Genome sequencing for fetuses. (Cover story)

• Autores: Daisy Yuhas
• Localización: Scientific American, ISSN 0036-8733, Vol. 307, Nº. 6, 2012, págs. 40-41
• Idioma: inglés
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• Resumen

  • This article discusses the advancements that have been made in fetal genome sequencing for the purposes of detecting single gene mutations and potential birth defects. Topics include chemical pathologist Dennis Lo's discovery in 1997 of fetal DNA in a pregnant mother's blood plasma, the use of haplotypes in the blood plasma to separate the mother's and the fetus' DNA, and bioengineer Stephen Quake's successful reconstruction of the fetal genome solely using a maternal blood sample.