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Mom's Blood Sample Yields Unborn Baby's Genetics

Finding Opens the Door for Noninvasive Prenatal Screening

Noninvasive Prenatal Screening: Perspective

''Noninvasive prenatal diagnosis would allow couples at risk of passing on an inherited condition to their child to avoid a 1% risk of miscarriage associated with invasive diagnostic tests such as amniocentesis," says Caroline Wright, PhD, head of science for the PHG Foundation (Foundation for Genomics and Population Health)  in Cambridge, England.

''This pioneering study is the first to produce a genome-wide profile for the fetus from a maternal blood sample, and describes a methodology that is potentially applicable to noninvasive diagnosis of almost any genetic condition, rather than being limited to specific traits (such as the sex of the fetus) like most previous methods."

But she says much larger study is needed to prove the technique's accuracy. Many economic and ethical issues must also be addressed, she says.

Noninvasive Prenatal Testing: Researcher's Caveats

Lo tells WebMD the method is very expensive.  "It would probably cost some $200,000 if one were to do what we have done in the paper," he says.

But he expects the cost to come down rapidly in the future. "In a few years' time, sequencing would probably be so cheap that this would no longer be a problem."

Another way to contain costs, he says, is to use ''targeted sequencing," looking at a selected number of genomic regions with disease-causing genes.  "If one goes down this pathway, then I would predict that the cost can be reduced by 100 times or so," he says.

The study was funded in part by a research agreement with Sequenom, a San Diego company involved in developing diagnostics for prenatal disorders. Lo reports filing patent applications or holding patents on the analysis of fetal nucleic acids in maternal plasma. He serves as a consultant to Sequenom, is on its clinical advisory board, and holds equities.

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