June 7th, 2012
05:24 PM ET

Baby's DNA constructed before birth

Mom gave a blood sample. Dad spit. The entire genome of their fetus was born.

Researchers at the University of Washington have, for the first time, done a near-total genome sequence of a fetus in this way.  Scientists published the results of this study in the journal Science Translational Medicine, suggesting that thousands of genetic diseases could be detected in children while they are still in the fetal stage.

Everyone has two copies of the human genome: One inherited from their biological mother and one from the biological father. With technology that's being used for genetic sequencing these days, it's not possible to say which variants on the chromosome you inherited from which parent.

Scientists also sequenced the cell-free component of the mother's blood - called the plasma - where about 10% of the DNA circulating is from the child, and the other 90% is from the mother. That introduces some difficulty, since it's hard to tell exactly what comes from the child.

Currently at least some component of diagnosis for genetic disorders in certain circumstances is done using technologies such as amniocentesis, which involves taking a sample of the fluid in the sac that surrounds the fetus in the womb - the mother has to have a needle inserted into her uterus, which is a lot more complicated than a simple blood test and carries some health risks.

"This might reduce the need to do invasive testing for fetuses," said Jay Shendure, associate professor of genome sciences at the University of Washington.

The focus of the study was the genome of a fetus whose mother's blood sample was taken at 18 weeks. The analysis of her blood, the father's saliva and the plasma contributed to a nearly full picture of the fetus's genome.  This model showed that the fetus had 39 mutations that it had not inherited from either parent.

To confirm, researchers looked at the baby's umbilical cord blood after it was born. In comparing the constructed DNA (from mom & dad's samples) and this cord sample,  researchers found five additional mutations that hadn't come from the mother or the father.  On the whole, the baby's artificially constructed genome using material from the parents was more than 98% accurate.

Researchers repeated the procedure on a different couple. This time the mother was only eight weeks pregnant when she donated her sample, and the father submitted a blood sample, which was processed in the same way that the other father's saliva was. This resulted in a fetal genome sequence that was 92% accurate.

"We could have brought it higher just by sequencing her plasma more deeply," said Jacob Kitzman, lead study author and graduate research fellow at the University of Washington.

There are also parts of the genome that technology available today just cannot measure very well, Kitzman says, so that's partly why there's not a 100% accuracy here.

Is gender selection of a fetus ethical?

Eight weeks are, however, well before mothers are able to get amniocentesis, which is often used at around 16 weeks.

It took more than a month to get the results from the sequencing, which is a lot longer than would be ideal in a clinical situation, Kitzman noted. In order to become more widespread, the technique would have to be easier to administer, quicker and less expensive.

So how much does this cost? Right now, in the ballpark of $50,000, Shendure says - and while that seems like a lot, keep in mind that this whole process involved sequencing the genomes of the mother and the father, separately analyzing the plasma and then double-checking the result with a sequence from the child's umbilical cord.

The price tag for sequencing has dropped by 10,000 fold in the last five years, Shendure says, so he expects this fetal genome technique will also become less expensive over time.

In the long-term, the technique may even help garner new insights about genetic diseases, but more immediately it would be restricted to identifying the genetic disorders that we already understand, he said.

"Whether this is the sort of thing we would do on a widespread basis for all pregnancies, that’s an open question and a complex one," he said.

The complexity comes, of course, from the ethical issues that arise concerning parents who would selectively abort fetuses that are predestined for certain conditions.

The technology worries medical ethicist Harriet Washington, who fears parents could use genome sequencing to predict and selectively abort children that don't meet certain standards - not just for diseases, but for things like hair and eye color.

“If we don’t look at the dangers, if we adopt this Pollyanna attitude and only look at the benefits, then it’s really easy to end up in a situation where we are blindsided,” Washington said.

Perhaps one day, even intelligence scores or skills could be forecasted, creating a situation akin the movie "Gattaca" where babies are basically custom-created to suit the needs of parents who can afford the technology.

What do you think about all this? Share your thoughts in the comments.

soundoff (1,645 Responses)
  1. Local Marketing Agencies Near Me


    May 27, 2021 at 00:01 | Report abuse | Reply
  2. Sau Revilla

    Right here is the perfect site for everyone who would like to find out about this topic. You realize a whole lot its almost hard to argue with you (not that I actually will need to…HaHa). You certainly put a fresh spin on a topic that has been written about for decades. Wonderful stuff, just great!


    May 27, 2021 at 00:58 | Report abuse | Reply
  3. RV Solar Panels Systems California

    Your style is so unique compared to other people I have read stuff from. Thank you for posting when you've got the opportunity, Guess I will just bookmark this site.


    May 27, 2021 at 01:27 | Report abuse | Reply
  4. celebrants in australia

    Hi! Do you use Twitter? I'd like to follow you if that would be okay.
    I'm definitely enjoying your blog and look forward to new updates.

    May 27, 2021 at 03:31 | Report abuse | Reply
  5. Gerard Shenassa


    May 27, 2021 at 06:05 | Report abuse | Reply
  6. Johnny Winstanley


    May 27, 2021 at 06:26 | Report abuse | Reply
  7. rv couches

    Spot on with this write-up, I really think this site needs a great deal more attention. I’ll probably be returning to read more, thanks for the information!


    May 27, 2021 at 07:07 | Report abuse | Reply
  8. rv restoration


    May 27, 2021 at 08:50 | Report abuse | Reply
  9. Rodrigo Marett

    Pretty! This was an incredibly wonderful post. Many thanks for providing this info.


    May 27, 2021 at 10:09 | Report abuse | Reply
  10. daftar situs poker online

    Hi there, after reading this remarkable paragraph i
    am also cheerful to share my knowledge here with colleagues.

    Also visit my page – daftar situs poker online

    May 27, 2021 at 10:26 | Report abuse | Reply
  11. RV Storage Near Me


    May 27, 2021 at 11:17 | Report abuse | Reply
  12. Thomasena Knapp


    May 27, 2021 at 11:43 | Report abuse | Reply
  13. solar system repair near me


    May 27, 2021 at 11:49 | Report abuse | Reply
  14. rv repair shops

    When I originally left a comment I seem to have clicked the -Notify me when new comments are added- checkbox and from now on every time a comment is added I recieve four emails with the exact same comment. Perhaps there is a means you are able to remove me from that service? Kudos!


    May 27, 2021 at 13:06 | Report abuse | Reply
  15. RV Technician Orange County


    May 27, 2021 at 14:10 | Report abuse | Reply
  16. rv mechanics near me


    May 27, 2021 at 16:49 | Report abuse | Reply
  17. RV Tires Orange County

    I must thank you for the efforts you have put in writing this site. I really hope to view the same high-grade blog posts from you later on as well. In truth, your creative writing abilities has encouraged me to get my very own website now 😉


    May 27, 2021 at 17:42 | Report abuse | Reply
  18. windshield repair orange ca

    Aw, this was a very good post. Taking the time and actual effort to make a very good article… but what can I say… I procrastinate a whole lot and don't manage to get anything done.


    May 27, 2021 at 19:30 | Report abuse | Reply
  19. oc rv storage


    May 27, 2021 at 20:24 | Report abuse | Reply
  20. RV Entertainment System Riverside

    There is definately a lot to know about this issue. I love all the points you have made.


    May 28, 2021 at 01:22 | Report abuse | Reply
  21. RV Tires California

    Everything is very open with a really clear description of the challenges. It was truly informative. Your site is useful. Thank you for sharing!


    May 28, 2021 at 01:56 | Report abuse | Reply
  22. rv repair places near me

    Everyone loves it when individuals get together and share views. Great website, keep it up!

    https://www.iaai.com/VehicleInspection/InspectionProvidersUrl?name=AA Transit Pros Inspection Service&url=http://losguayanes.blogspot.com/2018/08/custom-sectional-sofa-orange-county-ca.html

    May 28, 2021 at 04:04 | Report abuse | Reply
  23. Internet Marketing Company


    May 28, 2021 at 04:29 | Report abuse | Reply
  24. rv alignment near me


    May 28, 2021 at 04:58 | Report abuse | Reply
  25. how to repair rv fiberglass exterior damage


    May 28, 2021 at 05:14 | Report abuse | Reply
  26. truck shops in orange county

    When I initially left a comment I appear to have clicked the -Notify me when new comments are added- checkbox and now every time a comment is added I get 4 emails with the exact same comment. There has to be a means you are able to remove me from that service? Many thanks!


    May 28, 2021 at 06:20 | Report abuse | Reply
  27. paint repair near me


    May 28, 2021 at 06:56 | Report abuse | Reply
  28. Social Media Marketing Specialists


    May 28, 2021 at 07:01 | Report abuse | Reply
  29. bus repair shops


    May 28, 2021 at 10:23 | Report abuse | Reply
  30. Digital Marketing Consultant Near Me


    May 28, 2021 at 15:09 | Report abuse | Reply
  31. RV Upgrades Orange County


    May 28, 2021 at 15:22 | Report abuse | Reply
  32. mcd shades troubleshooting


    May 28, 2021 at 17:57 | Report abuse | Reply
  33. Sprinter Van Repair Shops Near Me


    May 28, 2021 at 22:50 | Report abuse | Reply
  34. rv air conditioner repair near me

    I used to be able to find good information from your content.


    May 28, 2021 at 23:23 | Report abuse | Reply
  35. RV Technician Riverside

    Having read this I believed it was rather informative. I appreciate you finding the time and energy to put this content together. I once again find myself spending a lot of time both reading and leaving comments. But so what, it was still worthwhile!


    May 29, 2021 at 00:36 | Report abuse | Reply
  36. rv parts riverside ca

    Excellent blog post. I definitely appreciate this website. Keep writing!


    May 29, 2021 at 01:43 | Report abuse | Reply
  37. Keystone Sprinter Tank Repair Leaking

    I’m amazed, I have to admit. Rarely do I encounter a blog that’s equally educative and amusing, and without a doubt, you have hit the nail on the head. The issue is something which too few men and women are speaking intelligently about. Now i'm very happy I stumbled across this during my search for something relating to this.


    May 29, 2021 at 03:38 | Report abuse | Reply
  38. Bucket Truck Repair Shop Near Me

    Hey there! I just want to give you a big thumbs up for your great information you've got here on this post. I am coming back to your blog for more soon.


    May 29, 2021 at 05:44 | Report abuse | Reply
  39. Google Marketing Specialists


    May 29, 2021 at 09:00 | Report abuse | Reply
  40. Passenger Van Repair


    May 29, 2021 at 09:18 | Report abuse | Reply
  41. Sprinter Van Paint

    Hi, I do think this is an excellent blog. I stumbledupon it 😉 I am going to return once again since I saved as a favorite it. Money and freedom is the greatest way to change, may you be rich and continue to help others.


    May 29, 2021 at 09:24 | Report abuse | Reply
  42. Digital Marketing Company Near Me


    May 29, 2021 at 11:05 | Report abuse | Reply
  43. Celebrity Van Repair Shop

    Way cool! Some extremely valid points! I appreciate you penning this article and the rest of the site is extremely good.


    May 29, 2021 at 12:39 | Report abuse | Reply
  44. Hino Truck Repair Shop

    This page truly has all the information I wanted about this subject and didn’t know who to ask.


    May 29, 2021 at 12:52 | Report abuse | Reply
  45. Western Star Truck Repair


    May 29, 2021 at 18:22 | Report abuse | Reply
  46. Semi Truck Paint Shop


    May 29, 2021 at 20:52 | Report abuse | Reply
  47. Internet Marketing Services


    May 30, 2021 at 01:55 | Report abuse | Reply
  48. Content Marketing Consultants

    I love reading an article that can make men and women think. Also, thank you for allowing me to comment!


    May 30, 2021 at 05:53 | Report abuse | Reply
  49. Box Truck Mechanic Shop

    I wanted to thank you for this good read!! I certainly loved every bit of it. I've got you saved as a favorite to look at new things you post…


    May 30, 2021 at 06:23 | Report abuse | Reply
  50. Rv Body

    Way cool! Some extremely valid points! I appreciate you penning this write-up and the rest of the site is also very good.


    May 30, 2021 at 12:01 | Report abuse | Reply
1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29

Leave a Reply to Social Media Marketing Association


CNN welcomes a lively and courteous discussion as long as you follow the Rules of Conduct set forth in our Terms of Service. Comments are not pre-screened before they post. You agree that anything you post may be used, along with your name and profile picture, in accordance with our Privacy Policy and the license you have granted pursuant to our Terms of Service.

About this blog

Get a behind-the-scenes look at the latest stories from CNN Chief Medical Correspondent, Dr. Sanjay Gupta, Senior Medical Correspondent Elizabeth Cohen and the CNN Medical Unit producers. They'll share news and views on health and medical trends - info that will help you take better care of yourself and the people you love.