Sequenom Noninvasive Prenatal Down Syndrome Test Proven Accurate

Wednesday, September 24, 2008 15:45

Posted in category Pregnancy

DNA Strand Earlier this year, I discussed an early, noninvasive test for fetal chromosomal disorders like Down syndrome that was being developed by a company called Sequenom. You can read more about it here and here. This week, Sequenom announced additional study results, showing that their circulating cell-free fetal (ccff) nucleic acid SEQureDx™ Technology had had no false positive or false negative results in over 200 samples taken during the first and second trimester of pregnancy.

This is exciting news, because it shows that the test is both accurate, and is useful early in pregnancy. Sequenom hopes to release its test for commercial use in June 2009.

6 Responses to “Sequenom Noninvasive Prenatal Down Syndrome Test Proven Accurate”

Kathy says:

September 24th, 2008 at 8:22 pm

This is ‘exciting’ news? As the mother of a 10 yr old son with Down syndrome, I am saddened by your attitude. What is exciting about a test that is specifically used to wipe out people with Down syndrome? Do you know any people with Ds? If so, I am stunned that you would be ‘excited’ by the news that eugenics is a reality for this population..if you don’t know anyone with Ds, educate yourself…meet a family who has a child with Ds, and see if they are ‘excited’ about this search and destroy test. The excitement about this test is so ironic in view of the recent promising research into improving cognition in people with Ds..did you report on that as well? or is the news only ‘exciting’ if there is a possibility that people w/Down syndrome will be eradicated?
Kristie says:

September 25th, 2008 at 9:28 am

Kathy-

My comments have NOTHING to do with eugenics. They have to do with the fact that other tests for Down syndrome are either imprecise (quad screen, ultrasound), or invasive and potentially dangerous to the fetus (CVS, amniocentesis).

False positive results on quad screens cause a lot of undue stress for pregnant mothers, as well as many unnecessary invasive procedures during pregnancy. In addition, this test will eventually be able to detect other chromosomal abnormalities (trisomy 18 and 15), which are typically considered fatal.

One of my children had a “soft marker” for Down syndrome on ultrasound. We were told by a specialist, that our baby “probably” didn’t have trisomy 21, and that they felt the risk to the pregnancy was too great to consider an amnio in our circumstance. That left us worrying and wondering for the next few months – something I really wouldn’t want to go through again.

As a mother, I want the opportunity to have accurate information about problems with my baby as early as possible. Especially when they might be accompanied by heart or other abnormalities that might require immediate attention after birth. This would give us the opportunity to find the right pediatrician, early intervention services, etc, and connect in advance with other parents going through the same thing – all things we didn’t have the opportunity to do when another of our children was born extremely premature, with multiple medical complications.

Some parents don’t want to know at all, and in that case, they can skip the test altogether, like many mothers already do with the quad screen.

As for the other study you mentioned, I haven’t seen it, but if you would like to send me a link, or the journal it was in, I’d be happy to discuss it here some time in the next week or two.

-Kristie
Lisa says:

October 23rd, 2008 at 10:19 pm

Hi Kristie. I think the new testing is great. I had the nuchal translucency checked during the first trimester with my baby. I would not risk an amnio but it was wonderful to have the non-invasive testing and see my risk drop dramatically. As far as I’m concerned, it’s not a question of eugenics. For me it was just peace of mind. Pregnancy can be full of worries and it’s wonderful to cross one off the list.
Kristie says:

October 23rd, 2008 at 11:13 pm

Lisa – I totally agree. A little peace of mind can go a very long way. Especially if you’ve had problems of any kind in a previous pregnancy!
Stacey says:

March 25th, 2009 at 11:02 am

Hi Kristie,

Thank you for posting this. I am in the same boat as you were – one soft marker came up on my 20 week u/s, although all my first trimester quad screening and level 2 u/s came back absolutely perfect (1 in 7,000 chance for DS). That one marker has left me worried 24/7, but I refuse to do the amnio. I wouldn’t terminate based on the results – I would love to have an non-invasive test to tell me whether or not I’m having a DS baby so I can prepare. If you hear of any non-invasive testing available before August 2009 (my due date), please let me know!
Kristie says:

April 3rd, 2009 at 2:02 pm

Wow, I can totally relate to the stress you’re under right now. I wish these blood tests would become available soon enough for them to ease your mind. I definitely had a big “what if?” hanging over my head right up until our daughter was delivered.