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Baby's genome deciphered prenatally from parents' lab tests
Date:6/8/2012

to a minute, one-letter change in the DNA code.

"The improved resolution is like going from being able to see that two books are stuck together to being able to notice one word misspelled on a page," said Kitzman.

With technical advances as well as statistical modeling, the research group overcame several obstacles that had stymied previous efforts to determine fetal genomes. With a preponderance of maternal rather than fetal DNA in plasma samples, a major problem was figuring out which genetic variants had passed from mother to child. The scientists applied a recently developed technique to resolve the mother's haplotypes, which are groups of genetic variations residing on the same chromosome. From these groupings, the researchers could pick out the parts of the baby's genetic material inherited from each parent with over 98 percent accuracy.

"It was rewarding to apply biostatistics to help solve this problem," said Snyder, who came to genome sciences from the fields of statistics and economics.

Still, he added, there is more work to be done to improve this technique. The researchers pointed to the need for a more robust, scalable, overarching protocol, as well as ways to lower costs and automate and standardize parts of the process.

A child can have genetic variations not shared with either parent. These brand new or de novo mutations can occur during egg or sperm formation or at or near conception. Because de novo mutations underpin a substantial proportion of dominant genetic disorders, searching for them is critical to comprehensive prenatal genetic diagnosis. The researchers showed that ultra-deep sequencing, computational biology and statistics could locate de novo mutations genome-wide in the growing fetus. They discovered 39 of the baby's 44 de novo mutations while it was a fetus.

The results suggest that a more refined, less costly version of their approach might make prenatal genetic screening vast
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Contact: Leila Gray
leilag@u.washington.edu
206-685-0381
University of Washington
Source:Eurekalert  

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