Circulating Fetal Cells Sequenced for Prenatal Testing Study

Trophoblasts, collected from the mother during a blood draw, can determine fetal genetic abnormalities currently diagnosed through amniocentesis or chorionic villi sampling.

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Trophoblasts, cells present during development in the fetus and placenta that also circulate in a pregnant woman’s bloodstream, could potentially be used for noninvasive prenatal diagnosis, according to a paper published November 27 in The American Journal of Human Genetics.

A team led by geneticist Arthur Beaudet of Baylor College of Medicine obtained blood samples from pregnant women and separated out trophoblasts for analysis. Using whole-genome sequencing, they detected fetal genetic abnormalities such as trisomies, the presence of an extra chromosome, with high accuracy. This technique could have the potential to replace more invasive tests such as amniocentesis or chorionic villi sampling, and it appears to be more accurate than a similar procedure that tests cell-free DNA in the mother’s bloodstream.

The new paper “provides the most comprehensive demonstration to date of the potential of approaches based on circulating trophoblasts,” Benjamin Thierry, a biomedical engineer at ...

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