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Prenatal test raises ethical questions

A recently developed and newly released Stanford-created blood test can detect Down syndrome and two other major genetic defects at early stages of pregnancy. Experts have expressed concerns, however, about the ethics of knowing a fetus’s genetics during a period of pregnancy when abortion is both safer and more commonly legal.

 

The $1,200 test, which analyzes fetal DNA in expectant mothers at 10 weeks, is being offered by Verinata Health — a Redwood City biotechnology company — which licensed a technique designed by Stanford biophysicist Stephen Quake.

 

A Verinata-sponsored clinical trial, published in the journal of the American Congress of Obstetrics and Gynecology, demonstrated the test’s effectiveness. The technique was able to predict all 89 cases of Down syndrome in 532 maternal blood samples, 35 of 36 cases of Edwards syndrome and 11 of 14 cases of Patau syndrome.

 

(AUBRIE LEE/The Stanford Daily)

The new test offers the possibility of being able to examine fetal DNA as early as five weeks into pregnancy and to test it with just a blood drop, according to Stanford Law School professor and technology ethics expert Hank Greely ‘74.

 

The blood test eliminates the risk of more invasive tests such as amniocentesis, which can only be carried out later in pregnancy and create a higher risk of miscarriage. The blood test counts the millions of free-floating fetal DNA in maternal blood, detecting excessive genetic material that might signal a birth defect.

 

“This would not entirely replace the more invasive method of amniocentesis, but it might significantly reduce the number of mothers that undergo amniocentesis,” wrote Ahmad Salehi, a clinical associate professor in the Stanford School of Medicine, in an email to The Daily.

 

“This is the first step toward a real transformation to how we have babies in this country,” Greely said. “We’ve been able to do prenatal testing for over forty years but it involves difficult, expensive, unpleasant, risky procedures. This is no long needle or invasive procedure.”

 

“There are five million pregnancies in the world and 2 percent get genetic testing,” Greely added. “In a few years, this kind of testing will be very common.”

 

While testing is currently limited to Down syndrome, Edwards syndrome and Patau syndrome, the technique may be broadly applied in the future.

 

“Soon you will be able to look at any section of the genome you want,” Greely said. Doctors would be able to see if the fetus has Tay Sachs disease, sickle cell anemia, “if they’re a redhead, a boy or a girl.”

 

The test opens up “broader discussions,” according to Greely.

 

“We need to let parents have complete decision-making power,” he added. “It’s just better than having the government decide what you can and can’t do in pregnancy.”

 

“I believe the availability of rather easy techniques for prenatal detection of Down syndrome would be like a double-edged sword,” Salehi wrote. “On the one hand, it may lead to an increase in abortion rates of fetuses with Down syndrome. However, it may also open up a new window for early detection and treatment.”

 

“It needs to become more accurate to become diagnostic. Right now it’s recognized as screening, not as diagnostic,” added Greely. “By making it easier to test you make it easier to terminate pregnancies you don’t want. It raises some hard questions for some people.”

(AUBRIE LEE/The Stanford Daily)

“Our research has shown that among more than 300 genes triplicated in Down syndrome there are a few genes that play major roles in cognitive disabilities,” Salehi wrote. “For this reason, targeting these specific genes and reducing their expression to normal in utero might be a fundamental therapy for children with Down syndrome.”

  • http://www.facebook.com/people/Leticia-Velasquez/1653352466 Leticia Velasquez

    I have no problem with technology, but I think our funds are better spent enhancing lives . Dr William Mobley formerly of Stanford, now at UC San Diego is now conducting clinical tests in Roche Laboratory on a new molecule which could normalize the cognitive delays of individuals with Down syndrome. 
    He said at a the Neuroscience Conference in Washington DC hosted by  Lejeune USA that he is very optimistic about the future of Down syndrome research. This type of information is rarely given to mothers faced with the knowledge that their baby has Trisomy 21, yet it gives me, the mother of a ten year old daughter, a reason for hope. 

  • Leskruth

    When I was pregnant I told my pediatrician that I did not want any extraordinary measures taken for a severely damaged child. I would have aborted a Down Syndrome baby. I had amnio and I thought it was a gift to know what my baby’s status was. I was an older mother and my chances were 1/150 when I had my second child…now at Stanford. Call me heartless, but I believe that life deals us enough challenges without adding Down’s. I also have seen families that are so happy to have raised a Down child. I just know it would not have been for me. Does it concern anyone in these times of uncertain public support that birthing challenging babies who will grown into adults that will need lifetime attention will fall to the State? And I say that as a thoughtful Democrat!!

  • Samantha

    I would love to hear medical anthropologist and Stanford professor Sandra Soo-Jin Lee weigh in on this. It would be wonderful to have a follow-up article with her views. http://bioethics.stanford.edu/people/resumes/lee.html

  • None

    Economic infanticide?  Lovely.

  • brad12345

    All i can tell you is the Brad of 5 years ago would have confidently agreed with you. I could have easily launched into the lead, touting economic costs vs. Benefits,etc. And i would have believed it, even though my engagement with people with DS was limited.

    Then my first daughter was born with a little something extra, Down syndrome. It was a complete surprise and the greatest tragedy of my life. Inside i saw her the way you are viewing people with DS, as a normal person minus a set of skills, abilities, and opportunities.

    After a period of mourning, i began to realize she was one of the greatest gifts i could ever be given. She has taught me more about the meaning of life than all the years that proceeded her birth. And then I began to speak with lots of other parents. And they said the same thing…..overwhelmingly. It turns out the common understanding of DS is 180 degrees out from the reality.

    For you or not (and trust me, you can’t know until you experience it), your speech indicates you are attempting to push your opinions forward into public policy….with talk of impacts to society. If i were to use a similar arguement against your reproductive rights and your choice, it would not stand (and rightfully so), so you should not embrace policy that would steal others’ choices. Especially when it is an amazing and wonderful life!

  • Vanessa

    My daughter has Trisomy 13 and I am Director of the Living With Trisomy 13 website. How horrible that parents are allowed to simply erase a life that is not perfect. Isabel has an EXTRAordinary life with her EXTRA chromosome. This test is going to ERASE all genetically challenged children. Take what GOD gives you, accept his blessing, and be thankful. There is no greater joy rhan being a special needs parent. My husband and I love Isabel just as much as our FIVE other children.

  • Ashleeblevins09

    My son was born with Trisomy 13 Grayson was the best thing that has ever happend to my family! We found out at 18 weeks that he had it I thought it was conpletly out of control that the doctors tried to push aborting him on me! God wont give you anything you cant handle!!!! If you abourt a baby just because they are not normal not only are you selfish you will have to live the rest of your life knowing you killed your baby because they would have been a burden to you! We can not play god!!!! God should be the one to decide who lives and who doesnt!!!! Grayson blessed us with the 7.5 most amazing hours of my life!! I like the idea of being able to detect something wrong to be able to prepare yourself for that amazing baby but to abort them is awful!! Babies that just have downs can live pretty normal lifes.. All the babies born with something alittle extra just make them that much more special! I am a very proud momma of an amazing and beautiful baby boy who just happend to have Trisomy 13 <3

  • George

    I don’t think you’re being entirely accurate when you say “embrace policy that would steal others’ choices,” Brad.  No one is mandating that children with Downs be aborted.

  • http://liftedupbyds.wordpress.com/ Brad

    George, you are entitled to your opinion. That being said, I have met eough genetic counselors, parents of chilren wit DS, and people with DS to know the facts. Testing and counseling focus on the negitive aspects of DS and how it deviates from “normal”. If it were to provide a balanced view, then the 90% abortion rate would be much closer to the 1% to 2% of parents with a child wit DS that have a lot of difficulty adjusting. For us remaining 98% it ends up being more positive than we could ever imagine based on preconcieved notions and the implanted biases of the medical community.

    There are studies that back all of these facts up. But in the end, the mere fact there is a screening test for a genetic difference accompnied by words like “adverse outcome” tells parents that it is “BAD” when in fact most of us parents don’t feel that way. The true reason the test exists is because it is super simple to diagnoses verus other genetic differences….i mean its an entire extra chromosome. Its economics for the testing industry, not severity of the outcome.