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Showing posts with label Down's Syndrome. Show all posts
Showing posts with label Down's Syndrome. Show all posts

Friday, July 3, 2009

Fertility Method For Older Women Spawns Doubts

Friday, July 3, 2009
Fertility Method For Older Women Spawns DoubtsFor more than a decade, thousands of older women undergoing in-vitro fertilization have relied on an expensive embryo-screening procedure to boost their chances of getting pregnant. But mounting evidence suggests that the procedure doesn’t help people become mothers.

The technique, known as pre-implantation genetic screening, or PGS, is performed in dozens of fertility clinics across the country. Most medical experts agree that embryo screening can significantly reduce the risk of serious chromosome-related illnesses, such as Down syndrome. But for older women trying to have a baby, the weight of evidence is now shifting against current PGS techniques.

Read more:
http://online.wsj.com/article/SB10001424052970203366604574237912351241156.html?mod=googlenews_wsj


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Friday, April 11, 2008

Low Folate Diet Linked To Sperm Abnormality

Friday, April 11, 2008
Photo by www.action.org.ukLow Folate Diet Linked To Sperm Abnormality
The old adage "we are what we eat" received further support this week, and may even suggest "we are what our parents ate" when a new study by researchers in the US revealed that healthy men who have a diet low in folate have a higher risk of chromosomal abnormalities in their sperm. Chromosomal abnormalities in sperm are known to cause a range of congenital conditions such as Down syndrome and learning and development disorders.

The study is the work of scientists at the University of California (UC), Berkeley, and the Lawrence Berkeley National Laboratory, and is published in the 19th March issue of the journal Human Reproduction.

Women of childbearing age are encouraged to maintain a healthy intake of folate because it is essential for healthy fetal development, and to prevent neural tube birth defects such as spina bifida or anencephaly (severe type of brain damage). That is why folic acid is now added to bread, cereal, flour and other grain products in the US.

But this is the first study to suggest that folate intake in men may affect their children.

Researcher at UC Berkeley's School of Public Health and coordinator of the study, Suzanne Young, said:

"Recent studies have suggested that paternal diet affects sperm count and motility, which is important for conception, but this new study takes it further to say that male diet may be important for healthy offspring as well."

Young said their study was the first to examine the effects of diet on chromosomal abnormalities in sperm.

"These abnormalities would cause either miscarriages or children with genetic syndromes if the sperm fertilized an egg," explained Young.

The researchers said that about 1 to 4 per cent of healthy male sperm has an abnormal number of chromosomes, or aneuploidy. These abnormalities arise when cells divide (meiosis) in the testis, but their cause is not well understood.

If an aneuploidic sperm fertilizes a normal egg, the fetus would either miscarry or develop a chromosomal disorder, such as trisomy, where cells have three copies of each chromosome instead of the more usual two (one from each parent).

In this study the investigators looked at three chromosomes linked with common types of aneuploidy in live births: X, Y and chromosome 21. Down syndrome, for example, is caused by having an extra chromosome 21. Klinefelter syndrome, which can affect language and learning development, is caused by an extra X chromosome in boys, and boys carrying an extra Y chromosome have XYY syndrome, also linked to learning and behavioral difficulties.

The participants were 97 non-smoking men with no previous history of reproductive or fertility problems. The aged from 22 to 80 and were either still working at or had retired from a government research laboratory.

The men filled in questionnaires about their diet and supplements like multi-vitamins and other nutrients. Semen samples were taken up to a week later.

After taking out the effects of age, alcohol and medical history, the results showed that men who reported the highest folate intake had a 19 per cent lower rate of aneuploidic sperm that men with moderate folate intake, and 20 per cent lower than men with the lowest folate intake.

The analysis did not show any links between aneuploidy and other nutrients such as zinc, calcium, beta-carotene and other vitamins, said the researchers, who concluded that:

"Men with high folate intake had lower overall frequencies of several types of aneuploid sperm."

Co-principal investigator of the study, professor of epidemiology and maternal and child health at UC Berkeley's School of Public Health, Brenda Eskenazi, said:

""The emphasis related to the birth of a healthy baby has been weighted towards the health and diet of women, not just during pregnancy, but before."

"What we're finding now is that a nutritious diet, specifically folate intake, may be beneficial for men as well when it comes to producing healthy offspring," she added.

Folate, which occurs naturally in a range of foods such as liver, leafy green vegetables, peas, beans, lentils and citrus fruits, is a water soluble vitamin of the B group.

Folate is essential for DNA, RNA and protein synthesis and the development of new cells. It also helps to control homocysteine, an amino acid that has been linked to heart disease.

But before men hoping to become dads rush out to buy folic acid or start maxing out on lentils, they should take note, as the researchers themselves suggested, that this study only found a link between folate and healthy sperm, it did not establish for certain that there is a cause and effect relationship.

Study co-principal investigator and chair of the Radiation Biosciences Department at Lawrence Berkeley National Laboratory, Andrew Wyrobek, cautioned:

"We can't yet say that increasing folate in your diet will lead to healthier sperm."

"But we did come up with enough evidence to justify a larger, clinical and pharmacological trial in men to examine the causal relationships between dietary folate levels and chromosomal abnormalities in their sperm,"
added Wyrobek.

This information will help us set dietary folate levels that may reduce the risk of miscarriage or birth defects linked to the fathers," he said.

If further research supports these findings, the researchers suggest it might be a good idea to increase the current recommended 400 micrograms daily allowance of folate for men hoping to become dads.

"The association of folate, zinc and antioxidant intake with sperm aneuploidy in healthy non-smoking men."


Hum. Reprod. Advance Access published on March 19, 2008.
DOI:10.1093/humrep/den036

Click here for Abstract.

Sources: Journal abstract, press statement from University of California, Berkeley.
http://www.medicalnewstoday.com/articles/101208.php


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Wednesday, April 2, 2008

Despite physical toll, more over-40 women having babies

Wednesday, April 2, 2008
Kim Cabral of Brewster thought she was in early menopause. Instead, she found out she was pregnant.

In April 2006, Cabral gave birth to her third child, William, at age 45. During the pregnancy, she was "shocked and scared," so convinced was she that at her age the baby would be born with birth defects. She also discovered that childbearing is a different story after 40.

"I was preparing myself for (birth defects) by talking to friends and doing research," says Cabral. "I can tell you that having a child in my 20s, 30s and 40s had extreme differences each time."

Cabral is hardly alone in learning that lesson. On March 16, Oscar-winning actress Halle Berry, 41, gave birth to her first child, a girl. The number of U.S.-born women ages 40 to 44 giving birth has tripled since 1982, according to a recently published report from the Public Policy Institute of California. The numbers rose during that period from 3.5 to 10.5 births per 1,000 women.

Sally Goldberg, a parenting specialist and author of "Constructive Parenting" (Allyn & Bacon, 2001), points to an "increasingly complex society" for those escalating figures, with women getting married later and waiting longer to have children.

"A major reason for waiting longer is getting their careers under way. Another is the rise in infertility," she says. "It takes a while to determine that infertility is a factor and then even more time to treat it. A third reason is finances. It costs a lot to raise a child, and many couples need the time to save up for the responsibility."

But women have so many responsibilities these days that having young children can be especially stressful for women in their 40s.

Besides full-time jobs outside the home, Goldberg says, "Moms also have the mom-full-time job — basically 40 hours of work plus the additional 24/7 responsibility." Many moms are also students, full time or part time, plus "we all know it takes hours of work to take care of a home, and hours of work to love, honor and cherish a mate." Mom care — the hairdresser, clothes shopping, doctor visits, etc. — "all take time, so the list goes on."

Different decades

In her 20s, Cabral had had tons of energy, bodysurfing waves off Wellfleet the day her water broke with the first baby. And it was a good thing she had that energy.

"My son Rob was and still is my most active child. He could do a running flip from the ground at 3," she says. "I was also very socially active and took Rob to a lot of (political) demonstrations."

While carrying her second child at age 33, Cabral was "thrilled." As director of Kit Anderson House shelter in Hyannis, she worked until three days before her due date.

"I gave Rob a birthday party at an arcade — and that night, delivered Autumn. She was born in less than three hours, and Rob and Autumn have the same birth date! But I was so exhausted being a working mom, I didn't get to enjoy her babyhood like I wanted."

Time went on, and Cabral became a preschool teacher. Life changed when she started feeling strange.

"I figured out I was pregnant with William by the second month because my period hadn't come and I was tired and dizzy all the time," she says. "With William, it was entirely different from the beginning, mostly from the fatigue factor and I had morning sickness from the second month throughout the rest of the pregnancy. ... Then I had an ultrasound — and there he was — it looked like his hand was waving."

Cabral's doctors immediately let her know she had beaten the odds: There is only a 7 percent chance that a woman in her 40's can conceive naturally. Most women that age conceive through artificial insemination or donor eggs. There were also warnings.

"The OB-GYN laid it down for me," she explains. "At this age there was a huge risk factor. Down syndrome is the biggest risk for women in their 40s." In addition, the risk of miscarriage increases with age.

So it should come as no shock that this most recent pregnancy was hard for Cabral.

"I left my job two months early. I was so exhausted I just knew I couldn't do both."

Benefits, too

Being an at-home mom has been a different experience. Cabral acknowledges, "I felt isolated at first, but as William grew, we joined baby yoga and play groups. It's true I don't meet many women my age that are mothers, but that's OK. I have to also say this time around is very tiring, but I love every minute."

Stacey Horton, 43, of South Yarmouth is the mom of Will, 6, and Olivia, 3. She agrees with Cabral.

"Universally, our children are a gift," she says. "They bring us joy and teach us our most valuable lessons. They allow us to stay youthful and express our heart's desires."

There are definite benefits to having a baby later in life. The chief one that Cindy Horgan, family support coordinator at Cape Cod Children's Place in Eastham and co-creator of its parenting station, sees is that women over 40 "have a good sense of who they are and tend to be focused on guiding a young child because they aren't focusing on their own identities."

But, like Cabral, Horton feels having young children later in life can be challenging:

"My energy level is not what it used to be, and my stress level has begun to soar. Although our children get along very well, there are typical sibling rivalry issues. These can be extremely challenging, especially being someone who doesn't handle conflict very well. Again, a lesson for me."

Since Will had been born three months prematurely, her second birth was meticulously monitored.

Fortunately, Horton says, "Other than the typical three months of nausea, my pregnancy was fairly easy. Our daughter was born three weeks early, which was perfect for me."

Advances in medicine that allow that monitoring have helped more women conceive after age 40 and stay healthy during those later-in-life pregnancies. While there are more risks for that age group now, the risks were even greater a generation or two ago.

Taking a chance

One mother of six — who did not want her name used, but is affectionately called "Mama Jean" by friends and family — had her sixth child at age 41, in 1964.

"I was lucky to have six kids without any problems back then, especially since my blood was RH negative, which could cause health problems to the baby," she says. "I only stopped having children at 41 because the doctor told me I'd be taking a chance at my age to have more."

Back then, Mama Jean shares, "I would have kept having children if I'd been younger."

But nowadays, with priority on education and career before kids, women are willing to wait to give birth. And Cabral offers encouraging words:

"Doctors use new ultrasounds now that trace every physical aspect of the baby to determine the baby's health. So they know early on of any serious developmental and/or physical delays."

Using these new techniques, Cabral was given an ultrasound when she was less than four months pregnant, and then another when she was seven months along. She went through a variety of other medical monitoring, including a stress test, and doctors finally decided to induce labor to encourage the birth. William was a healthy, 9.4-pound baby.

More risks, more stress, more physical challenges — yet over-40 moms say the prize of the tiny life is worth it.

"My daughter has brought me such joy from the moment she was born," Horton says. "Although having one child would have been more manageable, I can't imagine our lives without my daughter. She is a beacon of light and a great sibling."

Cabral agrees. She marvels: "Each child is special, but when you're older, you cherish each little thing. My husband and I were at the playground the other day and he said, 'What would we be doing now without William?' I answered, 'We'd be home watching TV.'"

Source: http://www.capecodonline.com/apps/pbcs.dll/article?AID=/20080330/LIFE/803300305/-1/NEWS

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Monday, March 10, 2008

UK trial for IVF womb technique

Monday, March 10, 2008
Photo by http://news.bbc.co.uk UK trial for IVF womb technique - Could the womb produce better quality embryos than the test-tube?
An IVF technique which lets eggs develop in the womb rather than the test-tube straight after fertilisation is to be trialled in the UK.

Researchers hope that the natural environment of the womb will help produce stronger embryos.

At present, an embryo is transferred to the womb after a few days growing in special liquid in a laboratory.

But this new technique would see fertilised eggs placed in a device which is then planted in the womb.

After a few days the device is taken out and the embryo deemed to have the best chances of survival reimplanted.

Initial, anecdotal evidence from pilots in Belgium suggests the embryos produced in vivo rather than in vitro are of a higher quality - and therefore have a better chance of survival.

In addition to establishing whether the technique improves the chances of pregnancy, researchers are also keen to find out whether these embryos have fewer chromosomal abnormalities - which can lead to conditions such as Down's Syndrome.

"We have often wondered whether the rate of abnormality is higher with in vitro embryos, but we have never been able to establish this," says Dr Simon Fishel, head of the Care Fertility group of clinics which is carrying out the study.

"Hopefully this trial will at least provide a partial answer."

Multiple births

The group is recruiting 40 women under the age of 37 to take part in the trial, which will be carried out in Nottingham.

There is currently intense interest in developing new techniques which produce better quality embryos, and thus minimise the need for several embryos to be transferred to the womb in the hope that one will survive.

This technique is producing large numbers of multiple births, which can put the lives of both mother and baby at risk.

Reproductive specialists were cautious about the trial.

"It's an interesting idea, but it's not entirely clear what they are trying to do," says Professor Adam Balen of the British Fertility Society.

"Even in natural conceptions the eggs do not spend those first days in the womb, but in the fallopian tubes.

"I'd like to see a bit more science before I got too excited about this."

Richard Kennedy of the Centre for Reproductive Medicine in Coventry agreed.

"Of course the more you can circumvent artificial systems the better, but one of my concerns about this would be that you have to put it in, remove it, before then putting it in again. "

Care Fertility says it hopes to have an initial results by May or June, and a clearer picture of how successful the technique is by the end of year.

VIDEO AND AUDIO NEWS



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Friday, September 21, 2007

Podcast: Pregnancy after age 35

Friday, September 21, 2007
Questions Asked During the Podcast:

* I’ve read that pregnancies in women over-35 and over-40 are a lot more common than even 10 or 20 years ago. Is this true, and if so, how fast is this trend growing?
* Do older women have a greater risk of miscarriage?
* How can I increase my chances of delivering a healthy baby even though I’m older?
* Which prenatal tests should I have if I’m over 35?
* I’m in my 30s now, but not yet ready to have a baby. What can I do now to help my chances of conceiving in the future?
* Is there a correlation between older pregnant moms and multiples?
* What medical conditions are more prevalent in older pregnant moms?
* Are older mothers more likely to have to have C-sections than younger mothers?
* Is post-partum depression any more or less prevalent in older mothers than in younger mothers?
* Have any studies been done to look at long-term outcomes for children born to older mothers? How, if at all, does it impact their emotional development, their educational development, etc.
* Have we reached the biological limits of maternal age, or do you think new advances will make it possible to have kids even later in life than we’re now seeing?
* I know that Downs Syndrome becomes more likely the older the mother. Is the same true for congenital heart defects? What are some other fetal disorders that become more likely as a mother’s age increases?

Listen to the pregnancy podcast.

Source: http://www.revolutionhealth.com/healthy-living/pregnancy/experts/podcasts?msc=A62846

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Thursday, September 20, 2007

Baby scans: do we need them?

Thursday, September 20, 2007
For many women, the scan which shows their unborn squirming, kicking and sucking its thumb is one of the important milestones of pregnancy.

For the vast majority it provides reassurance that all is well, and it enables parents to prepare if all is not.

But an eminent ultrasound specialist is determined to kickstart a debate on the value of the scan within an NHS increasingly strapped for cash.

In a paper published in Ultrasounds this week, retired Dr Hylton Meire not only argues there is no scientific evidence to prove the 20-week scan is worthwhile, he also casts doubt on the reliability of the principal method of testing for Down's Syndrome - the nuchal fold measurement.

These tests do not give a yes or no answer to whether a baby has Down's, but an indication of risk. Those deemed to have a higher possibility are offered an amniocentesis, where a needle is inserted into the womb to give a much more accurate analysis.

Every amniocentesis carries a small risk of miscarriage, so women who are not carrying a disabled foetus in the first place can end up losing a perfectly healthy baby.

Using various figures, Dr Meire, formerly of King's College Hospital, calculates that as many as 3,200 healthy babies are lost in this way each year.

For every 50 live births of children with Down's Syndrome prevented, he says 160 women miscarry non-affected babies.

'Muddled measurements'

Dr Meire has reservations about aborting babies with Down's Syndrome in the first place, and admits this forms part of his hostility to testing for the condition.

The nuchal fold test involves measuring the fluid at the back of the neck of an 11-13 week old foetus.

Babies with abnormalities tend to accumulate more fluid at the back of their neck during the first three months after conception, causing this clear space to be larger than average.

Age of the mother is one of the factors taken into account when risk is being calculated, and many hospitals also carry out blood tests to give an even more accurate picture.

Low risk is a result where the chances of having a baby with Down's syndrome is less than one in 800, while high risk is anything greater than one in 300.

Dr Meire argues that blood tests notwithstanding, the test is hugely problematic because of the difficulties of measuring anything accurately on a blurry ultrasound screen.

"Women are being referred on to amniocentesis on the basis of a very flimsy test," he says.

"And I think they need to understand just how inaccurate it can be."

Jane Fisher from Antenatal Results and Choices (ARC) says Dr Meire does have a point, but that most parents are all too aware the test is fallible.

Weighing up the various risks - a one in 200 chance of carrying a child with Down's syndrome against a one in 200 chance of miscarrying after an amniocentesis - is an immensely difficult decision.

"The problem is Dr Meire wants absolutes," she says.

"The technology isn't there to provide that yet, and in the absence of it, we have to make do with what there is. But of course counselling is important, and a proper discussion about what the risks are."

Spending money

In any event, ARC stresses that screening now means fewer older mothers have an amniocentesis as a matter of course, as was the case all the way up until 2001 when the scans became available nationally.

The test is offered in around three quarters of hospitals, but not necessarily to all women. Older women are at greater risk of having a child with Down's Syndrome, and some hospitals only screen those over the age of 35 or even 38.

But the vast majority of women in the UK - 95% - are offered the 20 week anomaly scans which Dr Meire also targets in his paper.

Costing between £25 and £50 a go, the specialist says there is no evidence to prove they are worth the money.

"There's no data that shows - in regard to children living or dying or succumbing to serious illness - that these scans have any effect in population terms. No-one has been able to prove otherwise," he says.

"We need to really think about why we do these, and the money we spend on them, and ask ourselves if it's really worthwhile."

Conditions detected at 20 weeks include serious problems such as heart defects, as well as more minor conditions like cleft palate.

Obstetrics consultant Patrick O'Brien says it is very important to know in advance if a child has heart defects, as it means preparations can be made for delivery in a specialist unit if need be.

But he concedes that viewed at the level of pure statistics, it is possible to argue that scans only benefit a small minority of people. Often parents learn information which they do not necessarily need to know before the birth.

But while finding out a child is to be born with a cleft palate may not be necessity, learning through a scan means parents can be prepared for what can be a huge shock at delivery.

"They are shown pictures of what can be done and understand how easy it is to treat," says Mr O'Brien.

"I certainly wouldn't want to go back to the pre-scan days when horrified parents simply shunned the child when it was born."

"But sometimes you've also got to look at things from an individual perspective, and what it means for the parents.

"Maybe the pure joy of parents seeing their unborn child is something that's worth paying for."

Source: http://news.bbc.co.uk/1/hi/health/6948015.stm

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Friday, June 22, 2007

A Baby at 40? (The Life Issues Institute, Inc.)

Friday, June 22, 2007
There's a lot of so-called conventional wisdom out there today that would discourage any woman over 40 from getting pregnant and having a child. Some of this centers around the fact that that couple would have a very slightly higher chance of having a baby with Down Syndrome or mongolism. Few know, however, that three-fourths of all children born with Down Syndrome are born to women who are under 35 years old. Well, let's look -- what are the odds if you are over 35?

Well, first let's take a woman who's under 35. What is the chance of her having a normal child without Down's? Well, it's 999 times out of 1,000. Now let's take a woman who's 40 years old. What are her chances for a normal baby? 990 out of 1,000. Clearly, those odds should be very reassuring if someone's around 40 years of age and does want another child.

Let's turn the page and ask another question. What about physical complications to the woman who's pregnant after 40? Well, actually, there are very few complications if she has kept herself in good general condition. And that, of course, would be true at any age.

I recall a major clinical report in the journal Obstetrics and Gynecology entitled "Pregnancy After Forty Years of Age" by Dr. Spellacy and colleagues. They did a very large study... 511 pregnancies in women over age 40 out of a total of 40,000 women.


They studied them, compared the delivery outcome of the women over 40 with those who were between the ages of 20 and 30. And about the only major problem they turned up was being overweight. Those older women who were overweight had more high blood pressure, more diabetes, more placenta praevia, that is, the afterbirth coming out in front of the baby. They also had bigger babies, and, interestingly enough, more males, and, sadly, more babies born dead.

But for those women of normal weight, however, who were over 40, there was no difference in high blood pressure, no increase in large babies, no increase in fetal death rate, no more distress at delivery. Women of normal weight over 40 did have a little more diabetes and had a few more Caesarean sections. But their infant outcome was no different from that of the younger women.

So the conclusion of the study was that women who are over 40, who are of normal weight, if managed by modern obstetric standards, can expect a good pregnancy outcome and have no more fetal complications than younger women.



There was one other factor that was statistically significant - not greatly so - and that was that, if she had had many babies, was what we call a "grand multipara", then there was a very slightly increased chance of problems for both. But the bottom line was that there is very little additional risk to mother and baby for a woman pregnant over 40, outside of the major risk factor of obesity.

So if you're 40, and you want a baby, go ahead -- the odds are heavily with you, but you better watch your weight.

[07/18/96]

Source:
http://www.lifeissues.org/radio/r1996/lr1314.html

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Monday, January 1, 2007

Can what a doctor says influence how a woman chooses?

Monday, January 1, 2007
Earlier this year, Brian Skotko, a student at Harvard Medical School, published papers in two academic journals, based on a survey of more than 1,000 mothers. The survey asked an unusual question: How were they told that their child had Down syndrome?

One woman said that after her baby was born in 2000, "the doctor flat out told my husband that this could have been prevented ... at an earlier stage." Of 141 women who learned through prenatal testing, many said they felt urged to terminate the pregnancies. One said that after learning her amniocentesis results, the doctor told her "our child would never be able to read, write or count change."

Mr. Skotko, whose sister has Down syndrome, saw his project swept up in a complicated debate over the termination of fetuses diagnosed with disabilities. It raised a provocative question: Can what a doctor says influence how a woman chooses?

Full article: http://www.post-gazette.com/pg/05276/581982.stm

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Sunday, December 31, 2006

All pregnant women should get Down syndrome test

Sunday, December 31, 2006
WASHINGTON (AP) — 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.

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."

Full article:
http://www.usatoday.com/news/health/2006-12-31-down-syndrome_x.htm?csp=34

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