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Using this method, we successfully identified all nine cases of trisomy 21 (Down syndrome), two cases of trisomy 18 (Edward syndrome), and one case of trisomy 13 (Patau syndrome) in a cohort of 18 normal and aneuploid pregnancies; trisomy was detected at gestational ages as early as the 14th week. Direct sequencing also allowed us to study the characteristics of cell-free plasma DNA, and we found evidence that this DNA is enriched for sequences from nucleosomes.<\/jats:p>","DOI":"10.1073\/pnas.0808319105","type":"journal-article","created":{"date-parts":[[2008,10,6]],"date-time":"2008-10-06T20:54:22Z","timestamp":1223326462000},"page":"16266-16271","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":962,"title":["Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood"],"prefix":"10.1073","volume":"105","author":[{"given":"H. 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