Physical Defects Less Likely In Babies Born To Women Over Age 35; Down Sydrome Still Common

by Matthew Mientka from Medical Daily:

Women ages 35 and older give birth to more babies with Down syndrome but fewer with physical defects, new research shows.

Science has long known that women of “advanced maternal age” experience greater risk of bearing a child with a chromosomal abnormality, such as Down syndrome. However, not much has been written on the risk of congenital defects, which may affect the heart, brain, kidney, bones, gastrointestinal tract, and other aspects of the body’s basic composition.

In a new study, investigators at Washington University in St. Louis analyzed obstetric and ultrasound data from more than 76,000 women receiving second trimester ultrasounds as part of their routine neonatal care. Aside from considering the mother’s age, they also looked at the severity of such malformations, categorizing them by organ system, including heart, brain, and kidney.

Journalist admits she would seriously consider aborting an IVF baby with Down syndrome

from Daily Mail by Toni Jones:
41-year-old Samantha Brick is desperate for a child.
Having tried to conceive naturally without success for four years her and her husband embarked on their first round of IVF treatment earlier this year.
The gruelling process has a very small chance of working for women over the age of 40.
Yet today the journalist told This Morning that if she does manage to conceive and then learns that the baby has Down's Syndrome she would seriously consider aborting it.

Despite spending thousands of pounds on trying to conceive many women are deciding to abort babies after learning that they will be born with the genetic condition, leading some anti-abortion campaigners to claim that they are treating babies like designer goods.
Is it right to choose the option of a termination after under-going such an emotional and physical treatment?
Samantha believes that it is totally justifiable.
She said:
'My husband and I have been trying for a baby for four years. It is not easy, all around me friends are conceiving and building up their families.
'Every month you hope for the miracle baby, and when that doesn't happen you just keep going and keep going.
'My firs attempt at IVF failed and my husband I have discussed in depth and at length whether we could keep a baby diagnosed with Down's Syndrome.
'I live in France,I know that people there don't have the same support, I would have to send my baby to a centre on Monday morning and then welcome them back on Friday night.
'I already have a large family including ageing in laws with their own problems and so it's not just myself that I have to think about it's everyone else in the  family and what that imapct would have on them.'

Samantha also raisd the issue of being an older parent to a Down's Syndrome child.
She says: 'I'm 41 now. What will happen to that child with Down's Syndrome if anything happens to me?
'I'm not just having a glass of wine and deciding to terminate a baby.
It's a huge decision and one I wouldn't take lightly at all.
'I actually think it would be selfish to HAVE that baby because of the impact on the local health services, the cost of raising that chlid and the support it would need.'
Also on the sofa was weather girl Claire Nasir, 42, who was told after conceiving through IVF that the chance of her having a Down's Syndrome baby was 1 in 20, but decided to go ahead with her pregnancy and has since had a healthy baby without the condition.
Claire said: 'When the doctors told us that there's a very high risk of Down's Syndrome - one in 20 - I was absolutely shocked.
'My reality changed, I went from the joy of being pregnant after so many years to having to have a tricky conversation with my husband about what we should do. 
'But I had produced this beautiful little feotus and was going to love the baby whatever.
'I went in to having IVF and getting pregnant with my eyes open to any consequences I would have to face.
'I don't think I have any right as a human being to choose that - I'm just lucky to have a miracle in the first place.'

As a journalist, Samantha has spent four years researching the risks while she has been trying to get pregnant, she says: ''50-70 per cent of couples who have a child with a disability end up spitting up.
'I want to have a child with my husband because I love him, I'm really happily married and I can't forget him as a factor
'I would love to have a child but he has a right in this argument too.
'I would hate to end up as that statistic.'
Talking exclusively to the MailOnline after the interview Samantha said: 'I absolutely stand by my comments and the position I took today. Far from being selfish, I believe I'm being selfless in putting the needs and wishes of those around me above my desire to be a mum.
'Its important to honestly debate such a difficult issues especial as 9 in 10 women will terminate such a pregnancy.
'My family and I have between us worked with hundreds of people with Downs Syndrome. Let's stop 'Disneyfying' this genetic condition and ensure families, and potential parents, can debate and discuss and have the full unbiased facts of exactly what they're getting into.'

Video: Samantha and Claire debate the issue on This Morning. Watch the full interview here.

http://www.dailymail.co.uk/femail/article-2178789/Samantha-Brick-Journalist-admits-seriously-consider-aborting-IVF-baby-Downs-Syndrome.html

Why So Many Babies Are Still Being Born With Down Syndrome

from The Atlantic by Adam Wolfberg:
As prenatal tests improve, more and more women are finding out if their fetus has an extra chromosome, but they're still carrying to term

Prenatal diagnosis -- the ability to diagnose abnormalities before a baby is born -- is undergoing a revolution due to the recent arrival of tests that can accurately detect fetal genetic abnormalities, including Down syndrome, by testing the mother's blood. For the past 30 years, obstetricians like me have used the mother's age, ultrasound markers, and levels of certain blood chemicals to guess whether a fetus might have Down syndrome, or other genetic abnormalities. But it took an invasive test -- an amniocentesis or a chorionic villus sampling -- to be certain, and these tests occasionally caused miscarriage. It was an inexact guessing game that was extremely difficult to explain to patients.

There are a host of reasons why patients and doctors want to know in advance whether a child will be affected by a large number of genetic diseases, but by far the most common concern patients have is whether their baby will have Down syndrome -- a condition in which the child has an extra copy of chromosome 21 and will have cognitive impairment and be at risk for other abnormalities, from heart defects to leukemia to early dementia.

The number of babies born every year affected with Down syndrome has increased slightly in the United States to about 6,000 annually.

But there are really only two reasons why parents undergo testing to determine whether their baby will have Down syndrome: to prepare to raise a child with special needs, or to terminate the pregnancy. (Those of you who hold strong 'pro-choice' or 'pro-life' views are getting your hackles up, I know. So I'm going to go ahead and apologize in advance for ignoring your agendas entirely in this post.)

The number of babies born in the United States each year affected with Down syndrome is the result of several factors, including the number of fetuses conceived that carry the third copy of chromosome 21 (older mothers are more likely to conceive Down syndrome-affected fetuses, and the childbearing population in the United States is aging), the percentage of pregnant mothers who choose to test for Down syndrome, and the percentage of women who learn they are carrying a fetus affected with Down syndrome who choose to terminate. Fetuses affected with Down syndrome are more likely to miscarry than normal fetuses, but this hasn't changed over time.

Interestingly, the number of babies born every year affected with Down syndrome has increased slightly in the United States to about 6,000 annually according to the Centers for Disease Control (CDC), even as the trends I just mentioned have swung dramatically.

A recent article in Prenatal Diagnosis provides the best glimpse into the choices women made about abortion for Down syndrome over the past couple of decades, and the authors' conclusions are that fewer women who learn their fetus has Down syndrome are opting to terminate their pregnancy, and the percentage has probably declined over time to someplace between 60 and 90 percent. The conventional wisdom, based on a paper in the same journal from 1999, was that over 90 percent of Down syndrome-affected pregnancies were terminated, although the current paper casts doubt that the percentage was ever that high.

So what's going on? If the abortion rate is declining, why isn't the number of babies born with Down syndrome rapidly increasing? Several factors are at play:

• The number of babies born to Hispanic women is increasing, and Hispanic women are least likely to terminate a fetus affected with Down syndrome.
• It used to be that women had to make a conscious decision to have the test for Down syndrome, and the women who chose to be tested were probably more likely to terminate if the series of tests was positive. Due to guidance from the American College of Obstetricians and Gynecologists, more and more women are getting tested for Down syndrome, perhaps including more women who don't terminate their pregnancy when the test comes back positive.
• However, since women who don't get the Down syndrome tests can't terminate for this reason (because they never find out their fetus is affected), and more women are being tested, the overall number of terminations for Down syndrome may have increased.

Perhaps the most important factor is a sea change in society's approach to individuals with Down syndrome. Explains lead author of the recent paper, Jaime L. Natoli, a senior consultant in the department of clinical analysis at the Southern California Permanente Medical Group, in response to emailed questions: "Families have significantly more educational, social, and financial support than they had in the past. For example, from a social standpoint, women of childbearing age are from perhaps the first generation who grew up in an era where individuals with Down syndrome were in their schools or daycare centers -- perhaps not the mainstream integration that we see today, but still a level of exposure that was very different than in generations prior. They grew up watching kids with Down syndrome on Sesame Street."

What will the impact of these new tests be on the number of babies born with Down syndrome, since it is now easier to make a diagnosis without risking miscarriage? Says Natoli, "I cannot predict if the termination rate will go up, down, or stay the same. A lot of people think it will go up, but I wouldn't be surprised at all if it went down."

My guess is that new tests will have little impact. They are much easier to understand than the old ones, and eventually insurance companies will pay for them for most women. I suspect that in 10 years most women carrying a fetus affected with Down syndrome will receive a diagnosis early in their pregnancy. This will mean that more women will have to make the gut-wrenching decision about whether to continue the pregnancy or abort. And I predict that the number of babies born affected with Down syndrome will stay about the same.

BPA could increase risk of Down syndrome

from EurekAlert:

BPA alters development of in vitro ova and could increase risk of Down syndrome./

Bisphenol A is omnipresent in the plastic of common products such as beverage bottles, cans or baby bottles.

Researchers at Universitat Autònoma de Barcelona, in collaboration with the Vall d'Hebron Hospital Fetal Tissue Bank, the Department of Gynaecology and the Research Unit of Paediatric Endocrinology, analysed the effects of Bisphenol A (BPA), a polymer widely used to manufacture plastics, in an in vitro culture of ovaries. The research demonstrated that exposure to this substance gravely altered the development of oocytes and future ova, possibly diminishing the fertility of a woman's offspring and at the same time increasing the risk of Down Syndrome in following generations.


The research, published in Human Reproduction, was carried out with a culture of 21,570 in vitro oocytes. Results demonstrated that exposure to Bisphenol A in concentration levels permitted by health authorities is harmful to the fetus. BPA reduces the number of oocytes (cells which develop into ova) and therefore can affect negatively a woman's fertility and double the risk of chromosome exchange during the cell division process. Specific observations of chromosome 21 in the development of 90 oocytes revealed that exposure to BPA could increase the risk of Down Syndrome in the future offspring of the fetus.


The research provides conclusive data for the debate on how BPA affects the health of individuals. Previous studies on mice and worms demonstrated that reproduction is affected and that exposure to BPA during gestation affects the viability and quality of the cells which later become ova developing in the fetus.


For the first time, human cells were used in a research to analyse the process of cell division of the oocytes - meiosis - in which chromosomes join and exchange material, i.e. meiotic recombination.


Oocytes were cultured for 7, 14 or 21 days in different environments, with the presence of BPA and in control cultures without the substance. Data obtained in vitro with human cells was practically identical to that obtained with in vivo animal models, while the effects on meiotic recombination, which could lead to the appearance of Down Syndrome, in humans are even greater than those observed in mice.


"According to our results, BPA does not directly affect the fertility of pregnant women, but that of their daughters and granddaughters. It is a multigenerational effect", explains UAB professor Montserrat Garcia Caldés, director of the research. She goes on to say that "the increase in oocyte mortality in the fetus could diminish ovarian reserve numbers and the quality of the future mother's ova. At the same time, alterations in the recombination of chromosomes in the process of cell division increase the possibility of numerical alterations, such as monosomy (only copy of a chromosome in embryo cells) or trisomy (three copies)."


Concentration levels applied in the experiments were within the safety limits marked by European (EFSA) and US (EPA) authorities. The research therefore suggests that staying within legal limits does not imply that exposure to the substance is innocuous.


"We are exposed to BPA on a daily basis, mainly through oral exposure, since we can find it in lunch boxes, beverage bottles and food storage containers", Miguel Àngel Brieño-Enríquez reminds us. First author of the article, Brieño-Enríquez, from the University of San Luis Potosí, Mexico, is now researcher at the UAB Department of Cell Biology, Physiology and Immunology. According to him, "although we generally metabolise the substance, pregnant women retain more fluids and the fetus could be affected by high concentration levels."