Tahlequah Daily Press

Get the scoop!

June 16, 2012

Researchers predict genome of child without invasive screening

What if you could read much of your child's medical future while it was still in the womb? Taking a major step toward that goal, one fraught with therapeutic potential and ethical questions, scientists have now accurately predicted almost the whole genome of an unborn child by sequencing DNA from the mother's blood and DNA from the father's saliva.

At the moment, prenatal diagnosis for a small number of genetic conditions is usually done from fetal cells that doctors capture from fluid in the womb (amniocentesis) or a snippet of placental tissue (chorionic villus sampling). But these methods, which require the insertion of a needle or tube into the womb or placenta, can cause miscarriages in about 1% of all cases. In 1997, chemical pathologist Dennis Lo, now at the Chinese University of Hong Kong, discovered that roughly 10% of the cell-free DNA floating in a pregnant woman's blood stream stems from her fetus. In 2010 in a paper published in Science Translational Medicine, Lo's group showed that enough such fragments of fetal DNA are there to reconstruct the fetus's whole genome, and that it should be possible to use this DNA to test the unborn child for genetic diseases without exposing it to the risk of an invasive procedure. "The biggest advantage is that you are saving all those babies that would be lost," says Lo.

But it is tricky to distinguish fetal DNA in the blood from the mother's DNA. One strategy makes use of subtle genetic variations that exist between a mother's pairs of chromosomes. In most cases, for a particular genetic sequence on a specific chromosome, the variants from each pair should be represented equally in the woman's blood. But in an expectant woman, whose child has received only one variant as part of its genetic inheritance, her blood will contain a little more of that variant because of the free-floating fetal DNA. If the mother's patterns of genetic variants, or haplotypes, are known, statistics allow researchers to conclude what variants she passed on to her offspring. In 2010, Lo showed that with both parents' haplotypes known, it would be possible to predict the child's genome from the DNA in an expectant mom's blood.

Text Only
Get the scoop!
  • 20140424-AMX-COFFEE24.jpg Coffee growers' prayers for rain met with threat of deluge

    Brazil's drought made arabica coffee this year's best-performing commodity. Now, farmers are facing a downpour that is once more threatening crops.

    April 24, 2014 1 Photo

  • American sunscreens need an upgrade

    The last time a new sunscreen ingredient came on the U.S. market, the Y2K bug was threatening to destroy our way of life. Intel had just introduced the Pentium III processor, featuring an amazing 500 MHz of computing power.

    April 24, 2014

  • Affirmative action ruling challenges colleges seeking diversity

    The U.S. Supreme Court's support of Michigan's ban on race-based affirmative action in university admissions may spur colleges to find new ways to achieve diversity without using racial preferences.

    April 23, 2014

  • The waffle taco's biggest enemy isn't McDonald's. It's consumer habits.

    Gesturing to Taco Bell, Thompson said McDonald's had "not seen an impact relative to the most recent competitor that entered the [breakfast] space," and that new competition would only make McDonald's pursue breakfast more aggressively.

    April 23, 2014

  • Cuba is running out of condoms

    The newest item on Cuba's list of dwindling commodities is condoms, which are now reportedly in short supply. In response, the Cuban government has approved the sale of expired condoms.

    April 23, 2014

  • A 'wearable robot' helps her walk again

    Science is about facts, numbers, laws and formulas. To be really good at it, you need to spend a lot of time in school. But science is also about something more: dreaming big and helping people.

    April 23, 2014

  • In cuffs... 'Warlock' in West Virginia accused of sexual assault

    Police in West Virginia say a man claiming to be a “warlock” used promises of magical spells to lure children into committing sexual acts with him.

    April 22, 2014 1 Photo

  • The top 12 government programs ever

    Which federal programs and policies succeed in being cost-effective and targeting those who need them most? These two tests are obvious: After all, why would we spend taxpayers' money on a program that isn't worth what it costs or helps those who do not need help?

    April 22, 2014

  • Cats outsmart the researchers

    I knew a lot had been written about dogs, and I assumed there must be at least a handful of studies on cats. But after weeks of scouring the scientific world for someone - anyone - who studied how cats think, all I was left with was this statement, laughed over the phone to me by one of the world's top animal cognition experts, a Hungarian scientist named Ádám Miklósi.

    April 22, 2014

  • Trials of the Cherokee reflected in their skulls, researchers say

    Researchers from North Carolina State University and the University of Tennessee have found that environmental stressors – from the Trail of Tears to the Civil War – led to significant changes in the shape of skulls in the eastern and western bands of the Cherokee people. The findings highlight the role of environmental factors in shaping our physical characteristics.

    April 22, 2014

  • McCain 1 House Republicans are more active on Twitter than Democrats

    Your representative in the House is almost certainly on Twitter. Your senator definitely is. But how are they using the social network? Are Democrats more active than Republicans, or vice versa? Who has the most followers on the Hill?

    April 22, 2014 1 Photo

  • Do your genes make you procrastinate?

    Procrastinators, in my experience, like nothing better than explaining away their procrastination: General busyness, fear of failure, and simple laziness are just a handful of the excuses and theories often tossed around. Now researchers from the University of Colorado Boulder have added another option to the list: genetics.

    April 21, 2014

  • Do White Castle prices tell us anything about the minimum wage?

    The paper looked at how many delicious steamed sliders the minimum wage has been able to purchase over time. The point is that as it notes, in 1981, the $3.35 minimum could buy a whole dozen. Today, at $7.25, it could purchase just 10.

    April 21, 2014

  • Can Hillary Clinton rock the cradle and the world?

    What's most interesting to contemplate is the effect becoming a grandmother will have on Hillary's ambition. It's one of life's unfairnesses that a woman's peak career years often coincide with her peak childbearing years.

    April 21, 2014

  • Smartphone kill switches are coming

    Smartphones need kill switches. It's a relatively easy solution to the pricey (and irritating) problem of smartphone theft. But who would have thought that the big carriers would team up with Apple, Google, Microsoft, Nokia, Samsung and lots of other manufacturers to voluntarily begin adding the technology by July 2015? The cooperative spirit! It makes so much sense!

    April 18, 2014

Poll

How confident are you that the immunizations for infants and children are reasonably safe?

Not at all confident.
Somewhat confident.
Relatively confident.
Extremely confident.
undecided.
     View Results
Tahlequah Daily Press Twitter
Follow us on twitter
AP Video
Stocks