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Prenatal testing curbs some genetic diseases
Feb 18th
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.
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.
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.
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.
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.
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.
Source
Army General Makes Pregnancy Punishable Offense in Iraq
Dec 21st
A high-ranking Army official's new policy making pregnancy among troops in Iraq an offense punishable by court-martial is raising eyebrows even though experts say he is well within his rights to do so.
According to the Nov. 4 general order of Maj. Gen. Anthony Cucolo III, a commander in northern Iraq, the punishment would apply not only to the female soldiers who become pregnant, but also to the male soldiers who impregnate them, even if the couple is married.
Cucolo told ABC News that the policy, believed to be the first of its kind, was necessary to avoid losing valuable troops in his 22,000-member command.
"I need every soldier I've got, especially since we are facing a drawdown of forces during our mission. Anyone who leaves this fight earlier than the expected 12-month deployment creates a burden on their teammates," he said in a statement.
"Anyone who leaves this fight early because they made a personal choice that changed their medical status -- or contributes to doing that to another -- is not in keeping with a key element of our ethos, 'I will always place the mission first,' or three of our seven core values: loyalty, duty and selfless service," he continued. "And I believe there should be negative consequences for making that personal choice. "
The pregnancy policy is just one provision in a larger general order which also prohibits soldiers from sexual contact with Iraqis or third-party nationals who are not members of coalition forces.
Provisions in the Nov. 4 order are also applicable to civilians under Cucolo's command.
"I do not expect those who have never served in the military to completely understand what I have tried to explain above," Cucolo wrote. "Recently I was asked, 'Don't you think you are treading on an intensely personal topic?' As intensely personal as this topic might be, leaving those who depend on you shorthanded in a combat zone gets to be personal for those left, too."
John Hutson, a former longtime military judge advocate and currently the president and dean of Franklin Pierce Law School in New Hampshire, said it's well within Cucolo's rights to hand down such an order, especially if pregnancy has become a serious issue within his ranks.
When a woman becomes pregnant, "you've taken somebody and you've made her less effective," he said. "And I think its only fair that if you do that with the woman than the man be held equally culpable."
"It's not saying you can't have sex," Hutson said. "You have to take precautions."
Still, he added, "in some respects, it flies in the face of family values."
Also, soldiers found to be pregnant are sent back to the U.S. in short order and Kastl said he has heard anecdotal evidence of female soldiers intentionally getting pregnant to be sent home.
Because of that, he said, "I can see why they're doing it."
Kastl noted that the Army already encourages its female soldiers to take medication to stop their menstrual cycle. And in some cases, Cucolo's order may be redundant since the Army already prohibits fraternization between superiors and subordinates, though it seemingly has no current take on sexual contact between members of the same rank.
But Hutson worried that Cucolo's policy could cause an increase in abortions overseas. And since military hospitals do not perform such procedures, female officers may find abortions are available not "in the way you want them," Hutson said, forcing women to potentially dangerous providers of such services.
Kastl theorized that the punishment handed down to those who violate Cucolo's order would likely be handled as a violation of Article 91, or violation of a general order, which is punishable by up to one or two years in prison.
But he said it's unlikely the Army would actually keep an expectant mother or father behind bars for that length of time.
Source
MRI Can Rule Out Risky Placental Disorder
Dec 2nd
MRI may be effective at ruling out placenta accreta, a potentially life-threatening complication of pregnancy, researchers say.
The test correctly identified 88% of positive cases and 96% of negative cases in about 70 high-risk women, Michele A. Browne, MD, of the University of California San Diego, reported at the Radiological Society of North America meeting.
"MRI is a useful and accurate adjunct to ultrasound for diagnosis of placenta accreta," Brown said. "Women at high risk for placenta accreta, such as those who've had multiple cesarean sections, should undergo ultrasound. And if ultrasound is inconclusive, MRI should be considered."
Placenta accreta is an abnormal attachment of the placenta with invasion into the wall of the uterus. Brown said it usually requires a hysterectomy, and maternal death occurs in 7% of cases.
The incidence of the condition has increased at least 10 times over the last six decades, from about one in 30,000 births in 1950 to one in 2,500, or as frequently as one in 533 births now, according to different estimates.
Browne said this is likely the result of more frequent cesarean sections, because scar tissue in the uterus interferes with a specific layer of the endometrium that involves placental attachment.
Other risk factors involve any kind of uterine surgery, including abortion, as well as maternal age over 35, both of which have increased substantially over the last 60 years.
To measure the efficacy of MRI for detection of placental accreta, the researchers looked at 108 patients who'd had an MRI at their imaging center between 1992 and 2009 and who were suspected to have the condition.
Outcome results were available for 71 of those women.
Overall, Browne said, the accuracy of MRI was 90.1%.
"Early, accurate diagnosis is very important for this condition because it allows for delivery planning, which improves outcome," Browne said.
That includes a scheduled delivery at 36 to 37 weeks and arrangements for sufficient blood products to be on hand because of high blood loss associated with the condition.
Browne noted that after birth, a cesarean-hysterectomy is usually performed because trying to separate the placenta carries a high risk of complications.
Source
Many Pregnant Women Take Drugs Harmful to Baby
Nov 30th
With the help of their doctors, women planning to become pregnant should take an inventory of the medications they take, researchers from Canada advise.
In a study, they found that many pregnant women still take medications long known to cause birth defects.
Some medications with known fetal risk, such as drugs that control epilepsy, are essential during pregnancy, Dr. Anick Berard, at the University of Montreal in Quebec, noted in an email correspondence to Reuters Health.
Other medications, such as those that treat severe acne, anxiety and psychiatric drugs, antibiotics, and many drugs prescribed for heart disease and medical conditions, "can and should be avoided," according to Berard.
Women should understand the side effects of any drug they are taking -- especially drugs treating a chronic condition -- and plan pregnancies to avoid or minimize risks such drugs pose to babies, Berard added.
For the 5 years between January 1998 and the last day of 2002, Berard and colleagues analyzed the prescriptions filled by pregnant women for drugs available at the time and known to pose fetal risks.
Their report, in BJOG: An International Journal of Obstetrics and Gynecology, shows 56 percent of 109,344 pregnant women filled at least one medication prescription. A total of 6.3 percent (6,871 women) did so for at least one medication known to pose a risk to the fetus.
"These pregnancies were associated with an elevated number of (pregnancy terminations) and babies born with major (birth defects) in comparison with the expected numbers in the population," they note.
Specifically, terminations occurred in 47 percent of the pregnancies exposed to drugs with known fetal risks. Six percent of these pregnancies ended in miscarriage.
By contrast, in the much larger non-exposed group about 36 percent of the pregnancies had been terminated and fewer than 5 percent ended in miscarriage.
Berard's team further identified birth defects in 8.2 percent of 2,842 infants exposed to risky drugs during gestation and available for assessment, compared with 7.1 percent of the 59,287 infants not exposed. This is "a statistically significant difference," they note.
They emphasize, however, that it cannot be concluded that the drug exposure caused the birth defects. These pregnancies may have also been exposed to other harmful agents or maternal health conditions, they point out.
Source