This Week in PNAS

Researchers from China and the US report on efforts to sequence fetal DNA circulating in maternal blood samples using Ion Proton semiconductor sequencing. The team used the semiconductor sequencing approach to do retrospective karyotyping on samples from 515 pregnant women, identifying known cases of fetal trisomies 21, 18, and 13 with sensitivities and specificities of more than 99 percent.

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