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American Morning

Paging Dr. Gupta: Better Prenatal Down Syndrome Testing May Soon be Available

Aired October 09, 2003 - 09:44   ET

THIS IS A RUSH TRANSCRIPT. THIS COPY MAY NOT BE IN ITS FINAL FORM AND MAY BE UPDATED.

THIS IS A RUSH TRANSCRIPT. THIS COPY MAY NOT BE IN ITS FINAL FORM AND MAY BE UPDATED.


SOLEDAD O'BRIEN, CNN ANCHOR: Pregnant women could soon be able to take a test for Down syndrome that is more accurate and produces answers sooner than the standard test. Dr. Sanjay Gupta in Atlanta.
Sanjay, good morning again.

DR. SANJAY GUPTA, CNN MEDICAL CORRESPONDENT: Good morning, Soledad.

Better and sooner, those are the two descriptions of this particular test. It is not ready for the masses yet. It is still being studied, but certainly gaining a lot of enthusiasm.

We're talking about a screening test for Down syndrome. It's a test performed around the world for a long time now and is now being studied here in the United States. Specifically, this is a first trimester screening, this is a very important point because the existing standards for screening for Down syndrome occur in the second trimester. This would obviously move up the screening earlier. It consists of two blood tests, an ultrasound of the fetus and as well as the mother's age.

Let me tell you quickly the existing -- it's also 85 percent effective. That's obviously an important point as well. Let's distinguish that really quickly from the existing tests right now, the existing standards for Down syndrome performed in the second trimester, Typically around 20 week. A triple screen as well looking at specific hormone levels.

Both of these, Soledad, are considered screening tests. The screening tests that is currently in existence, about 60 to 65 percent accurate. The one that is possibly being proposed about 85 percent accurate. They are both screening tests to diagnose Down syndrome a little bit more accurately.

There are diagnostic tests. Most people have heard of a lot of these diagnostic tests. They consist of things like amniocentesis, something known as chorionic villus sampling. That is basically taking some blood cells. And also percutaneous umbilical cord sampling, taking some blood from the umbilical cord itself.

Soledad, there's been a lot efforts really to try and diagnose some of these genetic disorders earlier in a woman's pregnancy so that the parents may do with that the information what they might. This may be a step towards that. Again, we talked to a lot folks about this. This is not ready publicly for the masses yet, is not ready to become the new standard. But it might be in the near future -- Soledad.

O'BRIEN: Sanjay, since everyone knows that the age is highly correlated to the prevalence of Down syndrome in a mother and the baby -- the mother's age rather -- how come they wouldn't use this new test in conjunction with those other tests? I mean use it in the meanwhile until they can say we can rely on this one?

GUPTA: Very good question, Soledad. A couple of points here. When you use some of these new screening tests you're talking in part about the possibility of false positive rates as well. The false positive rate with these new tests somewhere around 9 percent. That's at least in the initial study here. That's obviously a little bit of a concern. If you're getting that high a false positive rate what are you going to do with the information afterward?

Also this study was based on 8,000 -- 8,200 women in the United States. It has been performed around the world. I think they want some larger clinical trials to actually see how those numbers pan out with larger groups of women. There is a both ethical as well as scientific issues with regards to tests like this. I think they want to be very sure that the numbers are going to be what they are seeing at least initially.

O'BRIEN: So if it's just a blood test, then there's no invasive procedure involved?

GUPTA: The screening tests involves two blood tests and also involves an ultrasound which is sort of a newer component of the screening test. You're actually performing an ultrasound of the baby, looking for the characteristic changes that occur with a child that has Down syndrome. There's some fluid collection in certain places within the child's body. That can be detected in ultrasound.

Again, those four things together, the two blood tests, the ultrasound and the maternal age, about 85 percent effective in actually screening women for Down syndrome.

O'BRIEN: Lots of women want that information. Sanjay, thanks. Appreciate it.

TO ORDER A VIDEO OF THIS TRANSCRIPT, PLEASE CALL 800-CNN-NEWS OR USE OUR SECURE ONLINE ORDER FORM LOCATED AT www.fdch.com




May Soon be Available>


Aired October 9, 2003 - 09:44   ET
THIS IS A RUSH TRANSCRIPT. THIS COPY MAY NOT BE IN ITS FINAL FORM AND MAY BE UPDATED.
SOLEDAD O'BRIEN, CNN ANCHOR: Pregnant women could soon be able to take a test for Down syndrome that is more accurate and produces answers sooner than the standard test. Dr. Sanjay Gupta in Atlanta.
Sanjay, good morning again.

DR. SANJAY GUPTA, CNN MEDICAL CORRESPONDENT: Good morning, Soledad.

Better and sooner, those are the two descriptions of this particular test. It is not ready for the masses yet. It is still being studied, but certainly gaining a lot of enthusiasm.

We're talking about a screening test for Down syndrome. It's a test performed around the world for a long time now and is now being studied here in the United States. Specifically, this is a first trimester screening, this is a very important point because the existing standards for screening for Down syndrome occur in the second trimester. This would obviously move up the screening earlier. It consists of two blood tests, an ultrasound of the fetus and as well as the mother's age.

Let me tell you quickly the existing -- it's also 85 percent effective. That's obviously an important point as well. Let's distinguish that really quickly from the existing tests right now, the existing standards for Down syndrome performed in the second trimester, Typically around 20 week. A triple screen as well looking at specific hormone levels.

Both of these, Soledad, are considered screening tests. The screening tests that is currently in existence, about 60 to 65 percent accurate. The one that is possibly being proposed about 85 percent accurate. They are both screening tests to diagnose Down syndrome a little bit more accurately.

There are diagnostic tests. Most people have heard of a lot of these diagnostic tests. They consist of things like amniocentesis, something known as chorionic villus sampling. That is basically taking some blood cells. And also percutaneous umbilical cord sampling, taking some blood from the umbilical cord itself.

Soledad, there's been a lot efforts really to try and diagnose some of these genetic disorders earlier in a woman's pregnancy so that the parents may do with that the information what they might. This may be a step towards that. Again, we talked to a lot folks about this. This is not ready publicly for the masses yet, is not ready to become the new standard. But it might be in the near future -- Soledad.

O'BRIEN: Sanjay, since everyone knows that the age is highly correlated to the prevalence of Down syndrome in a mother and the baby -- the mother's age rather -- how come they wouldn't use this new test in conjunction with those other tests? I mean use it in the meanwhile until they can say we can rely on this one?

GUPTA: Very good question, Soledad. A couple of points here. When you use some of these new screening tests you're talking in part about the possibility of false positive rates as well. The false positive rate with these new tests somewhere around 9 percent. That's at least in the initial study here. That's obviously a little bit of a concern. If you're getting that high a false positive rate what are you going to do with the information afterward?

Also this study was based on 8,000 -- 8,200 women in the United States. It has been performed around the world. I think they want some larger clinical trials to actually see how those numbers pan out with larger groups of women. There is a both ethical as well as scientific issues with regards to tests like this. I think they want to be very sure that the numbers are going to be what they are seeing at least initially.

O'BRIEN: So if it's just a blood test, then there's no invasive procedure involved?

GUPTA: The screening tests involves two blood tests and also involves an ultrasound which is sort of a newer component of the screening test. You're actually performing an ultrasound of the baby, looking for the characteristic changes that occur with a child that has Down syndrome. There's some fluid collection in certain places within the child's body. That can be detected in ultrasound.

Again, those four things together, the two blood tests, the ultrasound and the maternal age, about 85 percent effective in actually screening women for Down syndrome.

O'BRIEN: Lots of women want that information. Sanjay, thanks. Appreciate it.

TO ORDER A VIDEO OF THIS TRANSCRIPT, PLEASE CALL 800-CNN-NEWS OR USE OUR SECURE ONLINE ORDER FORM LOCATED AT www.fdch.com




May Soon be Available>