Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal

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Science Translational Medicine  02 Nov 2016:
Vol. 8, Issue 363, pp. 363re4
DOI: 10.1126/scitranslmed.aah4661

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Noninvasive peek at fetal DNA

Single-gene mutations are responsible for a large number of diseases and contribute to a sizeable fraction of pediatric hospitalizations and deaths. Current methods for prenatal diagnosis of such mutations are limited because they are invasive (except for detection of circulating fetal DNA, which is safe but can be difficult to perform accurately) and most cannot be performed early in pregnancy. Jain et al. now demonstrate a way to isolate and analyze trophoblast cells, which carry fetal DNA, by noninvasively obtained Papanicolaou smears. The authors show that analysis of the DNA in these cells presents an accurate reflection of the fetal genotype as early as 5 weeks of gestation, without the risk posed by invasive procedures.