Category Archives: Genetics & Birth Defects

Women’s Health – Week 36: Pelvic Floor Disorders

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tacuin womenFrom the Office of Research on Women’s Health

The term pelvic floor refers to the group of muscles and connective tissue that form a sling or hammock across the opening of a woman’s pelvis.

These muscles and tissues keep all of your pelvic organs in place so that the organs can function correctly.

A pelvic floor disorder occurs when your pelvic muscles and connective tissue in the pelvis is weak due to factors such as genetics, injury, or aging. Continue reading

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New study again finds higher rate of rare neurological birth defects in central Washington

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Washington MapA new study has again found a higher rate of a rare neurological birth defect, anencephaly, in Yakima, Benton and Franklin counties, Washington state health officials said Tuesday.

The study identified seven cases of the birth defect in these three counties in 2013, which translates into a rate of 8.7 per 10,000 births. That rate is similar to the rate seen in 2010-2012 and remains well above the national rate of 2.1 per 10,000 births, health officials said. Continue reading

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Insurers question value of some genetic tests

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3d Chromosome with DNA visible insideBy Michelle Andrews

The day when a simple blood test or saliva sample can identify your risk for medical conditions ranging from cancer to Alzheimer’s disease seems tantalizingly close.

But while advances in genetic testing increasingly give people critical information that may help prevent disease, genetics experts say sometimes the hype around these tests has outstripped the science.

Insurers, meanwhile, generally only cover tests if there’s strong scientific evidence that it can provide a health benefit to patients.

“The utility of some tests is not as clear as we’d like to think,” says Sharon Terry, president and CEO of the Genetic Alliance, an advocacy organization aimed at promoting health through genetics. “These technologies are advancing at a really rapid rate, and they’ll make a big impact on health. But the data gathering you need to do to determine clinical utility is difficult.” 

Insurers don’t cover a $99 genetic test sold directly to consumers by 23andMe that provides information about more than 240 genetic health conditions and traits that the company says can help people understand their health risks and carrier status for inherited disease, among other things.

In November, the Food and Drug Administration ordered the company to stop marketing the test because the agency concluded it was a medical device and subject to FDA review and approval, which it hadn’t received. In early December, the company announced it would stop selling its health-related genetic reports while it undergoes federal review.

Insurers commonly cover many diagnostic genetic tests that are ordered by doctors, for example, tests to look for rare diseases like cystic fibrosis in infants or children.

Insurers will typically also cover preventive genetic tests if the patient meets criteria based on family history or other risk factors, and if there’s an effective test with proven clinical benefit that’s recommended by a standard-setting organization like the U.S. Preventive Services Task Force.

In such cases, insurers also typically cover genetic counseling to first collect someone’s family and personal history to determine whether that patient is a candidate for a particular genetic test, and then help patients understand their results, says Rebecca Nagy, president of the National Society of Genetic Counselors.

Coverage is generally routine, but in recent years some health plans have begun paying a declining percentage of the cost of testing, says Nagy. “Companies that were covering a test at 90 percent are now covering it at 80 percent,” she says. Testing can be pricey. A genetic test for the BRCA mutations, for example, may cost $3,000 or more.

Under the Affordable Care Act, most health plans must make genetic counseling and testing available without any out-of-pocket cost to women whose family history indicates they have a higher than average risk of having mutations in the BRCA1 or BRCA2 genes that predispose women to breast and ovarian cancers. The ACA prevention coverage requirements are based on recommendations by the U.S. Preventive Services Task Force, which doesn’t recommend other preventive genetic tests.

Women frequently request genetic testing for breast cancer mutations because they believe their risk is higher than it is, say experts.

This is particularly true since the actress Angelina Jolie disclosed that she had a double prophylactic mastectomy to guard against breast cancer after learning she has a mutation in the BRCA1 gene.

But if a woman’s only family history of the illness is one relative who developed breast cancer at age 65, for example, that, by itself, doesn’t mean she’s at higher risk, says Nagy. With counseling, “many times we can give them reassuring numbers.”

In September, health insurer Cigna began requiring genetic counseling for members who were interested in three “commonly ordered and commonly misunderstood” genetic tests, says David Finley, the company’s national medical officer.

The tests covered by the new requirement are those for the BRCA mutations for breast and ovarian cancers, colorectal cancer and Long QT syndrome, an inherited heart condition that can cause sudden, potentially fatal heart arrhythmias.

Doctors who order these tests don’t necessarily suggest patients receive genetic counseling, even though national organizations recommend it, says Finley.

“From our perspective, the only way to make sure that patients are getting the information and taking the time that they need about these tests is to require that they see a genetic counselor,” he says.

Like other insurers, Cigna typically doesn’t cover genetic tests that don’t provide clinical benefit to the patient. “You don’t test for testing’s sake,” says Susan Pisano, a spokesperson for America’s Health Insurance Plans, a trade group.

One of the tests insurers generally don’t cover identifies which of three versions of the APOE gene someone carries. The APOE gene is associated with late-onset Alzheimer’s disease, and someone with two so-called “e4” versions of the gene is at higher risk of developing the disease.

“[The APOE test] is ordered fairly frequently, but we don’t pay for it,” says Cigna’s Finley. “It’s not enough for a test to be accurate and scientifically reliable, it has to benefit the patient. And with the APOE test I don’t think they’ve met those standards.”

This article was reprinted from kaiserhealthnews.org with permission from the Henry J. Kaiser Family Foundation. Kaiser Health News, an editorially independent news service, is a program of the Kaiser Family Foundation, a nonpartisan health care policy research organization unaffiliated with Kaiser Permanente.

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Twitter chat on pregnancy and childbirth with Group Health’s Dr. Jane Dimer, Tuesday, December 10

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hashtagJane Dimer, MD – an OB/GYN and chief of Women’s Services for Group Health – on Tuesday, Dec. 10 from 12-1 pm for an hour-long Twitter chat on pregnancy and childbirth. Dr. Dimer will be covering a variety of topics from getting pregnant to delivery, and answering your questions.

Topics will include:

  • Preparing your body for pregnancy
  • Nutrition
  • Is this normal?
  • Pregnancy myths
  • Making a birth plan
  • Delivery
  • Back to work/breastfeeding

When: Tuesday, Dec. 10 from 12-1 pm

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Lack of eye contact in early infancy may be sign of autism, study

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From the National Institutes of Health

Eye contact during early infancy may be a key to early identification of autism, according to a study funded by the National Institute of Mental Health (NIMH), part of the National Institutes of Health.

Published this week in the journal Nature, the study reveals the earliest sign of developing autism ever observed — a steady decline in attention to others’ eyes within the first two to six months of life.

“Autism isn’t usually diagnosed until after age 2, when delays in a child’s social behavior and language skills become apparent. This study shows that children exhibit clear signs of autism at a much younger age,” said Thomas R. Insel, M.D., director of NIMH. “The sooner we are able to identify early markers for autism, the more effective our treatment interventions can be.”

autism eye

Decline in eye fixation reveals signs of autism present already within the first 6 months of life. Data from a 6-month-old infant later diagnosed with autism are plotted in red.

Data from a typically developing 6-month-old are plotted in blue. The data show where the infants were looking while watching a video of a caregiver. Source: Warren Jones, Ph.D., Marcus Autism Center, Children’s Healthcare of Atlanta, and Emory University School of Medicine.

Typically developing children begin to focus on human faces within the first few hours of life, and they learn to pick up social cues by paying special attention to other people’s eyes.

Children with autism, however, do not exhibit this sort of interest in eye-looking. In fact, a lack of eye contact is one of the diagnostic features of the disorder.

To find out how this deficit in eye-looking emerges in children with autism, Warren Jones, Ph.D., and Ami Klin, Ph.D., of the Marcus Autism Center, Children’s Healthcare of Atlanta, and Emory University School of Medicine followed infants from birth to age 3.

The infants were divided into two groups, based on their risk for developing an autism spectrum disorder. Those in the high risk group had an older sibling already diagnosed with autism; those in the low risk group did not.

Jones and Klin used eye-tracking equipment to measure each child’s eye movements as they watched video scenes of a caregiver. The researchers calculated the percentage of time each child fixated on the caregiver’s eyes, mouth, and body, as well as the non-human spaces in the images. Children were tested at 10 different times between 2 and 24 months of age.

By age 3, some of the children — nearly all from the high risk group — had received a clinical diagnosis of an autism spectrum disorder. The researchers then reviewed the eye-tracking data to determine what factors differed between those children who received an autism diagnosis and those who did not.

“In infants later diagnosed with autism, we see a steady decline in how much they look at mom’s eyes,” said Jones. This drop in eye-looking began between two and six months and continued throughout the course of the study.

By 24 months, the children later diagnosed with autism focused on the caregiver’s eyes only about half as long as did their typically developing counterparts.

This decline in attention to others’ eyes was somewhat surprising to the researchers. In opposition to a long-standing theory in the field — that social behaviors are entirely absent in children with autism — these results suggest that social engagement skills are intact shortly after birth in children with autism. If clinicians can identify this sort of marker for autism in a young infant, interventions may be better able to keep the child’s social development on track.

“This insight, the preservation of some early eye-looking, is important,” explained Jones. “In the future, if we were able to use similar technologies to identify early signs of social disability, we could then consider interventions to build on that early eye-looking and help reduce some of the associated disabilities that often accompany autism.”

The next step for Jones and Klin is to translate this finding into a viable tool for use in the clinic. With support from the NIH Autism Centers of Excellence program, the research team has already started to extend this research by enrolling many more babies and their families into related long-term studies.

They also plan to examine additional markers for autism in infancy in order to give clinicians more tools for the early identification and treatment of autism.

Grant: R01MH083727

About the National Institute of Mental Health (NIMH): The mission of the NIMH is to transform the understanding and treatment of mental illnesses through basic and clinical research, paving the way for prevention, recovery, and care. For more information, visit http://www.nimh.nih.gov.

About the National Institutes of Health (NIH): NIH, the nation’s medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

NIH…Turning Discovery Into Health®

Reference

Jones W, Klin A. Attention to eyes is present but in decline in 2-6-month-old infants later diagnosed with autism. Nature, Nov. 6, 2013.

 

 

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Science on Stage: Staged readings of “The Sequence” by Seattle playwright Paul Mullin

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dna

Northwest Association for Biomedical Research and Seattle Public Theater will present ‘Science on Stage’ – staged readings with the director and cast of Seattle playwright Paul Mullin’s play ‘The Sequence.’

Bathhouse Theater at Green Lake with pre- or post-play discussions

Oct. 5 -   Saturday,   2pm          post-play discussion for NWABR members    - 3:45pm

Oct. 12 – Saturday,   2pm           post-play discussion for the public                   – 3:45pm

Oct. 13 - Sunday,     7pm           pre-play discussion for NWABR donors           – 6:00pm

Tickets:  $20 for NWABR members, $22 for all others, available online or at the door.

Play Synopsis:  Sequencing of the human genome was a public race – and a personal war!  Strong personalities, emerging technology and differing views on public vs. private DNA ownership fueled the race to obtain the first human DNA sequence.  Covering the story was a young journalist worried about her own destiny with breast cancer and the information that her genome sequence would uncover.

More information and online ticket information are available at http://nwabr.org/science-on-stage or contact Reitha Weeks at rweeks@nwabr.org for information about group sales.

Proceeds support NWABR programs.

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The $13 Test That Saved My Baby’s Life. Why Isn’t it Required For Every Newborn?

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by Michael Grabell
ProPublica

On July 10, my wife gave birth to a seemingly healthy baby boy with slate-blue eyes and peach-fuzz hair. The pregnancy was without complications. The delivery itself lasted all of 12 minutes. After a couple of days at Greenwich Hospital in Connecticut, we were packing up when a pediatric cardiologist came into the room.

We would not be going home, she told us. Our son had a narrowing of the aorta and would have to be transferred to the neonatal intensive care unit at NewYork-Presbyterian Hospital at Columbia, where he would need heart surgery.

It turned out that our son was among the first in Connecticut whose lives may have been saved by a new state law that requires all newborns to be screened for congenital heart defects.

It was just by chance that we were in Connecticut to begin with. We live in New York, where such tests will not be required until next year. But our doctors were affiliated with a hospital just over the border, where the law took effect Jan. 1.

As we later learned, congenital heart problems are the most common type of birth defect in the United States. The Centers for Disease Control and Prevention estimate that about one in 555 newborns have a critical congenital heart defect that usually requires surgery in the first year of life.

Many cases are caught in prenatal ultrasounds or routine newborn exams. But as many as 1,500 babies leave American hospitals each year with undetected critical congenital heart defects, the C.D.C. has estimated.

Typically, these babies turn blue and struggle to breathe within the first few weeks of life. They are taken to hospitals, often in poor condition, making it harder to operate on them.

By then, they may have suffered significant damage to the heart or brain. Researchers estimate that dozens of babies die each year because of undiagnosed heart problems.

The new screening is recommended by the United States Department of Health and Human Services, the American Heart Association and the American Academy of Pediatrics. Yet more than a dozen states — including populous ones like Massachusetts, Pennsylvania, Florida, Georgia, Wisconsin and Washington — do not yet require it.

The patchy adoption of the heart screening, known as the pulse oximetry test, highlights larger questions about public health and why good ideas in medicine take so long to spread and when we should legislate clinical practice.

Newborns are already screened for hearing loss and dozens of disorders using blood drawn from the heel. The heart test is even less invasive: light sensors attached to the hand and foot measure oxygen levels in the baby’s blood. This can cost as little as 52 cents per child.

Our son’s heart defect was a coarctation of the aorta, a narrowing of the body’s largest artery. This made it difficult for blood to reach the lower part of his body, which meant that the left side of his heart had to pump harder.

A: Coarctation (narrowing) of the aorta. 1:inferior caval vein, 2:right pulmonary veins, 3: right pulmonary artery, 4:superior caval vein, 5:left pulmonary artery, 6:left pulmonary veins, 7:right ventricle, 8:left ventricle, 9:main pulmonary artery, 10:Aorta.

A: Coarctation (narrowing) of the aorta. 1: inferior caval vein, 2: right pulmonary veins, 3: right pulmonary artery, 4: superior caval vein, 5: left pulmonary artery, 6:left pulmonary veins, 7: right ventricle, 8: left ventricle, 9: main pulmonary artery, 10: aorta. – Source: Wikipedia

In the hospital, though, he appeared completely healthy and normal because of an extra vessel that newborns have to help blood flow in utero. But that vessel closes shortly after birth, sometimes revealing hidden heart problems only after parents bring their babies home.

Depending on the heart defect, the onset of symptoms can be sudden.

This is what happened to Samantha Lyn Stone, who was born in Suffern, N.Y., in 2002. A photograph taken the day before she died shows a wide-eyed baby girl lying next to a stuffed giraffe. The next morning, her mother, Patti, told me, she was wiping Samantha’s face when she heard a gurgle from the baby’s chest.

Before her eyes, Samantha was turning blue. Blood began to spill from her mouth. Ms. Stone dialed 911, and minutes later, a doctor who heard the call over a radio was there performing CPR. Samantha went to one hospital and was flown to another.

But the damage was irreparable. Samantha had gone 45 minutes without oxygen: She lapsed into a coma and died six days later.

It wasn’t until several years later that Ms. Stone learned about the pulse oximetry test. “This could have saved my daughter,” she told me. “There is no parent that should ever have to go through what I went through.”

Pulse oximetry is not a costly, exotic procedure. Most hospitals already have oximeters and use them to monitor infants who suffer complications. You can buy one at Walmart for $29.88.

A recent study in New Jersey, the first state to implement the screening, estimated that the test cost $13.50 in equipment costs and nursing time. If hospitals use reusable sensors similar to those found on blood-pressure cuffs, the test could cost roughly fifty cents.

As medical technology advances, few screenings will be so cheap or simple. Recent years have seen controversy over prostate cancer and mammography screenings. Medical ethicists have to weigh the costs of each program and the agony caused by a false positive against the lives saved.

But with pulse oximetry, the false positive rate is less than 0.2 percent — lower than is seen for screenings newborns already get. The follow-up test is usually a noninvasive echocardiogram, or an ultrasound of the heart. A federal advisory committee came down in favor — three years ago.

“There’s really no question, scientifically, this is a good idea,” said Darshak Sanghavi, a pediatric cardiologist and a fellow at the Brookings Institution. “The issue is, how do we change culture?”

Opposition has taken two forms. One is from doctors who believe policy makers shouldn’t interfere with how medical professionals do their jobs. The other is from smaller hospitals, which worry about access to echocardiograms and the costs of unnecessary transfers.

These concerns can be addressed fairly easily. Nurses in New Jersey and elsewhere have been able to work the test into their normal routines. A rural hospital should already have a protocol to transfer a newborn in serious condition. If Alaska can do it, less remote states can, too.

But this is not simply a rural health care problem. Cardiologists and neonatologists I’ve spoken with said they knew of hospitals in New York City, Boston and metropolitan Atlanta that weren’t screening newborns for heart defects.

“It’s completely the luck of the draw of where you deliver,” said Annamarie Saarinen, who has pushed for the screening since her daughter narrowly avoided leaving the hospital with an undetected heart defect.

Fortunately, our son’s condition was also caught and corrected. The only lasting effects are a three-inch scar on his side and checkups with a cardiologist. He will live a normal life. He will be able to play sports and climb things he’s not supposed to.

Shouldn’t every baby have that chance?

Want to know more? Follow ProPublica on Facebook and Twitter, and get ProPublica headlines delivered by e-mail every day.

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Birth defects study in south central Wa finds no common causes, Department of Health

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From the Washington State Department of Health

Birth defects study in south central WA is inconclusive — no common causes

Magnifying GlassOLYMPIA - A state-led study into several cases of a rare birth defect in Yakima, Benton, and Franklin counties has revealed no common exposures, conditions, or causes.

State and local public health investigators found no significant differences between women who had healthy pregnancies and those affected by anencephaly, a rare neural tube defect.

Anencephaly is a fatal birth defect that results from incomplete formation of the brain during the first month of pregnancy. An unusually high number of anencephaly cases in Washington prompted the study, which was led by the state Department of Health in cooperation with local health officials and the Centers for Disease Control and Prevention.

Typically, one or two anencephaly cases would be expected in about 10,000 annual births. The investigation found about eight cases per 10,000 births in the three-county area of Yakima, Benton, and Franklin.

Anencephaly and a related spinal cord disorder known as spina bifida are often caused by a lack of the B-vitamin folic acid in the mother’s diet.

Other factors include certain medications, diabetes, pre-pregnancy obesity, or previously having a child with a neural tube defect.

The study examined medical records from January 2010 through January 2013 and looked at possible risk factors including family history, pre-pregnancy weight, health risk behaviors such as supplemental folic acid and medication use, and whether the woman’s residence received drinking water from a public or private source.

No significant differences were found when comparing cases of anencephaly with healthy births in the three county area. Although the number of affected pregnancies was large for this area, larger numbers are often needed to identify causes. Medical record reviews might not have captured all information, preventing a cause from being identified.

The higher than expected number of anencephaly births in the region could be coincidental. Still, state health officials will keep monitoring births in the region through 2013 to see if the elevated number of affected pregnancies continues and if more can be learned about causes.

State and local health officials say women of childbearing age should follow the U.S. Preventive Services Task Force recommendation of taking 400-1000 micrograms of folic acid daily, either from foods fortified with folic acid or a supplement.

They also advise seeing a health care professional when planning a pregnancy or as soon as pregnancy is recognized, and making sure to provide a list of all medications and nutritional supplements that are being used.

Women who are pregnant or planning pregnancy should be sure that drinking water from private wells is tested at least annually for nitrate and bacteria. If levels exceed standards, an alternate source of drinking water should be used.

More information on anencephaly is available on the Centers for Disease Control and Prevention Birth Defects website. Information on testing private well water is on the state Department of Health Drinking Water website.

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UW Medicine to “affiliate” with PeaceHealth – Seattle Times

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seattle-times-logo-squareUW Medicine and PeaceHealth have agreed to create a “strategic affiliation,” with details to be spelled out by the end of September, Seattle Times health write Carol Ostrom reports.

PeaceHealth, a not-for-profit system based in Clark County and founded by the Sisters of St. Joseph of Peace, operates nine hospitals and physician groups in Alaska, Washington and Oregon, and a Medicaid health plan.

Ostrom writes:

The two organizations said they will remain legally separate and independent, but critics of such affiliations noted that after Swedish Medical Center used such language in an affiliation with Providence Health & Services last year, it stopped doing elective abortions and closed its hospice service.

The U.S. Catholic Bishops’ Ethical and Religious Directives for Catholic Health Care Services restrict such services as abortion, birth control, sterilization and patients’ rights regarding end-of-life treatment.

Seattle Times staff columnist Danny Westneat questions the growing role of the Catholic church in healthcare in Washington state.

By the end of this year, half of our state’s medical system will be Catholic-run, as measured by number of hospital beds. That’s the highest share in the nation, and rising fast — up from about 30 percent just last year. Somehow our godless state has become Ground Zero for faith-based medicine.

He asks:

We’d never turn our education system over to one church to run. Why are we doing it with health care?

To learn more:

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C-Section rates vary widely across nation

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Cesarian_the_moment_of_birth_2

Courtesy of Salim Fadhley, Wikipedia

By Alvin Tran

Rates of C-section deliveries vary widely across the nation, according to the findings of a new study.

The study, published Monday in the journal Health Affairs, found that the overall rates of C-sections — the most common type of surgery in the U.S. — varied from about 7 to 70 percent  across the nation’s hospitals.

Researchers also found a wide variation in C-section deliveries even among women with lower-risk pregnancies, where rates varied from 2.4 to 36.5 percent. According to the study, cesarean deliveries are much more expensive than vaginal births.

“We were really surprised by how much variation we saw,” said Dr. Katy Kozhimannil, an assistant professor at the University of Minnesota’s School of Public Health and the study’s lead author. Kozhimannil said she and her colleagues expected the rates of cesarean births among lower-risk mothers to vary less compared to the overall rates.

The research team analyzed 2009 data from more than 1,000 hospitals in 44 states, taking patient characteristics into account as well as hospitals’ size, teaching status and geographic location.

The study’s findings suggest that small and rural hospitals showed more variability in C-section rates compared to other hospitals. Teaching hospitals, however, showed less variation in overall C-section rates.

Despite concerns about overuse of cesarean deliveries, Kozhimannil cautioned that some of these surgeries will always be necessary and researchers should be careful to not make doctors too uncomfortable about performing a cesarean.

“When you see variation in something, it could suggest overuse or either underuse. I think it’s important to look out for underuse as well,” Kozhimannil added. “Cesarean deliveries save lives and every woman who needs a cesarean delivery should have one.”

Dr. William Grobman, a spokesman for the American College of Obstetricians and Gynecologists and a professor in obstetrics and gynecology at the Feinberg School of Medicine at Northwestern University, said that it is important to “encourage deliveries that can be safely undertaken vaginally to occur and not to do unnecessary cesareans.”

In an interview, Grobman said the high number of cesarean deliveries has big consequences for health care costs and use and doctors consider different standards when weighing the procedure.

Though her study was unable to explain why the variation in cesarean deliveries exists, Kozhimannil is optimistic that future research — studies that analyze the financial and payment incentives in place for managing pregnancy care — may help answer the question.

“I think it is important to look beyond the woman and her characteristics and beyond the clinicians and their characteristics and really look at the system-level factors that are driving these variability and patterns in care,” she said.

The study makes four key recommendations, including better coordination among providers of maternity care to help reduce the need for C-sections and better data collection on the procedure.

The researchers also called for Medicaid, which funds nearly half of all U.S. births, to use its clout to help improve hospital obstetric practices.

And they suggested that new policies be implemented to empwer patients to help make decisions on their deliveries and to make data on the procedure more widely available.

“I think the fact that pregnant women cannot look up unbiased, easily available information on cesarean delivery rates in the hospitals from which they’re choosing is a problem that should be rectified,” Kozhimannil said.

This article was reprinted from kaiserhealthnews.org with permission from the Henry J. Kaiser Family Foundation. Kaiser Health News, an editorially independent news service, is a program of the Kaiser Family Foundation, a nonpartisan health care policy research organization unaffiliated with Kaiser Permanente.

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Blue Pregnant Belly

New prenatal blood tests raise hopes as well as questions

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By Rita Rubin

This story was produced in collaboration with wapo

When Ramona Burton became pregnant with her second child this year, the 37-year-old Upper Marlboro woman knew that her age put her baby at an elevated risk for Down syndrome, even though screening with ultrasound and standard blood tests raised no warning flags.

Burton and her husband didn’t want to risk amniocentesis, the gold standard for prenatal diagnosis, because it carries a small chance of miscarriage.

So when her doctor offered an alternative – a new test that requires only a sample of the mother’s blood – they leapt at it. In less than two weeks, they got the news: no Down syndrome. The baby, a boy, is due next month.

Three versions of this test, which can be performed as early as 10 weeks into a pregnancy, have come onto the market since December.

Tens of thousands of women have used them, according to the companies that sell the tests. But they are not subject to regulation by the Food and Drug Administration, and questions have been raised about a technology whose accuracy and role are still being assessed.

As a result, no major insurance company has yet agreed to cover the tests, whose list prices range up to $1,900.

New medical technologies often challenge a health-care industry grappling with pressures to control costs. It’s not yet clear whether the new tests will cut costs and miscarriages by reducing invasive prenatal diagnostic procedures such as amniocentesis or inflate costs because they’re used by women who probably would never have opted for amnio because of miscarriage fears.

(The established tests are performed about 200,000 times annually in the United States and cost roughly $2,500 in the Washington, D.C. area.)

More is not better

So far, major insurance companies, citing limited studies about the tests’ accuracy and impact on patient care, consider them to be experimental and do not cover them.

With the new tests, fragments of fetal DNA extracted from the mother’s blood sample are checked for increased amounts of material from chromosomes 21, 18 and 13, a sign that the fetus carries three instead of the normal two copies of those chromosomes.

In this case, more is not better. Having an extra copy of 21, a condition called trisomy 21, is the main cause of Down syndrome, while having a third copy of 18, a condition called trisomy 18, causes a less common disorder named Edwards syndrome. Trisomy 13 is also known as Patau syndrome. All three conditions are linked to serious developmental and medical problems.

Standard first-trimester screening for these genetic conditions can be performed as early as 11 weeks’ gestation. It consists of a blood test to check levels of pregnancy-associated proteins and hormones in the mother’s blood and an ultrasound to look for extra fluid under the skin at the back of the fetus’s neck. The results are usually available within a week.

Used together, the standard blood tests and ultrasound can detect about 90 percent of Down syndrome cases and an even greater proportion of trisomies 18 and 13. But there’s a false-positive rate of about 5 percent, and only amniocentesis or the much less commonly used chorionic villus sampling, another invasive test that can cause miscarriage, can provide a definitive answer.

The new blood tests that assess fetal DNA rather than maternal blood perform better than standard screening, says Tufts scientist Diana Bianchi, whose research helped lay the groundwork for them. Bianchi sits on the scientific advisory board of Verinata Health, which launched its test, called Verifi, in March. “The problem is they’re more expensive, so they can’t be a primary screen,” she says.

The tests generally are offered only to women whose age, family history or standard screening put their fetus at a higher risk of having a chromosome abnormality – not to all women, as the standard screening tests are.

So far, major insurance companies, citing limited studies about the tests’ accuracy and impact on patient care, consider them to be experimental and do not cover them.

(Sequenom, the marketer of the MaterniT 21 Plus test, asserted this month that 15 percent of the U.S. population is covered by plans that will pay for the test, though it did not identify those plans.)

A diagram showing the chromosomal rearrangement that causes Down's syndrome.

A diagram showing the chromosomal rearrangement on chromosome 21 that causes Down syndrome.

The American College of Obstetricians and Gynecologists published its first opinion on the tests Nov. 20 and concluded they “should not be part of routine prenatal laboratory assessment.”

However, ACOG said, the tests can be offered to patients at increased risk of having a baby with a trisomy, as long as they are counseled beforehand about the tests’ limitations.

Previously, the National Society of Genetic Counselors and the International Society for Prenatal Diagnosis reached similar conclusions.

Because research has not yet proved that the new tests are as accurate as the standard invasive tests, all three organizations recommend that women with a positive result undergo amniocentesis or chorionic villus sampling to be sure.

“We clearly take ACOG’s opinion into consideration as we evaluate coverage policy,” says Julie Kessel, senior medical director of Cigna’s coverage policy unit.

But, she adds, “it’s not a clear endorsement.”

Cigna typically reviews coverage of technologies annually, unless a “sentinel event,” such as firm new guidelines about their use, suggests the company needs to take another look sooner, Kessel says.

The ACOG opinion is not such an event, she says, so the company likely won’t revisit the blood tests until July.

Aetna spokeswoman Tammy Arnold says her company is awaiting the results of more research into the tests’ accuracy and how testing affects women’s decisions about amniocentesis.

Once studies of patients prove that the tests add value, Arnold says, “cost savings to the health-care system would be a welcomed bonus.”

Women are asking for the tests right now, however. “I don’t think anybody really anticipated that the consumers would drive this as much as they’re doing,” Bianchi says.

For now at least, the companies that market the new tests appear to be eating much of the cost. For example, the most that women with insurance have to pay out of pocket is $235 for the MaterniT21 Plus test (list price $1,900) and $200 for Verifi (list price $1,200), even if their plan declines to cover the test.

Both companies offer self-pay options for women without insurance: The price is $450 to $500 for MaterniT21 Plus and an “introductory price” of $495 for Verifi.

Jeffrey Spencer, Ramona Burton’s OB-GYN at the Anne Arundel Medical Center in Annapolis, says that although questions remain about how best to use the tests, he needs to make his patients aware of them. “It’s so new we’re not sure the best way to do it. I feel I have an ethical obligation to make patients aware of the option.”

(Spencer says he is a member of the speakers’ bureau of Sequenom, which markets the MaterniT21 Plus test, and is paid a fee when he speaks at the company’s request.)

Burton is one of several hundred higher-risk patients in his practice who have opted for MaterniT 21 Plus, Spencer says.

Mark Evans, a Manhattan OB-GYN, says his patients want to skip the standard screening tests and go right to the new tests.

“My patients are the average New Yorkers,” he says, “who want their answers yesterday.”

This article was reprinted from kaiserhealthnews.org with permission from the Henry J. Kaiser Family Foundation. Kaiser Health News, an editorially independent news service, is a program of the Kaiser Family Foundation, a nonpartisan health care policy research organization unaffiliated with Kaiser Permanente.

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What you need to know about your kidneys, chronic kidney disease and its prevention

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By Vilma Quijada, MD
Valley Medical Center, Nephrology Services

The incidence of chronic kidney disease (CKD) in our country has increased significantly over the past 20 years.

In analyzing national data from NHANES (National Health and Nutritional Examination Survey), the Centers for Disease Control (CDC) indicates that 16.4% of the population age 20 years and older have this condition.

The incidence of obesity and diabetes has also increased in what seems to be epidemic proportions during this same period. Is there a connection?

First: What is the function of our kidneys?

Before I discuss CKD it’s important to understand what our kidneys do in our bodies. You might know that kidneys filter waste products and excess fluid out of our blood and eliminate them as urine.

What you probably don’t know is that our kidneys filter 172 liters (over 45 gallons) of blood each day. Our bodies contain about 5 liters (1.3 gallons) of blood that circulates through the kidneys at a rate of 120 ml (about ½ cup) per minute.

Another important function of the kidneys is they help to regulate our electrolyte* levels by filtering out excess minerals and keeping a very tight balance of the most important ones, including potassium and sodium.

In addition, the kidneys produce several very important hormones, including erythropoietin (also called EPO), that stimulate your bone marrow to produce red blood cells** and calcitriol, the most active form of vitamin D.

What is chronic kidney disease and what causes it?

When our kidneys become damaged as a consequence of chronic inflammation, infections, exposure to toxins, excessive use of non-steroidal anti-inflammatory drugs (over the counter pain medications), illicit drug use, or from a genetic condition, we call this chronic kidney disease.

The two most prevalent causes of CKD are thought to be diabetes (Type I and Type II) and high blood pressure. CKD can also be a strong indicator of vascular disease.

It has been reported that amongst people with kidney disease, it’s likely that more than 80% may die of serious complications such as stroke or heart attack without even knowing their kidneys are damaged.

This is unfortunate because the diagnosis is relatively simple:  A blood test for creatinine (a naturally occurring substance in our blood) and a urine test to detect proteins is all that is needed to evaluate the presence and severity of kidney disease.

You’ve been diagnosed with chronic kidney disease – how can you prevent its progression?

When faced with a diagnosis of CKD, people often and understandably feel overwhelmed because it can lead to end-stage renal failure requiring dialysis or a kidney transplant for the patient to survive.

But it’s very important to remember that there are ways to prevent the progression of CKD once an initial diagnosis has been made:

  • Maintain a healthy weight to avoid obesity-related diabetes (Type II)
  • Treat hypertension (high blood pressure)
  • Avoid cigarette smoking
  • Avoid excessive use of anti-inflammatory drugs (over-the-counter drugs with analgesic and fever-reducing effects such as aspirin, ibuprofen and naproxen)
  • Avoid excessive use of alcohol
  • Avoid using illicit drugs
  • Keep your cholesterol low
  • Stay physically active and well hydrated

It’s important to note that no matter what stage your CKD has progressed to, short of renal failure, these simple preventive steps can help significantly.

Genetic kidney disease

Some causes of CKD, such as genetic or familial causes, we unfortunately cannot control. However, keeping healthy habits will make a big difference between a rapid or slow decline of kidney function.

If you have a family history of kidney disease, diabetes or hypertension, consult with your doctor. They can order tests that will gauge whether or not you have healthy kidneys. Use this information as a platform to educate yourself and to take charge of the long-term health of your kidneys.

*Electrolytes are essential minerals in your body that are necessary for nerve and muscle function, the body-fluid balance, and other critical processes.

**A single drop of blood contains millions of red blood cells which are constantly traveling through your body delivering oxygen and removing waste. Without red blood cells performing this function, your body would slowly die. 

About Dr. Quijada

Dr. Vilma Quijada is board certified in both Nephrology and Internal Medicine, and practices in VMC’s Nephrology Clinic in Kent (nephrology concerns the diagnosis and treatment of kidney diseases). She is also the Medical Director of the Renton Kidney Center. Originally from Panama, Dr. Quijada graduated from the University of Panama in 1977 and has been practicing in Nephrology since 1983. When she came to the U.S. in the late 1980s she trained in Internal Medicine and Nephrology at Georgetown University in Washington DC. Dr. Quijada is a Fellow of the American Society of Nephrology (FASN) and also holds “Hypertension Specialist” certification from the American Society of Hypertension. Passionate about helping people, Dr. Quijada truly loves educating her patients in a way that is meaningful to them. Married with two children and one grand-daughter that she is crazy about, Dr. Quijada enjoys hiking, sailing, and reading mysteries. And, she says, “I just love the rain.”

Nephrology Services is located at 24920 104th Ave SE in Kent. Phone: 425.227.0231

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Books

Good Reads on the Web: From womb to tomb and other stories.

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By Shefali S. Kulkarni
KHN Reporter 

Every week, KHN reporter Shefali S. Kulkarni selects interesting reading from around the Web.

New York Magazine: A Life Worth Ending

Detail from a painting by Ambrogio Lorenzetti showing Temperance contemplating an hour glass.I will tell you, what I feel most intensely when I sit by my mother’s bed is a crushing sense of guilt for keeping her alive. Who can accept such suffering—who can so conscientiously facilitate it? … In 1990, there were slightly more than 3 million Americans over the age of 85. Now there are almost 6 million. By 2050 there will be 19 million—approaching 5 percent of the population. … By promoting longevity and technologically inhibiting death, we have created a new biological status held by an ever-growing part of the nation, a no-exit state that persists longer and longer, one that is nearly as remote from life as death, but which, unlike death, requires vast service, indentured servitude really, and resources. … The longer you live the longer it will take to die (Michael Wolff, 5/20).

CNN: Cost Of Children’s Health Care Hitting Families Harder

[Heather Bixler] was leaving her New York apartment with her 4-year-old daughter and infant son, who was in a baby carriage. … The doorman, perhaps just to play around, picked up the stroller and held it almost vertical. Sean, the baby, fell out. His head bashed against the marble stair. … Two years ago, the seizures started. So did the never-ending medical expenses. The Bixler family is just one example of how a child’s chronic illness can strain a family emotionally and financially — and children represent the fastest growing health care spending group in America, according to a new report (Elizabeth Landau, 5/21).

Time Magazine: Why Some Medical Students Are Learning Their Cadavers’ Names

At Indiana University Northwest, an IU branch campus located in Gary, Ind., anatomy professor Ernest Talarico instructs his medical students to probe beyond the nerves and muscles of the bodies lying on their examination tables and think of the cadavers as their “first patients.” … His students also typically exchange letters with family members to glean more information about their patients’ medical histories, hobbies and interests. … While Talarico has won praise from many of the individuals involved in the program, he’s also raised concerns among critics who question the ethics of his teaching technique (Dina Fine Maron, 5/17).

PBS NewsHour: Baby’s Tumor Means Surgery Before Birth

Before Cami was born, a huge tumor began growing from her lower body and injured her hips and internal organs. To save her life, doctors had to operate on Cami en utero, half her body still inside a special incision in her mother Tami Dobrinski’s womb. … Cami’s tumor, called a sacrococcygeal teratoma, is just one example of an uncommon category of tumors and cancerous growths that can occur in unborn children — a teratoma like hers occurs in only one in 35,000 infants. … hospitals that don’t specialize in fetal care are not always familiar with all the possible treatments for rare conditions (Monty Tayloe, 5/18).

ABC News: Truvada Helps Couple Cope With Reality of Love and HIV

Nick Literski, 45, and Wes Tibbett, 39, have been together for six years, and their bond is strong. But when Tibbett was diagnosed with HIV in 2009, it was a major blow to the Seattle couple. Tibbett became terrified of giving the virus to Literski. … According to the U.S. Center for Disease Control and Prevention, correct and consistent condom use greatly reduces the risk of HIV transmission. So does being in a monogamous, long-term relationship. But Tibbett and Literski still worried. Then both men started taking a daily pill, Truvada (Carrie Gainn, 5/21).


This article was reprinted from kaiserhealthnews.org with permission from the Henry J. Kaiser Family Foundation. Kaiser Health News, an editorially independent news service, is a program of the Kaiser Family Foundation, a nonpartisan health care policy research organization unaffiliated with Kaiser Permanente.

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Premature infant's tiny hand being held

More than one in ten U.S. babies born prematurely

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By Julie Appleby
KHN staff writer

The United States has a higher rate of babies born too early – and therefore at greater risk of death or health problems – than more than 125 other countries, including Rwanda, Uzbekistan, China and Latvia, according to a report out today.

About 12 percent of U.S. babies are born at 37 weeks or less, according to the report, which found a worldwide range of as few as 4.1 percent of babies in Belarus to as many as 18 percent in Malawi. Full term is considered 39 weeks.

Click to view interactive map and charts

While nearly two thirds of all pre-term births worldwide occur in Sub-Saharan African and Asia, the U.S. rate shows that “this is not just a developing country issue,” says Chris Howson, vice president for global programs at the March of Dimes.

His organization, along with the World Health Organization, Save the Children and the Partnership for Maternal, Newborn & Child Health, produced the report. It says about one million pre-term babies worldwide die shortly after birth, while others can suffer lifelong health problems.

Born Too Soon is a joint effort of almost 50 organizations, including the Global Alliance to Prevent Prematurity and Stillbirth (GAPPS), an initiative of Seattle Children’s.

“This report sounds the alarm that prematurity is an enormous global health problem that urgently demands more research and resources,” said Craig Rubens, MD, PhD, executive director of GAPPS and contributor to the report.

“Even if every known intervention was implemented around the world, we would still see 13.8 million preterm births each year; we could only prevent 8 percent,” he said.

Maternal risk factors include being under- or over-weight, having diabetes or high blood pressure, smoking, being younger than 17 or over age 40.

Rates within countries can vary widely. In the U.S., for example, the pre-term birth rate for white women in 2009 was 10.9 percent, compared with 17.5 percent for African American women, the report says.

In the U.S. and some other developed countries, pre-term births are also linked with a higher use of fertility drugs, which are associated with mothers carrying twins, triplets or more, increasing the chance of early labor. Some births in the U.S. are also induced early, either because the mother is having health problems or for the convenience of the doctor or mother.

Because pre-term births are costly and dangerous, physician groups, organizations like the March of Dimes and even some employers have ongoing efforts to discourage women and their doctors from scheduling births before 39 weeks, unless there is a health reason to do so. The Obama administration launched a $40 million program in February aimed at reducing the number of premature births, especially elective deliveries.

Those elective early births are also the subject of a March of Dimes education campaign, which says even though the absolute numbers are small, the risk of death for babies born just one to two weeks early is twice as high as for those born at 39 weeks.

Howson says the groups that signed on to the report have made a variety of suggestions for lowering the rate worldwide, ranging from inexpensive injections that can be given to mothers in preterm labor to help develop fetal lungs to encouraging women to have health exams before they get pregnant to check for risk factors.

“A preterm baby indicates a failure in the system,” he says.

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This article was reprinted from kaiserhealthnews.org with permission from the Henry J. Kaiser Family Foundation. Kaiser Health News, an editorially independent news service, is a program of the Kaiser Family Foundation, a nonpartisan health care policy research organization unaffiliated with Kaiser Permanente.

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Seattle Children’s opens biobank for pregnancy research

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Blood, placenta tissue and other specimens will be saved.

A Seattle Children’s project to reduce premature births and still births opens a new facility today to store tissue from pregnant women that researchers from around the world can use to study both normal and abnormal pregnancies.

The biorepository will be run by the medical center’s Global Alliance to Prevent Prematurity and Stillbrith (GAPPS).

Specimens stored at the facility will include maternal blood and urine, cervical vaginal swabs, placenta tissue, and cord blood.

Samples will are collected from the first trimester through the postpartum period.

The specimens will be linked with information about the mothers’ preconception history, course of her current pregnancy, environmental exposures, medical and reproductive history, mental health, nutritional intake, and behaviors.

Participation is voluntary, and the identity of participating mothers is kept confidential with the specimens being identified only by number.

“While pregnancy specimen biobanks have been developed before, this is the first time that specimens paired with information about mothers and their pregnancies have been made widely accessible,” said Dr. Craig Rubens, executive director of GAPPS.

The repository currently has more than 8,000 individual specimens available to scientists, with 800-900 specimens being added each month.

The collection includes contributions from women representing a wide range of racial, ethnic, regional, and socioeconomic backgrounds.

Among the goasl of the GAPPS Repository project are to:

  • Help researchers discover biomarkers and create screening tools to identify women and babies at risk for preterm birth and stillbirth
  • Use those findings to develop diagnostic tests, treatments, and prevention strategies
  • And to support research to identify the causes of poor birth outcomes and the fetal origin of adult diseases in the hope of developing cures.

“Many adult health problems can be traced to fetal development,” Dr. Rubens said. “With these specimens, researchers can begin to understand what causes adverse pregnancy outcomes, and develop novel interventions to prevent them.”

To learn more:

  • Go to the GAPPS Flickr page to see more photos of the repository.
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