birth defects

Birth Defect Risk from Insect Bites Received by Mother During Pregnancy

A North Carolina State University researcher has discovered that bacteria transmitted by fleas-and potentially ticks-can be passed to human babies by the mother, causing chronic infections and raising the possibility of bacterially induced birth defects.

Dr. Ed Breitschwerdt, professor of internal medicine in the Department of Clinical Sciences, is among the world's leading experts on Bartonella, a bacteria that is maintained in nature by fleas, ticks and other biting insects, but which can be transmitted by infected cats and dogs as well. The most commonly known Bartonella-related illness is cat scratch disease, caused by B. henselae, a strain of Bartonella that can be carried in a cat's blood for months to years. Cat scratch disease was thought to be a self-limiting, or "one-time" infection; however, Breitschwerdt's previous work discovered cases of children and adults with chronic, blood-borne Bartonella infections-from strains of the bacteria that are most often transmitted to cats (B. henselae) and dogs (B. vinsonii subsp. berkhoffii) by fleas and other insects.

In his most recent case study, Breitschwerdt's research group tested blood and tissue samples taken over a period of years from a mother, father and son who had suffered chronic illnesses for over a decade. Autopsy samples from their daughter-the son's twin who died shortly after birth-contained DNA evidence of B. henselae and B. vinsonii subsp. berkhoffi infection, which was also found in the other members of the family.

Both parents had suffered recurring neurological symptoms including headaches and memory loss, as well as shortness of breath, muscle weakness and fatigue before the children were born. In addition, their 10-year-old son was chronically ill from birth and their daughter died due to a heart defect at nine days of age.

Results of the parents' medical histories and the microbiological tests indicated that the parents had been exposed to Bartonella prior to the birth of the twins, and finding the same bacteria in both children, one shortly after birth and the other 10 years later, indicates that they may have become infected while in utero.

"This is yet more evidence that Bartonella bacteria cause chronic intravascular infections in people with otherwise normal immune systems, infections that can span a decade or more," Breitschwerdt says. "Also this new evidence supports the potential of trans-placental infection and raises the possibility that maternal infection with these bacteria might also cause birth defects."

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Antidepressant tied to risk of newborn heart defect

Women who use the antidepressant bupropion during early pregnancy may have an increased risk of having a baby with a particular type of heart defect, a new study suggests.

Researchers caution that it is not clear whether the medication, marketed as Wellbutrin, is the cause. And even if it is, they say, the absolute risk of the heart defect would be small -- affecting just 2 out of every 1,000 infants born to women who used bupropion during the first trimester.

But the findings, published in the American Journal of Obstetrics & Gynecology, do add to questions about the risks of using antidepressants during early pregnancy.

Some studies have already linked other antidepressants -- including some of the commonly used selective serotonin reuptake inhibitors (SSRIs) -- to higher-than-average, though small, risks of certain birth defects.

A study last year, for example, found that among nearly half a million Danish children born between 1996 and 2003, the risk of heart defects was elevated among those whose mothers had used SSRIs such as fluoxetine (Prozac), sertraline (Zoloft) and citalopram (Celexa) during early pregnancy.

In this latest study, researchers found that among more than 12,700 U.S. infants born between 1997 and 2004, those whose mothers used bupropion during early pregnancy had more than double the risk of heart defects known as left outflow tract defects, compared with infants whose mothers had not used the drug.

Left outflow defects affect the flow of blood from the heart's left chambers to the rest of the body. In this study, the most common type of this defect was coarctation of the aorta -- a narrowing in the body's main artery that, in children, typically requires surgical repair.

The findings do not mean, however, that depressed women on bupropion should stop taking it if they are planning a pregnancy, according to the researchers.

"I think it's important that women understand that they should not just stop taking their medication," said Dr. Jennita Reefhuis, a senior epidemiologist at the U.S. Centers for Disease Control and Prevention and one of the researchers on the study.

Instead, she told Reuters Health, women should talk with their doctors, ideally when they are planning a pregnancy rather than after they conceive.

The potential risk of birth defects from using antidepressants must be weighed against the risks of a woman stopping her current depression therapy, Reefhuis said.

"This study needs to be replicated before we can say anything conclusive," Reefhuis said, noting that the findings point to an association between bupropion and left outflow defects, but cannot by itself prove cause-and-effect.

If the association is causal, she said, the absolute risk to any one woman would be small. For every 1,000 births, there are an estimated 0.8 cases of left outflow tract heart defects; based on the current findings, that rate would be 2 per 1,000 among women who use bupropion in the first trimester.

Reefhuis also pointed out that with any pregnancy, the overall risk of having a baby with some form of birth defect is 3 percent.

Guidelines released last year by the American Psychiatric Association and the American College of Obstetricians and Gynecologists state that psychotherapy may be an effective alternative to antidepressants for pregnant women with mild to moderate depression.

However, the guidelines say, women with a history of more severe depression, or other major psychiatric disorders, may need to continue with their medication.

Bupropion is also prescribed for smoking cessation, under the brand-name Zyban. In the case of smoking cessation, Reefhuis said, it may be easier for women to find an effective alternative to the drug.

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Wanted: Volunteers, All Pregnant

The woman sent by government scientists visited the Queens apartment repeatedly before finding anyone home. And the person who finally answered the door - a 30-year-old Colombian-born waitress named Alejandra - was wary.

Although Alejandra was exactly what the scientists were looking for - a pregnant woman - she was "a bit scared," she said, about giving herself and her unborn child to science for 21 years.

Researchers would collect and analyze her vaginal fluid, toenail clippings, breast milk and other things, and ask about everything from possible drug use to depression, At the birth, specimen collectors would scoop up her placenta and even her baby’s first feces for scientific posterity.

She ultimately decided that participating would “help the next generation.”

Chalk one up for the scientists, who for months have been dispatching door-to-door emissaries across the country to recruit women like Alejandra for an unprecedented undertaking: the largest, most comprehensive long-term study of the health of children, beginning even before they are born.

Authorized by Congress in 2000, the National Children’s Study began last January, its projected cost swelling to about $6.7 billion. With several hundred participants so far, it aims to enroll 100,000 pregnant women in 105 counties, then monitor their babies until they turn 21.

It will examine how environment, genes and other factors affect children’s health, tackling questions subject to heated debate and misinformation. Does pesticide exposure, for example, cause asthma? Do particular diets or genetic mutations lead to autism?

But while the idea is praised by many experts, the study has also stirred controversy over its cost and content.

In August, the Senate committee overseeing financing for the study accused it of “a serious breach of trust” for not disclosing that the initial price tag of $3.1 billion would more than double, and said the study needed to release more information if it wanted to get “any” financing in the next budget year.

And an independent panel of experts and some members of the study’s own advisory committee say it misses important opportunities to help people and communities — emphasizing narrower medical questions over concerns like racial and ethnic health differences, leaving unresolved crucial ethical questions concerning what to tell participants and communities about test results.

“This study is of the magnitude of the accelerator in CERN, or a trip to the moon — a really big science issue,” said Milton Kotelchuck, a professor at the Boston University School of Public Health and a member of the independent panel. “But if you have a flawed beginning, then you’ve got 20 years of working on a flawed study.”

Officials are making changes, putting all but the pilot phase, to involve 37 locations, on hold while conducting an inquiry into the cost and scientific underpinnings, Dr. Collins said. Some data may no longer be collected if “we can’t afford” it, he said, and every aspect will receive “the closest possible scrutiny.”

The study is far from its plan of recruiting 250 babies a year for four or five years in each community. By December, 510 women were enrolled and 83 babies were born in the first seven locations, including Orange County, Calif., and Salt Lake County, Utah.

That was after knocking on nearly 64,000 doors, screening 27,000 women and finding 1,000 who were pregnant and in their first trimester (and therefore eligible).

The time and information required from families could also make the study “too burdensome to be conducted the way it is,” said Dr. Susan Shurin, former acting director of the National Institute of Child Health and Human Development, part of the National Institutes of Health and the study’s supervising agency. The fear is women will “go ‘Oh no, you again,’ and slam the door in your face.”

Specimens include blood, urine, hair and saliva from pregnant women, babies and fathers; dust from women’s bedsheets; tap water; and particles on carpets and baseboards. They are sent to laboratories (placentas to Rochester, N.Y., for example), prepared for long-term storage, and analyzed for chemicals, metals, genes and infections.

Participants provide the names and phone numbers of relatives and friends, so researchers can find them if they move. As children grow, scientists, including outside experts, can cross-reference information about their medical conditions, behavioral development and school performance.

Besides looking at widespread conditions, like diabetes, the study will consider regional differences. Maureen Durkin, principal investigator in Waukesha County, Wis., wonders if radium in the county’s water, and houses built on “farm fields that may be contaminated with nitrates and atrazine,” have different health consequences than pollution or industrial chemicals in Queens.

But study officials are trying to determine what information to give participants and when. Some experts say people should get results of their chemical or genetic tests only if medical treatments exist because otherwise it only causes anxiety. Others agree with Patricia O’Campo, a member of the study’s advisory committee and the independent panel, who says the study should be “less ivory towerish” and disclose more information to families and communities.

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Migraine drugs don’t up birth defect risk: study

A study in nearly 70,000 pregnant women has found no link between migraine drugs called triptans and the risk of birth defects.

However, the researchers did find a "slight increase" in the risk of excessive bleeding during labor, and the failure of the uterus to contract normally after delivery, for women who used the drugs while pregnant.

Triptans are among the most powerful drugs used for migraine; others include aspirin, Excedrin, and ibuprofen.

While as many as three in 10 women may develop migraines during their childbearing years, women often shy away from using such drugs during pregnancy because of safety concerns, according to study co-author Katerina Nezvalova-Henriksen of the University of Oslo in Norway and her colleagues.

However, the authors of the study in Headache note, untreated migraine may itself carry risks for mother and child; some studies have linked it to pre-eclampsia, a potentially deadly pregnancy complication.

"While it is important to exert caution when using any medications during pregnancy, this study indicates" that pregnant women can either start or continue taking triptans without "any major risk" of miscarriage, premature delivery, or other bad outcomes, the authors conclude.

Nezvalova-Henriksen and her team studied nearly 70,000 women. Two percent, or 1,535, had used sumatriptan (Imitrex), rizatriptan (Maxalt), zolmitriptan (Zomig), or eletriptan (Relpax) in pregnancy.

Less than one percent -- 373 women -- had used the drugs before getting pregnant but not during pregnancy.

The overall birth defect rate, which encompasses everything from large birthmarks to serious heart problems, was the same among women who had taken triptans during pregnancy and those who didn't have migraines: 5 percent. Among those who had used triptans in the past but not during pregnancy, it was slightly higher: 6 percent.

The women who used triptans were also more likely than non-triptan users to take other drugs during pregnancy, including acetaminophen (Tylenol) with codeine and non-steroidal anti-inflammatory drugs such as ibuprofen.

However, the rate of major birth defects - such as serious problems of the limbs or internal organs -- was 3 percent for all three groups. That rate - about one in 33 births - is about what would be expected for all birth defects in the general population.

The researchers did find that women who used triptans in their second or third trimester were more likely to develop a condition called atonic uterus, in which the uterus fails to contract back to its normal size after delivery. This is the leading cause of excessive bleeding after delivery. They were also more likely to lose significant amounts of blood during labor and delivery.

And during pregnancy, they were more likely to suffer from vomiting than women who had never used the drug; they were also more likely to develop pre-eclampsia or eclampsia, and more likely to have deficiencies in the B-vitamin folate.

While many women who suffer migraines will experience improvements in their symptoms after their first trimester, Nezvalova-Henriksen and her team note, those whose symptoms don't improve by then aren't likely to get better.

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Older mothers’ kids have higher autism risk, study finds

A 10-year study examining 4.9 million births in the 1990s has found more evidence that there's a link between autism and the mother's age at conception.

The link between the parents' age and children's health is not entirely new. Prior studies have indicated that babies born to older women have higher risks of birth defects, low birth weight and certain chromosome problems, such as Down syndrome.

A 2007 Kaiser Permanente study conducted in California reported that autism risk increased with both the mother's and father's age. An Israeli study based in statistics from 1980s had isolated only paternal age as being linked with increased risk for autism.

Dr. Max Wiznitzer, a pediatric neurologist at Rainbow Babies & Children's Hospital in Cleveland, Ohio, said the latest research had a far larger sample size.

In the latest study, researchers found that mothers over the age of 40 had 51 percent higher odds of having children with autism compared with mothers between the ages 25 and 29.

The father's age also played a factor, but only when he had a child with a woman under 30.

"When the mom has minimal age risk of an autistic child, we do see increased risks as dads get older," said lead author Janie Shelton, a graduate student researcher at UC-Davis.

It's unclear why the mother's age has more bearing in autism risk than the father's.

The study authors emphasize that while autism rates have risen 600 percent in the past two decades, older women having children contributed to only 5 percent more cases of autism.

As more women delay childbearing, it's important to keep the study in perspective, said Geraldine Dawson, chief science officer of Autism Speaks, the nation's largest autism science and advocacy organization.

"I don't think a mom blaming herself is going to help us understand what's causing autism or help prevent further cases," she said. "I would urge parents not to blame themselves, regardless of what age they are."

Shelton and the co-authors obtained all birth records in California from 1990 to 1999 and then collected data from the state's Department of Developmental Services to count the number of autism diagnoses from children born during that decade.

How parental age increases autism risks remains unknown, but several hypotheses exist. Some suggest that the cumulative effects of the environment, changes to the autoimmune system, stress and reproductive technology may affect autism risk.

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Most Pregnant Women Never Tested for the Most Common Birth Defect

Three out of five women who have given birth to a child with a congenital heart defect (CHD) -- the number-one birth defect and leading killer of infants and newborns -- were never tested for the defect during pregnancy. This is according to a survey just released by Little Hearts, Inc.

These findings come just as CHD Awareness Week begins (Feb. 7 - 14). The Little Hearts survey found that 60 percent of parents did not know their child had a CHD until after giving birth -- because the mothers were not tested for heart defects during pregnancy.

Of these parents, nearly three out of four (71.6 percent) wished they had known their child had a CHD during pregnancy -- mostly because they would have given birth at a hospital more equipped to handle the care of newborns with a CHD (41.6 percent).

"Congenital heart defects kill more children than childhood cancer, and yet, pregnant women are not routinely tested -- and newborns are not routinely screened -- for this defect," says Lenore Cameron, President and Executive Director, Little Hearts, Inc. "Early detection is absolutely critical to the successful treatment of congenital heart defects and, in countless cases, it saves lives."

Those families that did know their child had a CHD before giving birth (40.0 percent) reaped tremendous benefits from knowing in advance:

  • Three out of five (59.5 percent) said they gave birth at a hospital more equipped to handle the care of newborns with a CHD
  • One in five (19.8 percent) prepared themselves mentally and emotionally for the arrival of a seriously ill child
  • Others did their homework: 14.9 percent of respondents said they arranged for a pediatric cardiologist in advance of their baby's arrival, and 5.8 percent said that knowing in advance was most beneficial because it gave them time to do research on CHDs during the pregnancy

More Survey Results

  • Four out of five respondents (81.7 percent) said neither parent of the heart child had any family history of CHDs
  • Giving birth to a child with a CHD was more common for women in their 30s (65.2 percent) than in any other age group
  • Three out of four respondents (76.1 percent) said the mother did not take prescription drugs (which is considered a CHD risk factor) while pregnant with the heart child
  • Almost all respondents (96.4 percent) have only one child with a congenital heart defect; 3.6 percent have two or more children with a CHD
  • Nearly three out of five respondents (58.0 percent) said their heart child has two or more CHDs; 42.0 percent said their heart child has one CHD
  • The most common CHD among children of respondents was Hypoplastic Left Heart Syndrome (30.3 percent), a very serious heart defect that occurs when the left side of the heart does not develop completely

There are approximately 35 different types of CHDs. Some may be treated with surgery, medicine and/or devices, such as artificial valves and pacemakers. In the last 25 years, advances in the treatment of heart defects have enabled half a million U.S. children with serious CHDs to survive into adulthood. However, many cases of sudden cardiac death in young athletes are caused by undiagnosed CHDs and childhood-onset heart disease.

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Agricultural Chemical Spray Linked to Birth Defect Risk

There's a link between a birth defect called gastroschisis and the agricultural chemical atrazine, a new study has found.

Gastroschisis is an abdominal wall defect in which the intestines, and sometimes other organs, develop outside the abdomen through an opening in the abdominal wall. The incidence of this birth defect, also called infant abdominal hernia, has doubled to quadrupled over the past 30 years.

In the new study, researchers at the University of Washington in Seattle investigated whether environmental exposures were a factor in a higher than normal number of cases in the eastern part of the state.

"Our state has about two times the national average number of cases of gastroschisis," study co-author Dr. Sarah Waller said in a news release. "The life expectancy for fetuses with this diagnosis is better than 90 percent; however it requires delivery at a tertiary care center with immediate neonatal intervention, which often separates families and can cause serious financial and emotional stress."

Waller and colleagues analyzed 805 cases of live-born infants with gastroschisis between 1987 and 2006, along with 3,616 normal infants who acted as controls. The researchers matched birth certificates with U.S. Geological Survey databases of agricultural spraying of atrazine, nitrates, and 2,4-dichlorophenoxyacetic acid.

Gastroschisis occurred more often among infants born to mothers who lived less than 25 kilometers (or about 15.5 miles) from the site of high surface water contamination with atrazine. There was no increased risk associated with the other chemicals. The study authors also found that the risk of gastroschisis was higher for women who conceived in the spring (March through May), when agricultural chemical use is more prevalent.

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Healthy Baby Campaign Uses Texts to Reach Mothers

Expectant mothers are getting a new tool to help keep themselves and their babies healthy: pregnancy tips sent directly to their cell phones.

The so-called text4baby campaign is the first free, health education program in the U.S. to harness the reach of mobile phones, according to its sponsors, which include Johnson & Johnson, Pfizer, WellPoint and CareFirst BlueCross and Blue Shield. Wireless carriers including AT&T, Verizon and Sprint have agreed to waive all fees for receiving the texts.

Organizers say texting is an effective means of delivering wellness tips because 90 percent of people in the U.S. have cell phones.

"Especially if you start talking about low-income people, cell phones are the indispensable tool for reaching them and engaging them about their health," said Paul Meyer, president of Voxiva, a company which operates health texting programs in Africa, Latin America and India.

Studies in those countries have shown that periodic texts can reduce smoking and other unhealthy behaviors in pregnant mothers.

Meyer said the U.S. program, run by Voxiva, will be the largest health-related texting program ever undertaken.

Under the new service, mothers-to-be who text "BABY" to 511411 will receive weekly text messages, timed to their due date or their baby's birth date. The messages, which have been vetted by government and nonprofit health experts, deal with nutrition, immunization and birth defect prevention, among other topics. The messages will continue through the baby's first birthday.

Text4baby is expected to be announced Thursday morning by officials from the White House's Office of Science and Technology Policy. Government officials will be publicizing the campaign in speeches and promotional materials.

Organizers hope the effort can curb premature births, which can be caused by poor nutrition, excessive stress, smoking and drinking alcohol. About 500,000 babies are born prematurely in the U.S. each year, and 28,000 infants die before their first birthday, according to the Healthy Mothers, Healthy Babies Coalition. The nonprofit is among the sponsors of the campaign.

"The real scary thing is that we're an industrialized nation and we're not doing very well on infant mortality, and we know prematurity is a big part of that," said the group's director, Judy Meehan.

Currently the U.S. ranks 30th worldwide for infant mortality, according to Meehan, behind most Western European nations.

Researchers at the George Washington University have agreed to evaluate the effectiveness of text4baby by measuring health trends for mothers and newborns.

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Tips for Pregnant Pet Owners

Stephanie Shain lives with her husband, Adam, two daughters, two dogs and five cats.

Everyone needs attention. So when she was pregnant with her youngest, Mia, she knew she had to get her animals used to the idea of having a new baby in the house. Because of her work with the Humane Society, she knew animals handle change slowly.

Two or three months out start making those changes, so it's not a lot of changes all at once.

That means setting up the baby's room in front of the pet, and if the pet isn't allowed in the room keep the door shut.

And know your pet. If your cat or dog is protective, try to wean yourself away but let them know they are still loved.

If you're primarily the one who walks the dog, have someone else walk the dog; if you're spending a lot of time playing with your cat every day, make sure that someone else starts playing with your cats.

And if you're pregnant and have a cat, experts say be aware of Toxoplasmosis, a disease, caused by a parasite found in cat feces. It can cause birth defects. Doctors say the disease can be avoided by practicing good hygiene.

Usually the recommendation is to get somebody else to change the litter box.

Shain says taking precautions has paid off. Five-year-old Mia loves her fuzzy house mates and they seem happy to share the house with her.

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Birth defects in babies linked to mother’s job

Women working as scientists and pharmacists run a greater risk of having babies with birth defects as compared to women in other professions, suggests a new study by the New York State Department of Health.

The study, published in the journal Occupational and Environmental Medicine, involved 8,977 cases of birth defects and 3,833 healthy controls from the National Birth Defects Prevention Study.

On analyzing mothers of around 9,000 children with birth defects, the researchers observed that certain abnormal birth conditions were more likely to be found in children of janitors, pharmacists or biological and chemical scientists.

"Given those job titles, one would expect those women to work with different chemicals or something that could possibly be an exposure," said lead author Michele Herdt-Losavio from the New York State Department of Health.

Depending on the profession of the mother, the baby could be born with any of the physical defects, which are not related to the DNA, found Dr. Herdt-Losavio and her colleagues after studying 45 specific birth defects among mothers with 24 different occupations.

Women working as janitors were found to be more likely to give birth to a child with one or more of the defects including ear and eye defects, musculoskeletal problems, gastrointestinal problems, oral clefts and various other defects.

However, not all women working as janitors face similar risks, as Dr. Herdt-Losavio said, "There's lots of questions that can be asked.... What do you do as a janitor? What products do you use? What hours do you work? How many hours do you work?"

The researchers, however, did not probe the probable reasons for this association between the birth defect of a child and his mother’s profession but they did offer a possible reasoning.

"What we can guess by looking at these job titles is that ... it's possible that they work with chemicals," said Dr. Herdt-Losavio. "It's not possible to say what those chemicals might be, or how much they might work with. But what we can do is point other [researchers] in the direction and give them some idea of where they might want to dig further and collect more data."

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