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Life Sciences => Physiology & Medicine => Topic started by: thedoc on 12/06/2012 19:50:58

Title: Can a genome be sequenced before birth from maternal blood?
Post by: thedoc on 12/06/2012 19:50:58
Using blood from a mother midway through her pregnancy, researchers have successfully sequenced the complete genome of the woman's unborn child.

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Title: Re: Can a genome be sequenced before birth from maternal blood?
Post by: CliffordK on 08/06/2012 02:21:41
That is pretty extraordinary, although a $50K price tag is a bit on the high side.

I had heard that a few years ago one could search for Y chromosomes in the maternal blood.  This is a huge step forward.

What is it in the plasma that is carrying the DNA? 

Is there any way to do paternal RNA fluorescent labelling and cellular selection?  Or would that only get half the DNA?
Title: Re: Can a genome be sequenced before birth from maternal blood?
Post by: evan_au on 10/06/2012 04:55:00
The technology of DNA sequencing is progressing exponentially, so the cost is just a matter of time.

I think the long-term benefit of this technique is if they can read the DNA sequence early enough so that genetic surgery could be done to correct any problems at an early stage, which would then benefit the whole baby.

Of course, genetic surgery is still very much in its infancy.
Title: Re: Can a genome be sequenced before birth from maternal blood?
Post by: CliffordK on 10/06/2012 06:04:46
Yes, undoubtedly the price will come down.  But, how far?

Of course the amniocentesis is much simpler, and thus cheaper as one just gets baby DNA, but it brings risks with it.

The peripheral maternal blood test is far more complex because it requires sequencing the paternal DNA, the maternal DNA, and also separating the maternal chromosomes and sequencing each maternal chromosome independently.

And, then I presume they have to sequence perhaps 10x as much DNA in the plasma, getting both maternal and baby
DNA.

Perhaps one should concentrate on peripheral blood screens for genetic diseases carried by the father which could potentially be easy to screen for.
Title: Re: Can a genome be sequenced before birth from maternal blood?
Post by: SeanB on 10/06/2012 19:12:48
Expect that the price will halve with every generation of machine, so in 5 years it will be common.