Early test for Down Syndrome first trimester

Curiosity

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Jul 30, 2005
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http://www.examiner.com/a-483411~Group_Recommends_Down_Syndrome_Testing.html


Group Recommends Down Syndrome Testing

http://digg.com/submit?phase=2&titl...1~Group_Recommends_Down_Syndrome_Testing.html
By LAURAN NEERGAARD, The Associated Press
Dec 31, 2006 7:43 AM (1 day ago)

WASHINGTON - There's a big change coming for pregnant women: Down syndrome testing no longer hinges on whether they're older or younger than 35. This week, the American College of Obstetricians and Gynecologists begins recommending that every pregnant woman, regardless of age, be offered a choice of tests for this common birth defect.

The main reason: Tests far less invasive than the long-used amniocentesis are now widely available, some that can tell in the first trimester the risk of a fetus having Down syndrome or other chromosomal defects.
It's a change that promises to decrease unnecessary amnios - giving mothers-to-be peace of mind without the ordeal - while also detecting Down syndrome in moms who otherwise would have gone unchecked.
The new guideline is published in the January issue of the journal Obstetrics & Gynecology.

About one in 800 babies has Down syndrome, a condition where having an extra chromosome causes mental retardation, a characteristic broad, flat face and small head and, often, serious heart defects.
Age 35 was always a somewhat arbitrary threshhold for urging mothers-to-be to seek testing. Yes, the older women are, the higher their risk of having a baby with Down syndrome.

But it's a gradual increase in risk - from one in 1,200 at age 25 to about one in 300 at age 35. Nothing suddenly changes at the 35th birthday. Indeed, because more babies are born to younger women than older ones, women under 35 actually give birth to most of the nation's children with Down syndrome.
"It's clear there's no magic jump at 35," said Dr. James Goldberg of San Francisco Perinatal Associates, a member of the ACOG committee that developed the guideline. "We've done away with age 35 because the screening tests have gotten much better."
It's not just a question of whether to continue the pregnancy. Prenatal diagnosis also is important for those who wouldn't consider abortion, because babies with Down syndrome can need specialized care at delivery that affects hospital selection, he added.
The original age-35 trigger was chosen years ago when doctors had less information about the risk of Down syndrome, and the only choice for prenatal detection was an amnio, using a needle to draw fluid from the amniotic sac, he said. Amnios are highly accurate but were reserved for women at higher risk of an affected pregnancy because they occasionally cause miscarriage. A study this fall put the miscarriage risk at one in 1,600 pregnancies, far lower than previous estimates.
Also today, women have more options. Doctors already frequently offer younger women blood tests that don't definitively diagnose Down syndrome like an amnio or a similar invasive test called chorionic villus sampling - but that can signal who's at higher risk.
The newest method, topping ACOG's recommendation for everyone, is a first-trimester screening that combines blood tests with a simple ultrasound exam, called a "nuchal translucency test" to measure the thickness of the back of the fetal neck.
Studies from England, where the nuchal translucency combo has been used for about a decade, and the U.S. conclude that screening method is more than 80 percent accurate, with a very small risk of falsely indicating Down syndrome in a healthy fetus. It is performed between 11 and 13 weeks into pregnancy, and women are usually given numerical odds of carrying an affected fetus.
A woman determined to be high risk then still has time for an invasive test to tell for sure.
Women who don't seek prenatal care until the second trimester can still undergo blood tests known as the triple or quadruple screens.
The guideline also says women of any age can choose to skip the screening and go straight for invasive testing, an approach that might appeal to those with chromosomal defects in the family.
"This new recommendation makes a lot of sense," said Dr. Nancy Green of the March of Dimes. "Maternal age no longer plays such an important role because the screening is better."
Each test comes with pros and cons, and the new guideline advises doctors to check what's available in their communities - nuchal translucency testing isn't easy to get everywhere - and discuss the best options with each patient.

My question is: What if genetic testing confirms abnormality? What then?
 

tamarin

House Member
Jun 12, 2006
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Easy question! Obviously, the intent is to suggest abortion. Medical care costs are rising rapidly everywhere in the western world as the full shock of demographic paralysis sets in. Boomers are about to test the solvency of all western health systems. So here we have an oh-so-easy bottom-liner. Identify and eject kids who fit a negative profile.
I'm sure authorities will deny it. It's all dung. Check the numbers in a few years once the system's in place. DS babies will be in sharp decline.
I must say despite the hardship and challenge borne by such individuals they have been some of the most extraordinary human beings I've met.
 

Curiosity

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Jul 30, 2005
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Tamarin

I agree about people with Down - we could all use a dose of the joy and expectation of life these people share - makes me wonder who's getting the most out of life...and intellect seems to be an impediment if
some highly endowed people are an example.

I felt personally it looked like an easy "abortion" argument - but then again if they are making progress at early identification of genetic abnormalities of ALL kinds of defects in humans - this could be a good thing. I wonder why genetic testing isn't done as a regular thing - especially when couples are planning
marriage and families. At least preparation an decisions can be made under less stressful conditions.

And hopefully one day - reparation of genetic markers for disease - that would truly be an accomplishment.
 

tamarin

House Member
Jun 12, 2006
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Certainly, advances in the lab will bring benefit. But along with that benefit will come losers too. You've highlighted one in your initial post.
 

Kreskin

Doctor of Thinkology
Feb 23, 2006
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During my wife's pregnancy she was given a 48% chance of a genetically abnormal child. We elected to do an amnio. We also discussed "what if". We felt that downs probably wouldn't be enough to terminate the pregnancy but felt it was best to know in advance so we could prepare for the necessary care, or at least it would give us an opportunity to make an informed decision to continue or not. It also allowed us to put our minds at ease for the last half of the pregnancy. Having gone through that I wouldn't have it any other way. I wouldn't want a life altering surprise and be unprepared.

I think anyone doing the nuchal translucency test and getting a positive for downs would also want confirmation by amnio.

Check out the pregnancy calculator I created. I used multiple sources of information to conclude the dates, including prenatal testing date ranges, however the "Multiples Due Dates" is by average approximation.

http://www.ivf.ca/calcu.htm
 
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Ariadne

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Aug 7, 2006
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During my wife's pregnancy she was given a 48% chance of a genetically abnormal child. We elected to do an amnio. We also discussed "what if". We felt that downs probably wouldn't be enough to terminate the pregnancy but felt it was best to know in advance so we could prepare for the necessary care, or at least it would give us an opportunity to make an informed decision to continue or not. It also allowed us to put our minds at ease for the last half of the pregnancy. Having gone through that I wouldn't have it any other way. I wouldn't want a life altering surprise and be unprepared.

I think anyone doing the nuchal translucency test and getting a positive for downs would also want confirmation by amnio.

Check out the pregnancy calculator I created. I used multiple sources of information to conclude the dates, including prenatal testing date ranges, however the "Multiples Due Dates" is by average approximation.

http://www.ivf.ca/calcu.htm

IVF ... I remember when my youngest was born and I was at the playgroup with all the other moms. I was surprised at how many of them were a little older ... like late thirties. They were all sitting around talking about their IVF experiene, and it took me forever to figure out what they were on about. They were the women that had the perfect education, then the perfect career, then the perfect home, then the perfect husband and then the "holy cow, if I don't have a baby I can't have it all!" They were also the moms that actually ironed their childrens socks. Nothing against the IVF crowd, but what a different breed of moms they are.

Anyway, back to the DS discussion, it would be pointless to pre-test parents for a genetic predisposition towards DS because even with a predisposition, parents could still have a child with the correct number of chromosomes.

The amnio has some pretty serious side effects; one of them being miscarriage, so the fact that new tests are available is a good thing. It doesn't change the fact that (this is my opinion) all pregnant parents consider the possibility that something may do wrong and debate the choices. I had an amnio with my last child because the dad was worried, but I wouldn't have terminted the pregancy no matter what. The amnio almost terminated the pregnancy.
 

Kreskin

Doctor of Thinkology
Feb 23, 2006
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They aren't new tests, they're new recommendations. They were previously recommended for 35 years + only. Sorry to hear of the amnio experience. It's pretty tense watching the needle near the fetus. Generally there's a 1 in 200 chance of miscarriage.
 

selfactivated

Time Out
Apr 11, 2006
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I have a cousin Randy. He's Downs, hes my age 43 and he's amazing. When he was born they said he wouldnt make a year and here he's out lasted my Aunt. Randy has more love more spirit than anyone I know. Im honoured he is in my life and even if Aunt Betty knew he was what he was I think she would have opted for him.
 

Ariadne

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Aug 7, 2006
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They aren't new tests, they're new recommendations. They were previously recommended for 35 years + only. Sorry to hear of the amnio experience. It's pretty tense watching the needle near the fetus. Generally there's a 1 in 200 chance of miscarriage.

11 years ago, the only choice was an amniocentises but now: "Tests far less invasive than the long-used amniocentises are now widely available, some that can tell in the first trimester the risk of a fetus having Down syndrome or other chromosomal defects.
It's a change that promises to decrease unnecessary amnios -- giving mothers-to-be peace of mind without the ordeal -- while also detecting Down syndrome in moms who otherwise would have gone unchecked."
http://us.cnn.com/2007/HEALTH/01/01/down.syndrome.ap/index.html

I understood that in addition to being recommended for women regardless of age, there have been developments in test methods that do not involve the amnio.

That 10 inch needle is pretty ugly and they suck an awful lot of fluid out ... my obgyn told the guy to stop because he'd taken enough ... risk of nicking the baby is pretty high and cramping or bleeding afterwards is high. It's a dangerous and unnecessary procedure that, in my opinion, is used too often. I was in the high risk group when I had it done, but it wasn't anything I wanted.
 
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Ariadne

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Aug 7, 2006
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I have a cousin Randy. He's Downs, hes my age 43 and he's amazing. When he was born they said he wouldnt make a year and here he's out lasted my Aunt. Randy has more love more spirit than anyone I know. Im honoured he is in my life and even if Aunt Betty knew he was what he was I think she would have opted for him.

One of my colleagues, a 29 year old guy with a younger wife, had just had a baby and, being me, I always called my new babies little monkeys. I asked my colleague how his little monkey was doing and he looked shocked and horrified. Hmmmm, I learned a couple of months later that their child had DS. I am soooooooo good at putting my foot in my mouth sometimes! His little monkey had the usual, serious heart problems but is otherwise a happy little guy.
 

Kreskin

Doctor of Thinkology
Feb 23, 2006
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11 years ago, the only choice was an amniocentises but now: "Tests far less invasive than the long-used amniocentises are now widely available, some that can tell in the first trimester the risk of a fetus having Down syndrome or other chromosomal defects.
It's a change that promises to decrease unnecessary amnios -- giving mothers-to-be peace of mind without the ordeal -- while also detecting Down syndrome in moms who otherwise would have gone unchecked."
http://us.cnn.com/2007/HEALTH/01/01/down.syndrome.ap/index.html

I understood that in addition to being recommended for women regardless of age, there have been developments in test methods that do not involve the amnio.

That 10 inch needle is pretty ugly and they suck an awful lot of fluid out ... my obgyn told the guy to stop because he'd taken enough ... risk of nicking the baby is pretty high and cramping or bleeding afterwards is high. It's a dangerous and unnecessary procedure that, in my opinion, is used too often. I was in the high risk group when I had it done, but it wasn't anything I wanted.
The nuchal translucency test has been around since the mid 90's but only recommended to 35+.
 

Ariadne

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Aug 7, 2006
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The nuchal translucency test has been around since the mid 90's but only recommended to 35+.

The NT test "NT is a screening test only and cannot determine with certainty if the fetus does or does not have Down syndrome, only if your risk seems to be high or low. ... If the screening indicates that your fetus is at an increased risk of Down syndrome, a genetic counselor or physician will discuss the specific risk. The counselor also will discuss further diagnostic testing available, including chorionic villus sampling (CVS) or amniocentesis."

The Amnio: "Amniocentesis detects most chromosomal disorders, such as Down syndrome, with a high degree of accuracy. ...There is a small risk of miscarriage as a result of amniocentesis — about 1 in 100 or less. "
http://www.ucsfhealth.org/childrens/medical_services/preg/prenatal/conditions/down/diagnosis.html

It doesn't sound like NT gives any conclusive information, requires intense ultrasound to the base of the neck (brain area) and requires an amnio for confirmation between 15 and 20 weeks anyway. I'm not sure I'd agree with routine medical procedures for all pregnant women ...

My son was born in 95 and there was no alternative to amnio here at that time. I read that NT was developed in England and introduced to the US about 10 years ago, so it was probably not yet used in Canada. It was my experience that women over 35 were told that they would have an amnio and I know it was pretty difficult to tell the doctor that their advice would be ignored.
 
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Kreskin

Doctor of Thinkology
Feb 23, 2006
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The NT test "NT is a screening test only and cannot determine with certainty if the fetus does or does not have Down syndrome, only if your risk seems to be high or low. ... If the screening indicates that your fetus is at an increased risk of Down syndrome, a genetic counselor or physician will discuss the specific risk. The counselor also will discuss further diagnostic testing available, including chorionic villus sampling (CVS) or amniocentesis."

The Amnio: "Amniocentesis detects most chromosomal disorders, such as Down syndrome, with a high degree of accuracy. ...There is a small risk of miscarriage as a result of amniocentesis — about 1 in 100 or less. "
http://www.ucsfhealth.org/childrens/medical_services/preg/prenatal/conditions/down/diagnosis.html

It doesn't sound like NT gives any conclusive information, requires intense ultrasound to the base of the neck (brain area) and requires an amnio for confirmation between 15 and 20 weeks anyway. I'm not sure I'd agree with routine medical procedures for all pregnant women ...

My son was born in 95 and there was no alternative to amnio here at that time. I read that NT was developed in England and introduced to the US about 10 years ago, so it was probably not yet used in Canada. It was my experience that women over 35 were told that they would have an amnio and I know it was pretty difficult to tell the doctor that their advice would be ignored.

Anything I've read has about 1 in 100 for CVS and 1 in 200+ for amnio. The NT is not conclusive but can red flag the need for a closer look.
 

Ariadne

Council Member
Aug 7, 2006
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Anything I've read has about 1 in 100 for CVS and 1 in 200+ for amnio. The NT is not conclusive but can red flag the need for a closer look.

It's a move in the direction of selective birth rights, similar to the gender selection and subsequent abortion of primarily female children in many parts of the world. Every procedure, including ultrasound, can have a negative impact of the fetus and I see no reason why low risk healthy women with no family history of genetic diseases should be subjected to medical technology ... just because it's available and not because of any specific medical reason.
 

Kreskin

Doctor of Thinkology
Feb 23, 2006
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If a couple wants to know the situation before birth or look at other options with a chromosomally abnormal fetus that seems like a prudent thing. I suspect the College of OBGYN's has looked in the rearview mirror enough times to see the benefits of offering the tests.
 

Ariadne

Council Member
Aug 7, 2006
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If a couple wants to know the situation before birth or look at other options with a chromosomally abnormal fetus that seems like a prudent thing. I suspect the College of OBGYN's has looked in the rearview mirror enough times to see the benefits of offering the tests.

I can see advocating this test as more useful in the United States where there are so many lawsuits from parents that give birth to unhealthy children. I can also see it useful where there is a family genetic history of diseases and abnormalities, but if people are not going to abort or blame their doctor when a child has an abnormality, it's pointless.
 

Kreskin

Doctor of Thinkology
Feb 23, 2006
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If it makes no difference then don't take the NT test. If one would like to know either way for whatever reason prior to giving birth then take the test. No sense talking woulda coulda shoulda on birth day.
 

Ariadne

Council Member
Aug 7, 2006
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If it makes no difference then don't take the NT test. If one would like to know either way for whatever reason prior to giving birth then take the test. No sense talking woulda coulda shoulda on birth day.

Agreed, there's no sense, but if doctors are going to advocate this test for all pregnant women, women will be inclined to take it and, given that they are pregnant and a little more emotionally vulnerable, even if they are not in favour they will be easily coerced into having the test.

I think this is another way for researchers to gather data for stats. I absolutely do not think that the test should be recommended for all pregnant women in the same way that an ultrasound is now expected of all pregnant women. An ultrasound is often justified because it clarifies due dates ... suggesting that women are just not bright enough to know when they might have become pregnant. Ultrasounds are not necessary, but they are routine for all women irrespective of circumstances. What is being advocated is a deep ultrasound to the base of the neck to all fetuses at the delicate age of 11 - 13 weeks gestation. Dumb, is all I can say. Pounding sound waves at tiny little growing fetuses definitely is not to their advantage ... it only satisfies some existing person's curiousity; someone that was born before ultrasound was used.