WASHINGTON – Eleven days after her son Benjamin’s birth by C-section, Linda Coale awoke in the middle of the night in pain, one leg badly swollen. Just as her doctor returned her phone call asking what to do, she dropped dead from a blood clot.

Pregnancy-related deaths like Coale’s appear to have risen across the U.S. over the past decade, nearly tripling in the state with the most careful count – California. And while they’re very rare – about 550 a year out of four million births nationally – they’re nowhere near as rare as they should be. The maternal mortality rate is four times higher than a goal the federal government set for this year.

“It’s unacceptable,” says Dr. Mark Chassin of The Joint Commission, the agency that accredits U.S. hospitals and which recently issued an alert to hospitals to take steps to protect mothers-to-be. “Maybe as many as half of these are preventable.”

Two years after Coale’s death near Annapolis, Md., her sister says topping that list should be warning women about signs of an emergency, like the clot called deep vein thrombosis, or DVT, that can kill if it breaks out of the leg and moves to the lung.

“All she wanted to do was have her own family, and when she finally gets that privilege, she’s no longer with us,” says Clare Johnson, who says her sister’s only risk was being pregnant at age 35.

Maternal mortality gets little public attention in the U.S., aside from last year’s worry over the swine flu that killed at least 28 pregnant women. Among the leading preventable causes are hemorrhage, DVT-caused pulmonary emboli and uncontrolled blood pressure.

It’s not clear what’s fuelling the overall increase, although better counting is playing some role. But there are some suspects: A jump in cesarean deliveries that now account for almost a third of births. One in five pregnant women is obese, spurring high blood pressure and diabetes. More women are having babies in their late 30s and beyond.

“It can be a death here, a death there,” says Dr. Elliott Main of the California Maternal Quality Care Collaborative, whose research is helping to uncover the rise. “Any one doctor or any one hospital hasn’t really seen this change.”

When he shows the statistics at medical meetings, “everybody sits up.”

More startling, black women are at least three times more likely to die from pregnancy complications than white women, and research is too limited to tell why.

Then there are the near misses. For every death, 50 additional women suffer serious complications of pregnancy or delivery, notes Dr. Jeffrey King of the University of Louisville, a spokesman for the American College of Obstetricians and Gynecologists.

At issue are deaths directly related to pregnancy or childbirth, up to 42 days after delivery. In 2006, the latest year for which data were available, there were 13.3 maternal deaths for every 100,000 births. A decade ago, the rate hovered around seven – and by this year, the U.S. government had hoped to lower it to 3.3 deaths. California in 2006 charted 16.9 maternal deaths for every 100,000 births, up from a rate of 5.6 in 1996.

How pregnancy-related deaths are coded and counted changed during that time period, but Main says only about 30 per cent of the increase may be due to that.

At the request of California health officials, Main is finishing an in-depth study of maternal deaths that already has prompted a project to reduce hemorrhage in 30 of the state’s hospitals.

“Jumping on it early is very important,” says Main, who worries that hospitals can lose track of bleeding that happens a bit at a time until “before you know it, you’ve bled a lot.”

Among other safety steps:

-Seek early prenatal care to control underlying disorders and check for DVT risk. Pregnancy makes everyone’s blood clot more easily. At extra risk are women who have already had a clot or whose relatives have, who are obese or who have varicose veins, says Dr. Geno Merli of Thomas Jefferson University Hospital. They may need blood-thinning medication.

C-sections, like any major surgery, also add to the risk.

Andrea Darling of Skillman, N.J., suffered a DVT in her first trimester in 2002 and endured months of treatment and anxiety before her son was born healthy. Darling already was being treated for a genetic clotting disorder but says patient education helped her take extra steps to avoid a C-section.

-Hospitals should consider using compression boots on C-section patients, says King. They help keep blood from settling in the lower legs.

-C-sections can be lifesaving but women should understand how to reduce their chances of needing one – because next pregnancies tend to end in C-section, too, and repeat C-sections increase hemorrhage risk. Coming to the hospital before you’re properly dilated or seeking induction before the cervix is ready unnecessarily increases the C-section risk, Main says.

There often aren’t clear explanations for these deaths, and Maryland’s Clare Johnson tries not to wonder if anything could have saved her sister, because that’s impossible to know.

Still, she urges better education about DVT as the family watches her nephew Benjamin, now 2, grow.

“He is truly our blessing in all this,” Johnson says. “He’s truly what gets us through.”

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On the Net:

Data from California Maternal Quality Care Collaborative: http://www.cmqcc.org/maternal-mortality

MONTREAL – Toyota may be rapidly becoming a byword for corporate misadventure, but Canadian hospitals are not yet ready to slam the brakes on health-care initiatives inspired by the Japanese carmaker.

A handful of hospitals across the country have in recent years modelled new management practices after the fabled workplace culture fashioned by Toyota’s founder, Sakichi Toyoda.

The so-called Toyota Production System has spawned a cottage industry of sorts among management consultants eager to apply its focus on worker input to all manner of industries.

Quebec Health Minister Yves Bolduc made waves when, upon taking the job in 2008, he claimed the “Toyota Way” would help ease the burden on the province’s over-stretched health-care system.

But Toyota’s recall of 8.5 million vehicles because of a dangerous accelerator-pedal defect has given some pause about the wisdom of following its example.

“There’s a lesson there for us,” said Dr. Michel Tetreault, president and CEO of St. Boniface General Hospital in Winnipeg. “We have try to figure out what went wrong with Toyota.”

Along with hospitals in Quebec, New Brunswick and the Ontario cities of Kingston and Windsor, St. Boniface is among those that have undertaken Toyota-inspired reforms, also known as the “lean” health-care approach.

The idea is to focus hospital processes on the patient, stripping away anything that doesn’t serve that end.

It has been used to deal with such perennial health-care problems as emergency-room overcrowding by deleting unnecessary red tape.

Hospitals in Britain and the United States have been incorporating Toyoda’s insights for several years and studies have identified successes that include, in one case, reducing registration times from 60 minutes to zero.

At St. Boniface, Tetreault says Toyota-inspired methods allowed them to reduce by half the average time patients with chest pains have to wait for a cardiogram – to 14 minutes from a half-hour.

“The idea isn’t making a better process, the idea is getting a better patient result,” he said.

“If that’s not your starting point, you can go off in all sorts of wrong directions. You can do the best operation in the world in five minutes, but if its on the wrong patient you’ve got a problem.”

But Toyota’s recent troubles have stirred debate among advocates of its methods in the health-care sector.

The consensus appears to be that Toyota stopped worrying about making the best cars possible and became obsessed instead by becoming the largest car manufacturer in the world.

“Toyota’s rapid growth meant they started cutting corners,” said Sylvain Landry, a professor at the Universite de Montreal who specializes in hospital logistics.

“They didn’t provide their employees with enough training, they multiplied their number of factories around the world too quickly and put a lot of pressure. They distanced themselves from the core elements of the Toyota System.”

The danger, for Landry, is that hospitals reject Toyota’s methods before giving them a chance to take root.

“It’s not the fashion of the year,” he said. “It’s long-term institutional learning and I think Toyota’s misadventures are reminding us of that.”

In Quebec, Bolduc and his staff have faced criticism recently over increasingly long wait times at Montreal emergency rooms.

It’s hospitals such as these that can benefit from the Toyota approach, which improves the way emergency rooms interacts with other areas of the hospital, Landry said.

“You can’t throw the baby out with the bath water,” he added. “We have to be careful not to become too cynical about the Toyota system.”

For Tetreault, the beauty of the Toyota system lies in its refusal to lay blame on one given person.

He points to the problems at Hotel-Dieu Grace Hospital in Windsor, where a patient is suing doctors after they removed a healthy breast in the mistaken belief it was cancerous.

“You can be tempted to make that a person issue, that this surgeon was either dumb, lazy, tired or undertrained,” Tetreault said.

“Or you can look at the system and the processes and ask what safeguards were in place for this not to happen?”

So as Canadian hospitals go full speed ahead applying Toyota’s mantra, some of the carmaker’s executives may be left wondering why they didn’t follow their own advice.

WASHINGTON (Reuters Life!) – Germs that make their home in the gut may help cause obesity and a range of health-threatening symptoms that go along with it, researchers reported Thursday.

It could be that certain bacteria cause inflammation that can affect appetite as well as inflammatory bowel conditions like Crohn’s disease and colitis, the researchers reported in the journal Science.

In other words, the germs make you overeat, Andrew Gewirtz of Emory University in Atlanta and colleagues reported.

“Previous research has suggested that bacteria can influence how well energy is absorbed from food, but these findings demonstrate that intestinal bacteria can actually influence appetite,” Gewirtz said.

“The obesity epidemic is driven by people eating too much, but why are people eating more?”

Gewirtz said the research suggests that bacteria may play a role — perhaps a population of bacteria that thrive because other, competing organisms have been wiped out by antibiotics, access to clean water and other factors of modern life.

His team stumbled on the findings by accident.

“We were studying mice that had colitis,” Gewirtz said in a telephone interview.

The team suspected some kind of germ was responsible, so they transferred mouse embryos into surrogate mothers to prevent them from being infected by their own mothers.

Babies are colonized by bacteria and other micro-organisms soon after birth and the makeup of these colonies — which persist for life in the skin and bowels — are very similar to those of the mother.

The colitis was better but the baby mice became obese and developed metabolic syndrome — a cluster of symptoms that include unhealthy cholesterol levels, too much fat around the midsection, high blood pressure and insulin resistance.

Insulin resistance means the body does not use insulin effectively to break down food and Gewirtz believes this may be the key.

PREVIOUS RESEARCH

The researchers remembered a recent study in which normal, slender mice became obese when fed gut bacteria from fat mice.

They worked with that team, including Ruth Ley of Cornell University in New York, to see what role the gut bacteria may be playing.

“What we we think is that the mice are prone to intestinal inflammation,” Gewirtz said. “If you have a lot of inflammatory signals about, insulin won’t work properly.”

Weeks of antibiotic therapy helped, and so did diets.

“If we limit their food intake they are mostly OK; they certainly are no longer obese,” he said. “They are, however, insulin-resistant.”

Gewirtz’s team is now working to see if they can identify the micro-organisms involved. They are also working to see if obese people have unique patterns of gut bacteria.

Scientists know that hundreds of species of bacteria live in the gut and an average person carries about 5 pounds (2 kg) worth. On Wednesday, Chinese scientists reported in the journal Nature that they found 1,000 different species in human intestines.

So could you treat obesity by taking an antibiotic to wipe out the offending germs that are making people overeat?

“It is very hard to replace the bacteria that you have,” Gewirtz said. Studies already show it is difficult to treat conditions like Crohn’s disease, even with months of antibiotics.

_Reut16:13 03-04-10

CHICAGO – The odds of obesity appear stacked against black and Hispanic children in the United States starting even before birth, provocative new research suggests.

The findings help explain disproportionately high obesity rates in minority children. Family income is often a factor, but so are cultural customs and beliefs, the study authors said.

They examined more than a dozen circumstances that can increase chances of obesity, and almost every one was more common in black and Hispanic children than in whites. Factors included eating and sleeping habits in infancy and early childhood and mothers smoking during pregnancy

In a separate, equally troubling study, researchers found signs of inflammation in obese children as young as three years old. High levels were more common in blacks and Hispanics.

These inflammatory markers have been linked with obesity in adults and are thought to increase chances for developing heart disease. Their significance in early childhood is uncertain, but the study’s lead author says she never thought they’d be found in children so young.

“We think that fat cells in the body cause inflammation and that inflammation causes vessel damage,” said University of North Carolina researcher Asheley Cockrell Skinner, the lead author.

The results suggest that three-year-olds with inflammation might already have artery changes that could make then prone to later heart problems, although that needs to be examined in future research, she said.

Both studies were released Monday in the journal Pediatrics.

Dr. Reginald Washington, a Denver pediatric heart specialist who has worked with the American Academy of Pediatrics on obesity issues, called both studies important.

He said they underscore the merit of first lady Michelle Obama’s campaign against childhood obesity.

“You still have to get the public to say we believe this is a problem,” Washington said. “Everybody’s going to have to play a role here.”

Twenty per cent of black and Hispanic children ages two to 19 are obese, versus 15 per cent of whites, recent U.S. government data show.

In the racial disparities study, risk factors examined included: mothers smoking during pregnancy; unusually rapid weight gain in young infants; starting solid food before four months; mothers’ routinely pressuring young kids to eat more; children sleeping less than 12 hours daily between six months and two years; and allowing very young kids to have sugary drinks, fast-food, and/or TVs in their rooms.

Minorities were at higher risk than whites for nearly every one.

“It’s striking,” said lead author Dr. Elsie Taveras of Harvard Medical School.

The researchers questioned 1,826 Boston-area mothers, but Taveras said the study results apply to youngsters nationwide.

Many circumstances studied are more common in low-income, less educated families, including whites. Taveras said the researchers accounted for that and still found race was frequently a factor regardless of income.

The results may reflect cultural beliefs or influence from grandparents on feeding practices, but the good news, she said, is that almost every risk factor studied can be changed.

The separate, inflammation study involved data on more than 16,000 children aged one to 17 who had blood tests during 1999-2006 national health surveys.

Inflammation markers including a substance called C-reactive protein or CRP were measured. CRP levels of at least one milligram per decilitre of blood have been linked with heart disease risks in adults.

Starting at age three, very obese children were more likely than less heavy kids to have levels at least that high. Even higher levels were most common in black and Hispanic kids.

Skinner said it’s unlikely that elevated levels will cause problems at age three. But researchers don’t know if the presence of these markers at such a young age might put children at risk for heart problems early in adulthood.

Infections also can cause elevated CRP levels; the researchers took that into account and also excluded children with chronic illness.

The results are preliminary and do not mean that parents of obese kids should rush out and have their kids’ CRP levels tested, Washington said. That’s partly because it’s not clear if lowering CRP levels in obese kids, through weight loss for example, would make any difference, he said.

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On the Net:

American Academy of Pediatrics: http://aap.org

WINNIPEG – Some women are still trying to sell their breast milk online despite concerns from Health Canada about possible disease transmission and contamination.

One new mother in Winnipeg, who recently had to retract an online ad for her milk, says it is the only way to ensure that her surplus breast milk can get to babies who need it.

“Everyone knows that breast milk is best (for infants) … so I figured that if someone else could use it, by all means I would be willing to sell it or potentially give it away,” said Sara Wiens, who gave birth to her son Simon last October.

Simon was born with Down syndrome. His slow muscle development makes it hard for him to swallow, so doctors urged Wiens to pump her milk so that it could be tube-fed to Simon. Wiens later discovered that Simon had an allergy to the protein in cow’s milk and stopped eating dairy products herself, but that meant the breast milk she had already pumped could not be given to her son.

Wiens put a classified ad on the Kijiji website, seeking up to $500 for three-months’ worth of milk, but was told earlier this month to pull the ad because Kijiji forbids sales of bodily fluids.

Wiens is not alone. A quick scan of Kijiji this week turned up a similar ad from someone in Toronto seeking $2 an ounce for her milk, and another in Ottawa asking for $3 an ounce. There are other international websites, such as Onlythebreast.com, that have message boards dedicated to matching breast milk donors with potential buyers.

Many of the sellers say they are producing more milk than their children need, while many buyers are mothers who cannot produce enough milk on their own and who don’t want to use formula.

The federal government has a long-standing position of “not recommending” private sales of human breast milk. Viruses, such as HIV, and bacteria can be transmitted through breast milk, as well as traces of prescription and non-prescription drugs, Health Canada says.

And there are other risks.

“Improper hygiene when extracting the milk, as well as improper storage and handling, could also cause these products to spoil or be contaminated,” Philippe Laroche, a Health Canada spokesman, said in an email this week.

Women in British Columbia have another option. The B.C. Women’s Milk Bank, the only facility of its kind in Canada, screens donor mothers for HIV, hepatitis and other diseases and pasteurizes donated milk. People who want to receive the donated milk require a doctor’s prescription.

Wiens believes similar banks should be available in other cities.

“If every major city could have something like that, then all the preemies in the hospital could benefit from that,” she said. “Babies can use it.”

In the meantime, Wiens said she’s willing to undergo blood tests and provide character references to potential buyers.

“If people are trusting of me and of my milk, than by all means (the sale) should be between me and them.”

SAN DIEGO – More than 30 years after the world greeted its first “test-tube” baby with a mixture of awe, elation and concern, researchers say they are finding only a few medical differences between these children and kids conceived in the traditional way.

More than 3 million children have been born worldwide as a result of what is called assisted reproductive technology, and injecting sperm into the egg outside the human body now accounts for about 4 per cent of live births, researchers reported Sunday at the annual meeting of the American Association for the Advancement of Science.

The majority of assisted reproduction children are healthy and normal, according to researchers who have studied them. Some of these children do face an increased risk of birth defects, such as neural tube defects, and of low birth weight, which is associated with obesity, hypertension and Type 2 diabetes later in life, the researchers said.

“Overall, these children do well,” said Andre Van Steirteghem of the Brussels Free University Center for Reproductive Medicine in Belgium. “It is a reassuring message, but we must continue to follow up.”

Carmen Sapienza, a geneticist at Temple University School of Medicine in Philadelphia, noted that few of these test tube children are older than 30, so it’s not known if they will be obese or have hypertension of other health problems at age 50 or older.

Sapienza said researchers found differences in 5 per cent to 10 per cent of chromosomes between assisted reproduction children and other kids.

What’s not clear is whether these differences result in some way from assisted reproduction techniques or if they stem from other factors, perhaps ones that caused the couple’s infertility in the first place.

Only a small fraction of the assisted reproduction children were outside the normal range of gene expression, Sapienza reported. “However, because some of the genes found to be affected are involved in the development of fat tissue and the metabolism of glucose, it will be interesting to monitor these children, long term to determine whether they have higher rates of obesity or diabetes.”

“There are genetic causes of infertility that you can bypass now,” Van Steirteghem said. “But this may mean that the next generation will be infertile, and that is something that all clinics should mention.”

One factor in low birth weight may be that in many cases assisted fertility results in multiple births, which tend to be early and of lower weight.

“We must reduce the epidemic of multiple births,” Van Steirteghem said, noting that in Sweden the rate had been cut from around 30 per cent in the early 1990s to about 5 per cent today.

In the United States, the Society for Assisted Reproductive Technology reported that the use of a single embryo transfer is increasing the percentage of triplet births is down to below 2 per cent.

Sapienza noted that women seeking assisted reproduction tend to be older than those who conceive naturally, but said that had been controlled for in the studies comparing the two groups of children.

Dolores J. Lamb of the Baylor College of Medicine in Houston urged more testing of males for the reason for infertility.

“There are correctable causes of male infertility and a couple can then have children the natural way,” she said. Also, infertility can be the first symptom of diseases such as testicular cancer, Lamb said.

As of 2008, the most recent data available, the United States reported that 361 clinics did 140,795 treatment cycles leading to the birth of 56,790 babies.

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On the Net:

AAAS: http://www.aaas.org

EDMONTON – An Alberta judge has given the parents of a brain-damaged infant more time to consult with medical experts to review whether their son should be unhooked from life support.

Rebecka May, mother of baby Isaiah May, said Friday that she and her husband should have a much better idea of their infant son’s prognosis when they return to Court of Queen’s Bench on March 11.

“We should have the answers by then,” May said outside court.

“Of course, I want all the time I can with him, but we hope to gain the most knowledge we can in that time and get the most questions answered and then be able to make an informed decision.”

The baby was born last October with severe brain damage after his umbilical cord got wrapped around his throat, which deprived him of oxygen.

Doctors at Edmonton’s Stollery Children’s Hospital were planning to disconnect Isaiah from a ventilator on Jan. 20, but his parents persuaded a judge to give them time to get a second opinion.

Dr. Richard Taylor, a neonatologist from Victoria General Hospital, has agreed to examine the boy, but has just started reviewing the file and only arrived in Edmonton on Thursday. Taylor will return to Victoria to consult with colleagues before delivering his report.

Meanwhile, the Mays are trying to line up a second expert – which hasn’t been easy, said their lawyer Rosanna Saccomani. Some doctors are reluctant to get involved in a case that has attracted so much media attention; some charge fees beyond the Mays’ means.

“One doctor quoted us $750 an hour,” she said. “That’s prohibitive.”

Taylor is not charging a fee, May said.

Saccomani said the family may reach a decision by the next court date or they may not – they just want to take their time to ensure they’ve got the best advice.

“We don’t want to rush anything,” she said. “There’s no need to rush things. We’re hoping to have an answer sooner rather than later but we want the proper time to be taken so the family gets all the answers they need.”

Meanwhile, while baby Isaiah’s condition hasn’t changed much, he continues to grow and do well, said Rebecka May, 23.

“Everything is mostly the same. He has taken some breaths over the ventilator. He’s growing, he gains weight, he’s doing well overall.”

Father Isaac May, 22, said his son now weighs 5.5 kilograms.

“He looks like a perfect little boy,” said Isaac.

“We’ve had our ups and downs, of course, but the last few weeks have been pretty good. We’ve been able to have a break from everything and relax and spend a lot of time with Isaiah.”

WINNIPEG – A Manitoba politician is pushing for more measures to protect consumers after another Winnipeg store recently sold expired baby food.

NDP’s Judy Wasylycia-Leis, MP for Winnipeg North, says “the expiry date has to mean something.” Heather Benci said her family unknowingly bought baby formula that was more than six months past its expiry date at a Superstore.

Last November, Jose Edmond’s son, Jacob, became ill after consuming expired baby formula bought from a Winnipeg drug store.

That story prompted Benci to shop elsewhere but her family’s purchase of expired baby food has made her concerned.

Superstore’s head office said in a statement that there are procedures that check for products near expiration and to discard them once the date has passed.

“Independent auditors also conduct regular spot checks throughout the year. A rigorous reinforcement of this process is underway with the staff at this store,” the store said in its statement.

Wasylycia-Leis says the Canadian Food Inspection Agency and Health Canada should do more to protect Canadians by designating an absolute safe period for expiry dates and ensuring inspectors are checking that expired food is taken off shelves.

“We need to do something and I will look at a private member’s bill or motion to get the government to say what is that safe period of time and let retailers know that,” says Wasylycia-Leis.

The Canadian Food Inspection Agency investigates complaints of expired baby formula on store shelves but says its inspectors need to confirm and find the expired product in a store to take action against a retailer.

Wasylycia-Leis says that passes the burden of food safety onto the consumer and that needs to change.

Some of mankind’s most devastating inherited diseases appear to be declining, and a few have nearly disappeared, because more people are using genetic testing to decide whether to have children.

Births of babies with cystic fibrosis, Tay-Sachs and other less familiar disorders seem to have dropped since testing came into wider use, The Associated Press found from interviews with numerous geneticists and other experts and a review of the limited research available.

Many of these diseases are little known and few statistics are kept. But their effects – ranging from blood disorders to muscle decline – can be disabling and often fatal during childhood.

Now, more women are being tested as part of routine prenatal care, and many end pregnancies when diseases are found. One study in California found that prenatal screening reduced by half the number of babies born with the severest form of cystic fibrosis because many parents chose abortion.

More couples with no family history of inherited diseases are getting tested before starting families to see if they carry mutations that put a baby at risk. And a growing number are screening embryos and using only those without problem genes.

The cost of testing is falling, and the number of companies offering it is rising. A 2008 federal law banning gene-based discrimination by insurers and employers has eased fears.

Genetic testing pushes hot-button issues: abortion, embryo destruction and worries about eugenics – selective breeding to rid a population of unwanted traits. Yet it is touching a growing number of people:

-In suburban Cleveland, Beth and Thad Meese were stunned to learn during her second pregnancy that they carry genes that can cause cystic fibrosis. Tests show the baby won’t have the disease, but they have decided against having a third child or to screen embryos if they do. “I feel like we got lucky” and should not tempt fate again, she said.

-In Boston, Harvard psychologist and author Steven Pinker and his wife, novelist Rebecca Goldstein, learned last year that they carry genes that cause a serious neurological disease, familial dysautonomia. Too old to have children, they shared the news with younger relatives, who are being tested to see if they, too, have the gene. “There’s a tendency psychologically to think these are very rare and what are the chances that two people could both have rare genes,” Pinker said. “Not only can it happen, but it happened to me.”

-In the Canadian city of Vancouver, Jeff and Megan Carroll screened embryos to have two children free of the Huntington’s disease gene Jeff has. “I felt very strongly that I didn’t want to pass on this,” he said. Huntington’s “is done killing people in my family when I am gone.”

Although genetic testing can raise moral dilemmas, at least one conservative religious group – Orthodox Jews – has found ethically acceptable ways to use it to lessen diseases that have plagued its populations.

“I am a Holocaust survivor. I was born in the middle of the second World War. I hope that I am not a suspect for practicing eugenics. We are trying to have healthy children,” said Rabbi Josef Ekstein of New York, who founded a group that tests couples and discourages matches when both carry problem genes.

Some diseases – sickle cell, cystic fibrosis, Tay-Sachs, thalassemia, spinal muscle atrophy – occur when people inherit two bad genes, one from each parent. The genes can pass quietly for generations until two carriers mate; then children have a one-in-four chance of getting the disease.

(Down syndrome is the best known disorder for which prenatal testing has long been available, but it’s caused by an extra chromosome during abnormal cell division – not genes inherited from the parents.)

Statistics for inherited diseases are hard to come by – birth certificates often don’t list them, and they sometimes aren’t diagnosed for months or years after birth. Yet, there’s little doubt that testing has put a dent in many.

“We’re definitely seeing decreased rates of certain genetic disorders as a result of carrier screening,” said Dr. Wendy Chung, clinical genetics chief at Columbia University. In five years, she has seen only one case of Tay-Sachs, a neurological disease that used to be more common in Ashkenazi, or Eastern European Jews. Children with the disease lack a key enzyme; they lose mental and physical abilities and usually die by age 4.

In the last decade, only about a dozen new cases of Tay-Sachs occurred each year in the United States, said Dr. Michael Kuback, a professor at the University of California at San Diego who tracks the disease.

Ekstein, the rabbi, lost four children to it before founding Dor Yeshorim, a Brooklyn-based group that recruits Jews to be tested. Using confidential PIN numbers, they call a hotline to see if a prospective mate would be a risky match. The group has 300,000 members and tests for nine diseases, including cystic fibrosis.

“In the Orthodox Ashkenazi community around the world, we virtually have wiped out the diseases we screen for,” said the group’s development director, Allan Binder.

One is familial dysautonomia. Since 2004, only a few children worldwide have been born with it each year, and it soon may cease to exist because of genetic screening, said Dr. Barron Lerner, a Columbia University medical historian. The disease causes faulty nerve development, floppy muscles, digestive and other problems, and kills many by young adulthood.

Fragile X syndrome, the leading cause of mental impairment in boys, may decline because carrier testing for parents and prenatal testing of fetuses is now available for it, said Barbara Biesecker, director of the genetic counselling program at the National Institutes of Health.

Lots of eyes are on cystic fibrosis, a disease that causes sticky mucus buildup in the lungs, digestive problems and death in young adulthood. More than 10 million Americans – one in 25 to 29 whites, who are more at risk for it than blacks – carry a gene mutation for it. In 2001, the American College of Obstetricians and Gynecologists and other groups recommended that white pregnant women be offered testing for mutations. Tests on partners and fetuses often followed, and an unknown number of abortions.

The impact showed up two years later in Massachusetts, one of the few states testing newborns for the disease at the time. Births of babies with cystic fibrosis dropped, from 29 in 2000 to only 10 in 2003, ticking up to 15 in 2006, said Dr. Richard Parad, a Brigham and Women’s Hospital physician who helped set up the screening program.

In California, Kaiser Permanente, a large health maintenance organization, offered prenatal screening. From 2006 through 2008, 87 couples with cystic fibrosis mutations agreed to have fetuses tested, and 23 were found to have the disease. Sixteen of the 17 fetuses projected to have the severest type of disease were aborted, as were four of the six fetuses projected to have less severe disease.

Comparisons to couples not given prenatal screening suggested that screening had cut births of babies with severe disease in half, researchers reported at a genetics conference in 2008. Studies in Canada, Italy, Australia and in Europe also found that cases dropped after screening began.

The Cystic Fibrosis Foundation’s registry, which tracks voluntarily reported cases, shows a steady rise in recent years. But that is because more states have started testing all newborns, discovering cases that previously went unreported, some researchers believe. In December, Texas became the final state to add such testing; the first reliable national estimate of cases is expected in a couple of years.

Beth Meese, the Cleveland nurse who discovered from prenatal tests that she and her husband are carriers, wishes they had been screened before pregnancy. By the time they learned of their risk, they had seen an ultrasound and decided to have the baby no matter what its tests showed.

“We saw the baby, saw it moving,” she said. “It makes that decision that much more difficult to make.”

Gene testing hasn’t led to declines in all diseases. Sickle cell, a blood disorder that causes anemia and pain and raises the risk of stroke, has not dropped. It mostly afflicts blacks; gene carriers are said to have sickle cell “trait,” which sounds harmless.

“Now we’re actually learning that it’s not as benign as we thought it was,” and that carriers have higher risks for certain medical problems, said Dr. Lanetta Jordan, a Florida physician and chief medical officer of the Sickle Cell Disease Association of America.

Newborn screening is finding more sickle cell carriers and cases, but this doesn’t seem to affect parents’ future family plans, Jordan said.

Gene testing also has had little impact on Huntington’s disease, a progressive, fatal neurological disorder. Unlike many other inherited diseses, only one bad copy of a gene is needed to cause Hungtington’s, and symptoms don’t usually appear until middle age, after many have already had children.

Fewer than 15 per cent of people in families with a history of it agree to be tested, said Kimberly Quaid, an Indiana University genetics researcher.

“They just prefer to live their life and hope for the best,” she said.

Jeff Carroll, the Canadian who, with his wife, screened embryos because he carries the Huntington’s gene, said it is “unconscionable” to procreate without taking steps to prevent passing on the disease. “Having my test result has immensely improved my life. I was able to make reproduction decisions that ended HD in my family,” and to launch a career as a biologist researching the disease, he said.

The number of fertility treatments that include embryo screening has been on the rise in recent years, with nearly 5,200 screenings in 2006, according to the Society for Assisted Reproductive Technology. Carrier testing also is rising. A California company, Counsyl, sells a $349 saliva test for genes for more than 100 inherited disorders. Several thousand people used it over the last year, the company reports.

Eliminating disease is a noble goal but also “should give us pause,” Lerner, the Columbia historian, wrote recently in the New England Journal of Medicine.

“If a society is so willing to screen aggressively to find these genes and then to potentially to have to abort the fetuses, what does that say about the value of the lives of those people living with the diseases?” he asked.

It’s a touchy issue. The Cystic Fibrosis Foundation points out that the disease varies greatly in severity, and life expectancy with it is now 37 years.

Diseases like familial dysautonomia and Tay-Sachs, which kill before school age, are easier cases. If one of those vanishes, “thank God,” said Rabbi Ekstein of the Jewish testing group. “It gives me a very good feeling that we are a part of such life-saving efforts.”

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On the Net:

March of Dimes: www.marchofdimes.com/pnhec/4439.asp

National Human Genome Research Institute: www.genome.gov/19516567

American College of Medical Genetics: www.acmg.net

Some of mankind’s most devastating inherited diseases appear to be declining, and a few have nearly disappeared, because more people are using genetic testing to decide whether to have children.

Births of babies with cystic fibrosis, Tay-Sachs and other less familiar disorders have dropped since testing came into wider use, The Associated Press found from a review of studies and interviews with numerous geneticists and other experts and a review of the limited research available.

Many of these diseases are little known and few statistics are kept. But their effects – ranging from blood disorders to muscle decline – can be disabling and often fatal during childhood.

Now, more women are being tested as part of routine prenatal care, and many end pregnancies when diseases are found. One study in California found that prenatal screening reduced by half the number of babies born with the severest form of cystic fibrosis because many parents chose abortion.

More couples with no family history of inherited diseases are getting tested before starting families to see if they carry mutations that put a baby at risk. And a growing number are screening embryos and using only those without problem genes.

The cost of testing is falling, and the number of companies offering it is rising. A 2008 federal law banning gene-based discrimination by insurers and employers has eased fears.

Genetic testing pushes hot-button issues: abortion, embryo destruction and worries about eugenics – selective breeding to rid a population of unwanted traits. Yet it is touching a growing number of people:

-In suburban Cleveland, Beth and Thad Meese were stunned to learn during her second pregnancy that they carry genes that can cause cystic fibrosis. Tests show the baby won’t have the disease, but they have decided against having a third child or to screen embryos if they do. “I feel like we got lucky” and should not tempt fate again, she said.

-In Boston, Harvard psychologist and author Steven Pinker and his wife, novelist Rebecca Goldstein, learned last year that they carry genes that cause a serious neurological disease, familial dysautonomia. Too old to have children, they shared the news with younger relatives, who are being tested to see if they, too, have the gene. “There’s a tendency psychologically to think these are very rare and what are the chances that two people could both have rare genes,” Pinker said. “Not only can it happen, but it happened to me.”

-In Vancouver, Jeff and Megan Carroll screened embryos to have two children free of the Huntington’s disease gene Jeff has. “I felt very strongly that I didn’t want to pass on this,” he said. Huntington’s “is done killing people in my family when I am gone.”

Although genetic testing can raise moral dilemmas, at least one conservative religious group – Orthodox Jews – has found ethically acceptable ways to use it to lessen diseases that have plagued its populations.

“I am a Holocaust survivor. I was born in the middle of the Second World War. I hope that I am not a suspect for practising eugenics. We are trying to have healthy children,” said Rabbi Josef Ekstein of New York, who founded a group that tests couples and discourages matches when both carry problem genes.

Some diseases – sickle cell, cystic fibrosis, Tay-Sachs, thalassemia, spinal muscle atrophy – occur when people inherit two bad genes, one from each parent. The genes can pass quietly for generations until two carriers mate; then children have a one-in-four chance of getting the disease.

(Down syndrome is the best known disorder for which prenatal testing has long been available, but it’s caused by an extra chromosome during abnormal cell division – not genes inherited from the parents.)

Statistics for inherited diseases are hard to come by – birth certificates often don’t list them, and they sometimes aren’t diagnosed for months or years after birth. Yet, there’s little doubt that testing has put a dent in many.

“We’re definitely seeing decreased rates of certain genetic disorders as a result of carrier screening,” said Dr. Wendy Chung, clinical genetics chief at Columbia University. In five years, she has seen only one case of Tay-Sachs, a neurological disease that used to be more common in Ashkenazi, or Eastern European Jews. Children with the disease lack a key enzyme; they lose mental and physical abilities and usually die by age four.

In the last decade, only about a dozen new cases of Tay-Sachs occurred each year in the United States, said Dr. Michael Kuback, a professor at the University of California at San Diego who tracks the disease.

Ekstein, the rabbi, lost four children to it before founding Dor Yeshorim, a Brooklyn-based group that recruits Jews to be tested. Using confidential PIN numbers, they call a hotline to see if a prospective mate would be a risky match. The group has 300,000 members and tests for nine diseases, including cystic fibrosis.

“In the Orthodox Ashkenazi community around the world, we virtually have wiped out the diseases we screen for,” said the group’s development director, Allan Binder.

One is familial dysautonomia. Since 2004, only a few children worldwide have been born with it each year, and it soon may cease to exist because of genetic screening, said Dr. Barron Lerner, a Columbia University medical historian. The disease causes faulty nerve development, floppy muscles, digestive and other problems, and kills many by young adulthood.

Fragile X syndrome, the leading cause of mental impairment in boys, may decline because carrier testing for parents and prenatal testing of fetuses is now available for it, said Barbara Biesecker, director of the genetic counselling program at the National Institutes of Health.

Lots of eyes are on cystic fibrosis, a disease that causes sticky mucus buildup in the lungs, digestive problems and death in young adulthood. More than 10 million Americans – one in 25 to 29 whites, who are more at risk for it than blacks – carry a gene mutation for it. In 2001, the American College of Obstetricians and Gynecologists and other groups recommended that white pregnant women be offered testing for mutations. Tests on partners and fetuses often followed, and an unknown number of abortions.

The impact showed up two years later in Massachusetts, one of the few states testing newborns for the disease at the time. Births of babies with cystic fibrosis dropped, from 29 in 2000 to only 10 in 2003, ticking up to 15 in 2006, said Dr. Richard Parad, a Brigham and Women’s Hospital physician who helped set up the screening program.

In California, Kaiser Permanente, a large health maintenance organization, offered prenatal screening. From 2006 through 2008, 87 couples with cystic fibrosis mutations agreed to have fetuses tested, and 23 were found to have the disease. Sixteen of the 17 fetuses projected to have the severest type of disease were aborted, as were four of the six fetuses projected to have less severe disease.

Comparisons to couples not given prenatal screening suggested that screening had cut births of babies with severe disease in half, researchers reported at a genetics conference in 2008. Studies in Canada, Italy, Australia and in Europe also found that cases dropped after screening began.

The Cystic Fibrosis Foundation’s registry, which tracks voluntarily reported cases, shows a steady rise in recent years. But that is because more states have started testing all newborns, discovering cases that previously went unreported, some researchers believe. In December, Texas became the final state to add such testing; the first reliable national estimate of cases is expected in a couple of years.

Beth Meese, the Cleveland nurse who discovered from prenatal tests that she and her husband are carriers, wishes they had been screened before pregnancy. By the time they learned of their risk, they had seen an ultrasound and decided to have the baby no matter what its tests showed.

“We saw the baby, saw it moving,” she said. “It makes that decision that much more difficult to make.”

Gene testing hasn’t led to declines in all diseases. Sickle cell, a blood disorder that causes anemia and pain and raises the risk of stroke, has not dropped. It mostly afflicts blacks; gene carriers are said to have sickle cell “trait,” which sounds harmless.

“Now we’re actually learning that it’s not as benign as we thought it was,” and that carriers have higher risks for certain medical problems, said Dr. Lanetta Jordan, a Florida physician and chief medical officer of the Sickle Cell Disease Association of America.

Newborn screening is finding more sickle cell carriers and cases, but this doesn’t seem to affect parents’ future family plans, Jordan said.

Gene testing also has had little impact on Huntington’s disease, a progressive, fatal neurological disorder. Unlike many other inherited diseases, only one bad copy of a gene is needed to cause Hungtington’s, and symptoms don’t usually appear until middle age, after many have already had children.

Fewer than 15 per cent of people in families with a history of it agree to be tested, said Kimberly Quaid, an Indiana University genetics researcher.

“They just prefer to live their life and hope for the best,” she said.

Jeff Carroll, the Vancouver man who, with his wife, screened embryos because he carries the Huntington’s gene, said it is “unconscionable” to procreate without taking steps to prevent passing on the disease. “Having my test result has immensely improved my life. I was able to make reproduction decisions that ended HD in my family,” and to launch a career as a biologist researching the disease, he said.

The number of fertility treatments that include embryo screening has been on the rise in recent years, with nearly 5,200 screenings in 2006, according to the Society for Assisted Reproductive Technology. Carrier testing also is rising. A California company, Counsyl, sells a $349 saliva test for genes for more than 100 inherited disorders. Several thousand people used it over the last year, the company reports.

Eliminating disease is a noble goal but also “should give us pause,” Lerner, the Columbia historian, wrote recently in the New England Journal of Medicine.

“If a society is so willing to screen aggressively to find these genes and then to potentially to have to abort the fetuses, what does that say about the value of the lives of those people living with the diseases?” he asked.

It’s a touchy issue. The Cystic Fibrosis Foundation points out that the disease varies greatly in severity, and life expectancy with it is now 37 years.

Diseases like familial dysautonomia and Tay-Sachs, which kill before school age, are easier cases. If one of those vanishes, “thank God,” said Rabbi Ekstein of the Jewish testing group. “It gives me a very good feeling that we are a part of such life-saving efforts.”

-

On the Net:

March of Dimes: www.marchofdimes.com/pnhec/4439.asp

National Human Genome Research Institute: www.genome.gov/19516567

American College of Medical Genetics: www.acmg.net