Latest DNA test for Down’s syndrome is 10 times more accurate

Posted on Mar 1 2014 - 7:02am by Abby Smith

The importance of Pre-natal testing for chromosomal aberrations in the body has been emphasized in a study conducted by the New England Journal of Medicine. The latest DNA test, which has been developed by researchers to screen Down syndrome and other related diseases are dramatically accurate. The new test is based on DNA sequencing and it will be used to identify Down syndrome and other related diseases.

"Latest DNA test for Down’s syndrome is 10 times more accurate"

The latest tests are said to be 10 times more accurate than conventional tests used today. Cell-free DNA test or cfDNA test is the name given to this test by researchers where the Doctor analyzes the fetal DNA which is circulating in the mother’s blood.

This genetic test is being marketed by Illumina Inc. of San Diego, California which also had footed the bill for the research. A crack team of researchers have perfected this genetic test which gave far less false results among the 1,941 women and the results were compared with the conventional standard serum screening methods. The tests were conducted as early as 10 week of pregnancy.

The latest research was published in the New England Journal of Medicine on Wednesday.

The latest research can open up a lucrative $6 billion market to biotechnology companies which are already selling these tests. Such tests usually carry a price tag of $700 to $2500.

CDC or the Centers for Disease Control & Prevention figures reveal that there are 6.6 million pregnancies and over 4 million births every year in the US and if the tests are effective it will open up good business opportunities.

Diana W. Bianchi led a team of researchers, MD; Executive Director of the Mother Infant Research Institute at Floating Hospital for Children located at Tufts Medical Center said,  “We found that the major advantage of noninvasive prenatal DNA testing was the significant reduction of the false positive rate,” further initialed “Prenatal testing using cell-free DNA as a primary screen could eliminate the need for many of the invasive diagnostic procedures (such as amniocentesis) that are performed to confirm a positive screen.”

  • zzzzz

    Illumina is the producer of the DNA sequencer used by Sequenom. Illumina does not market the the test, it only provides the hardware and sequencing supplies.

  • Jerry

    @Jack Carter – Except the Dr. Who named the syndrome after his last name id “Down” – thus the use of the possessive form is still legit! Dauuarrr ;)

  • bozozozo

    Down Syndrome vs Down’s Syndrome is the least of her worries in this article.

  • Jack Carter

    Ms. Stackhouse, you probably didn’t write the headline for your article here, but it says “Down’s Syndrome” when the correct term is “Down Syndrome”.

    • Jerry

      @Jack Carter – Except the Dr. Who named the syndrome after his last name is “Down” – thus, the use of the possessive form is still legit! Dauuarrr ;)

      • bozozozo

        not really. though the general public uses the possessive interchangeably, the correct standard form is Down Syndrome.

        • Jerry

          It is named after John Langdon Down, the British doctor who fully described the syndrome in 1866. So to call it “Down’s syndrome” is still appropriate and there isn’t anything wrong with the Title of this article.

          • Dave

            You are incorrect. While I understand your thought process of the application of the possessive idea, the technical name for the disorder is “Down Sydrome”. As such it no longer has any connection to John Langdon Down in regards to the name and it’s usage. It is similar in nature to the naming of the Epstein-Barr Virus. You would never call it Epstein-Barr’s virus though it was discovered and named by the two scientists. As the father of a child with Down Syndrome I have studied the disease and subsequently the name thoroughly. You are absolutely incorrect but it is understandable as many intelligent people make the same mistake – the naming of this article being a perfect example.

          • Jerry

            Yes, you could call it “Epstein-Barr’s virus” if you intended to use it in that way – possessively. If the author of the article intended for it to be used, there is nothing wrong with,
            “Latest DNA test for Down’s syndrome is 10 times more accurate”

          • Jerry

            I understand the technical term is not normally used possessively! But in terms of how it is used for the title of this article, there is nothing wrong with it – considering the doctor’s last name is Down. And though I sympathize with your affliction – just because you have a child with Down Syndrome doesn’t mean you’re more qualified to correct anyone on the use of the terms being possessive or not. What if I said I have a PhD in English Literature and am a medical professional?

          • Dave

            Jerry – My apologies if I came on too strong, I did not mean to offend.

            Perhaps it is my closeness to Down Syndrome that makes me a bit of a stickler regarding the name. I did not mean to insinuate that my sons diagnosis makes me more qualified, only that it prompted me to learn as much about the disorder as possible to help him have the best life he can. It was during that study that I first came across the discussion of the name and it’s usage in modern culture – most notably as it relates to the possessive and non possessive usage.

            With regard to that I’ll have to respectfully disagree but I do apologize for any offense as that was absolutely not my intention.

            Best regards.

          • Sameboat1

            While you are at it, the possessive of “it” is its. Not it’s. Glass houses, and all.

  • Peatbogjeff

    Are we really continuing to descend into this further, encouraging scientists to play god and meddle with the womb, with the genes? Do we really want to inhabit a world where the bloody sin of abortion eliminates real people who might not be perfect?

    We are so far in blood that sin will pluck on sin.

    • bozozozo

      it is not the scientists who are meddling. they are just providing the information to prospective parents, so the parents can do the meddling.

      it is certainly not legitimate to abort a fetus that has a disease that is fatal early in life (this doesn’t include Down Syndrome kids, who can life a long life): I think it’s so much better to let the child be born and suffer through whatever life it has left. And let the family suffer too. that’s really God’s will. I asked Him, and He told me that was His intent.

  • Phil

    It would be sad if Down’s Syndrome fetuses and the families that would raise them were not spared a life of unimaginable difficulty by failing to terminate after getting positive test results.

    • Dave

      Phil – FYI – It is “Down” Syndrome not “Down’s” Syndrome, please educate yourself about a disorder before you advocate the termination of the lives associated with it. I can only assume that your incredible insensitivity is a symptom of an extreme level of ignorance. Therefore I will forgive this idiotic post, not necessarily because I want to, but because my son – who has “Down” Syndrome would no doubt tell me it was the right thing to do.

      You see, he has a capacity for love and forgiveness that is so far beyond mine and anyone else I know that it is incredible. He is the light of every place we go. He brightens the day of nearly every person he interacts with. His educators and counselors tell his mother and I unequivocally that he can have a very long and productive life. It is the focus of my life to insure that he does.

      My son will finish school, get a job, pay taxes, live on his own, maybe even get married and contribute to society…just like you do (or I assume you do).

      However, where my son will by far eclipse any contribution that you would ever contribute to this world (or myself for that matter) will be in areas such as his ability to impart compassion to everyone he meets. His ability to love absolutely unconditionally regardless of race, color, gender, social status or any other contributing factor. His ability to smile, and bring a smile to the faces of nearly anyone he meets. His willingness to help anybody in need with whatever means he has available. The list goes on and on.

      He is a beautiful blessing on our lives and anyone who knows him as are millions of other individuals living with “Down” syndrome or the many other disorders that exist.

      Your thoughtless post is sadly a widely held position among those who consider themselves “progressive” in this world. I’m assuming you consider yourself a thoughtful and intelligent person. As such I would hope that you would the take some time to educate yourself about the individuals who’s lives you think would have been better off aborted. Maybe even spend some time with them, and while you are enjoying their company ask yourself if they really deserve to have been terminated as you suggest they should.

      It just might make your day…and maybe even change your life. One thing for sure, you would learn far more from them then they would ever learn from you.

  • Dave W

    Wonder how it copmares to test system developed by Sequenom??

  • if6ws9

    It’d be a shame if this test weighted a decision not to keep a child with Down’s Syndrome.

    • Dave W

      That’s a very personal decision. I’ve been told that parents must also consider how child is going to affect their other children. The brothers and sisters will have to help for the rest of their lives.

      • if6ws9

        Helping others shouldn’t be something to avoid. In years past children with Down’s were institutionalized, a tragic result of ignorance. I have a son with Down’s who is 27 now and from the day he was born he hasn’t been any kind of challenge for me, my wife or his brother and sister. HIs extraordinary personality, innocence, and love eclipses any inconveniences that might be perceived by others. Early intervention assured that he’d be high functional. He graduated from HS (in a special program), has a job, a girlfriend and a great social life. You can’t be in the same room as him and be in a bad mood. He changed my life for the better, every family should be this lucky.

        • bozozozo

          the problem is that every family with a Down child is not as lucky as you are.

          • if6ws9

            Since we’re speaking from first hand experience (I assume that you are), I haven’t met anyone with a Down’s child who didn’t consider themselves fortunate.

    • Sameboat1

      I have never heard of a person with Down’s syndrome committing a violent (or any) crime.

      • if6ws9

        Violence is anathema to their personality

    • Sameboat1

      I noticed that this article seems to concentrate of the business opportunities of this test, almost assuming that everyone would “terminate” a Down’s pregnancy. Follow the money…

      • if6ws9

        seems so…