of Graz are close to launching a test. >>Snippet from the May 2007 press release - "Using the non-invasive AmpliGrid method, hereditary diseases and trisomies, such as Down?s Syndrome, can be diagnosed consistently and without risk to mother or baby, even at an early stage of pregnancy." >>Full press release - http://www.advalytix.com/news_268_337.htm
These results are always partly disconcerting. Sometimes the development of "new" and "easier" methods leads people to consider less thoughtfully their options in raising a trisomic child.
This is very good as far as diagnostice is concerned. but we must do something for therapeutics, may be sieving. but then quantitative sieving may be difficult. let me know if something is known in this area. amitha
I underlined also on www.nature.com (Stagnaro Sergio. Biological System Functional Modification parallels Gene Mutation. www.Nature.com, March 13, 2008,http://blogs.nature.com/nm/spoonful/2008/03/gout_gene.html) that every gene mutation brings about necessarily alteration, i.e., dysfunction, in related biological system. Doctors can nowadays bedside evaluate all tissue functions, so that we can gather since birth precise information not only with the aid of genomics, but also with a simple stethoscope. According to Angiobiopathy theory, in children involved by Down's syndrome, doctors recognize brain micorcirculatory remodelling, characterized by newborn-pathological, type I, subtype b) aspecific, Endoarteriolar Blocking Devices, that up-dated physicians know well (For instance, Stagnaro Sergio. Newborn-pathological Endoarteriolar Blocking Devices in Diabetic and Dislipidaemic Constitution and Diabetes Primary Prevention. The Lancet. March 06 2007. http://www.thelancet.com/journals/lancet/article/PIIS0140673607603316/comments?totalcomments=1)