Down Syndrome Testing for Pregnant Women

[Guest guest]

Hello everyone

I recently seen this story on yahoo and wanted to share it in case some did

not see it. Hope everyone had a nice holiday & happy new year. Take care.

Tina Swann

(bonnie 14 connor 10 ADHD/learning disabilities kristina 5 MDS/ADHD/kidney

reflux)

Group recommends Down syndrome testing

By LAURAN NEERGAARD, AP Medical WriterSun Dec 31, 7:43 AM ET

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. 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. 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.

__________________________________________________

[Guest guest]

Hi all,

i had the nuchal translucency test and the blood test and neither of those

test picked up that lily was at a higher risk for ds..I live in australia

and they were offered to me and i was only 25 at the time of my pregnancy

with Lil.. They say they cant tell you for sure but they say they can give

you % and i wasnt at a hgih risk..i guess because of her mds thats why it

wasnt picked up.. Just thought i would share that.

Hope everyone had a great holiday period..

(Kadeem 13, Zakariyaa 11 undiagnosed dev delay..severly disabled, Shakirah

9, Yasmin dec, Lily 5 1/2 mds)

>

>Reply-To: MosaicDS

>To: mosaicds

>Subject: Down Syndrome Testing for Pregnant Women

>Date: Tue, 2 Jan 2007 06:40:06 -0800 (PST)

>

>Hello everyone

> I recently seen this story on yahoo and wanted to share it in case some

>did not see it. Hope everyone had a nice holiday & happy new year. Take

>care.

>

> Tina Swann

> (bonnie 14 connor 10 ADHD/learning disabilities kristina 5

>MDS/ADHD/kidney reflux)

>

> Group recommends Down syndrome testing

> By LAURAN NEERGAARD, AP Medical WriterSun Dec 31, 7:43 AM ET

>

>

> 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. 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. 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.

>

>

>

> __________________________________________________

>