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Genetics, Parenting, Pregnancy, Stanford News, Women's Health

What’s in YOUR blood? A simple blood test may change the face of prenatal care

What's in YOUR blood? A simple blood test may change the face of prenatal care

SM egg2I love my kids. Really, I do. But I’m afraid that I may come across as a bit of a curmudgeon to my friends, family and even my regular readers when I write about the day-to-day life as a parent of three busy kids. Take this excerpt from my most recent contribution to our current issue of Stanford Medicine:

Most woman who have been pregnant are familiar with how the growing fetus takes over the mother’s body — slowly, at first, and then with increasing ferocity as bladder and lungs and belly are stretched and pounded. The process is quite humbling.

So when I learned that up to 10 percent of free-floating genetic material in a mother’s blood actually comes from the fetus, I rolled my eyes and snorted. First my body, and then my blood? Does the indignity never end?

Ok, maybe I *am* a bit of a sourpuss sometimes. Because it turns out that this genetic material allows us to learn some amazing things about that person-to-be. It’s now possible to deduce the entire genome of a fetus from a pregnant woman’s blood sample, for example. And although we’re nowhere near offering that service routinely (and there’s a robust conversation to be had around the use of such information in a healthy pregnancy), we can use a similar approach to screen for some common genetic anomalies with no risk to the fetus. As I describe in the article, the new, noninvasive blood test:

… can identify about 99 percent of Down syndrome cases as early as 10 weeks of pregnancy. False-positive rates reported by the companies hover at around 0.1 percent for detecting Down syndrome, and false negatives for the condition appear to be even more rare.

The article was fascinating to research and to write, and it illustrates some of the challenges of integrating new technological advances with routine prenatal care. Who should be offered the test? How shall women be counseled about the results? What diseases can we (or should we) detect? One thing is clear. Things have changed since my pregnancies. And regardless of my apparently verbal, or literary, stick-shaking, I’m truly glad that my children will have access to these advances in prenatal care when they start families of their own. You know. A long, LONG time from now.

Previously: From womb to world: Stanford Medicine Magazine explores new work on having a baby, Whole-genome fetal sequencing recognized as one of the year’s “10 Breakthrough Technologies” and New techniques to diagnose disease in a fetus
Illustration by Christopher Silas Neal

Emergency Medicine, Health Policy, Imaging, Pregnancy, Research, Stanford News

Studying the best approach to diagnosing appendicitis in pregnant women

Studying the best approach to diagnosing appendicitis in pregnant women

OLYMPUS DIGITAL CAMERAWhen it comes to pregnant women, managing abdominal pain and diagnosing appendicitis can be a tricky proposition for doctors. Current practice includes an ultrasound followed by further imaging if the diagnosis remains unclear, but some providers and patients are hesitant to use one common imaging tool – a CT scan. That’s because of its use of radiation, and its possible risk to the fetus.

Zachary Kastenberg, MD, is a general surgery resident at Stanford and reports that he and his colleagues encounter this issue relatively frequently in the emergency department. “We often find ourselves guiding expecting mothers and fathers through difficult, anxiety-provoking decisions with minimal evidence to support differing practitioner perspectives,” he recently told me, noting that acute appendicitis is the most common cause of non-obstetric surgery in pregnant women.

Kastenberg said he wanted to help “influence the management and diagnosis of abdominal pain in pregnant women and to inform practitioners regarding the relative risks of abdominal imaging and fetal radiation during pregnancy.” And so he and colleagues performed a comprehensive cost-effectiveness analysis of the diagnostic strategies for appendicitis during pregnancy. Using a computer-based model, the researchers examined the costs and short- and long-term risks of the interventions, and various quality-of-life measures across the lifetime of a cohort of 25-year-old mothers-to-be and their fetuses.

What the researchers found was that in the vast majority of cases, preoperative imaging is the most prudent choice for managing pregnant women with suspected appendicitis. They also determined that magnetic resonance imaging (MRI) – which doesn’t involve radiation – is the most cost-effective diagnostic strategy, and that CT – even when taking into consideration the potential risks of radiation-associated childhood cancer – is a cost-effective option when MRI isn’t available. The latter finding is particularly important for those hospitals (usually smaller or rural ones) that don’t have an MRI machine or access to skilled MRI interpretation at night or on weekends.

Kastenberg acknowledged that patients may still experience anxiety associated with radiation exposure. But he says he hopes the analysis “will give physicians the confidence to guide patients through an educated discussion of the risks and benefits of preoperative imaging, including CT, when confronted with this difficult clinical situation.”

Kastenberg is a post-doctoral fellow in Stanford’s Center for Health Policy and the Center for Primary Care and Outcomes Research. The research appears in the October issue of the Journal of Obstetrics and Gynecology.

Photo by Daquella Manera

Patient Care, Pediatrics, Pregnancy, Research, Stanford News, Women's Health

From womb to world: Stanford Medicine Magazine explores new work on having a baby

From womb to world: Stanford Medicine Magazine explores new work on having a baby

coverIt’s a hard knock life for a fetus – and sometimes the mom. Research and technologies have allowed us to see inside the womb, learn about developing health risks and make informed decisions about care for the littlest of patients. But some medical problems associated with pregnancy and birth – such as placenta accreta, when the placenta attaches to the uterus – still pose great risks to mother and child.

The new issue of Stanford Medicine, produced with the support of Lucile Packard Children’s Hospital, tells the age-old story of childbirth in modern medicine’s terms, exploring some of what recent research has unveiled, and which problems still capture the attention of medical researchers and technologists. In her story on placenta accreta, Erin Digitale writes:

Before her third son was born in 2010, Maya Adam [MD] had to face a possibility modern medicine has made almost obsolete: She could bleed to death before or during delivery. A rare defect in her placenta left both Adam and her fetus vulnerable to sudden, fatal hemorrhage.

“We made a video for our two older boys in case they needed it as their final memory,” Adam says, recalling the compilation of family photos and video that she and her husband, Lawrence Seeff, assembled for sons Kiran, then 5, and Misha, then 2, near the end of her pregnancy.

The rest of Adam’s story, and more on the condition, is featured in the magazine along with:

  • Changing expectations“: A piece on what makes successful births possible despite what most would consider hopeless circumstances, with the focus on the birth of a child with a severe heart defect.
  • Gone too soon“: A look at why the U.S. infant mortality rate is so high relative to other industrialized nations.
  • Labor Day“: An article explaining the rise of C-sections, and why a decrease in how often the procedure is performed should be around the corner.
  • The children’s defender“: A Q&A with Marian Wright Edelman, one of the world’s leading defenders of children’s rights.
  • Hello in there“: A report on advances in prenatal testing, which can now reveal abundant details about a developing baby’s biology – all based on a few drops of mom’s blood.
  • Web extra“: An interactive simulation on the magazine’s website that allows you to observe and control the development of the placenta – and see what can go wrong. Producer David Sarno built this “journey through the placenta” using the tools of modern video game design.

In addition to the “Life begins” package, this issue of the magazine includes a feature on the creation of a computer made of biological molecules that can run inside our cells, and a report on a search for hope in one of the hardest places in America to stay healthy — the Rosebud Indian Reservation in South Dakota.

Previously: Touchable journalism technology helps to teach medicine, Factoring in the environment: A report from Stanford Medicine magazineNew issue of Stanford Medicine magazine asks, What do we know about blood?, The money crunch: Stanford Medicine magazine’s new special report and Program focuses on the treatment of placental disorders

Ask Stanford Med, Fertility, Pregnancy, Stanford News, Women's Health

Five million babies and counting: Stanford expert offers conversation on reproductive medicine

Five million babies and counting: Stanford expert offers conversation on reproductive medicine

newbornEarlier this week, an international group announced that reproductive medicine techniques, such as in vitro fertilization, have led to the birth of 5 million babies since 1978. “This is a great medical success story,” a member of the International Committee for the Monitoring of Assisted Reproductive Technology said in a statement, pointing out that the number of these babies equals the population of the state of Colorado.

At Stanford, Valerie Baker, MD, heads up the academic division that focuses on reproductive medicine. From now until Monday evening, she’s taking questions on the topic, as well as on infertility in general. Readers can share what’s on their mind with her in the comments section of this blog entry or by sending a tweet that includes the hashtag #AskSUMed.

Previously: Ask Stanford Med: Expert in reproductive medicine taking questions on infertility, Oh, baby! Infertile woman gives birth through Stanford-developed technique, Stanford researchers work to increase the odds of in vitro fertilization success, Sex without babies, and vice versa: Stanford panel explores issues surrounding reproductive technologies and New test predicts the success of IVF treatment
Photo by Emery Co Photo

Ask Stanford Med, Fertility, Men's Health, Pregnancy, Stanford News, Women's Health

Ask Stanford Med: Expert in reproductive medicine taking questions on infertility

Ask Stanford Med: Expert in reproductive medicine taking questions on infertility

4223909842_e028c12f28An estimated 10 to 15 percent of couples in the United States are infertile. One or a number of factors may render a couple unable to conceive, including hormone imbalances or blockages of sperm movement in men, and ovulation problems arising from a variety of causes in women. Those who turn to fertility treatments, a recent study showed, can expect to pay more than $5,000 out of pocket on average, or upwards of $19,000 for in vitro fertilization (IVF).

Strides in research to overcome barriers to conception have included a recent Stanford-developed technique to promote egg growth in infertile women who have experienced early menopause. Senior author Aaron Hsueh, PhD, professor of obstetrics and gynecology at Stanford, collaborated with scientists here and at the St. Marianna University School of Medicine in Kawasaki, Japan on a procedure known as “in virto activation,” in which a portion of a woman’s ovary is removed, treated outside the body, and then returned near her fallopian tubes. Through this specialized structure, a participant in the study recently gave birth.

For this edition of Ask Stanford Med, we’ve asked Valerie Baker, MD, to respond to your questions about infertility. Baker, who offered insights on Hsueh’s study and its possible implications for patients in a video and article last month, is division chief of reproductive endocrinology and infertility and director of Stanford’s Program for Primary Ovarian Insufficiency. Her research and clinical interests include primary ovarian insufficiency, and assisted reproductive technology and hormone therapy for fertility and reproduction.

Questions can be submitted to Baker by either sending a tweet that includes the hashtag #AskSUMed or posting your question in the comments section below. We’ll collect questions until Monday, October 21 at 5 PM.

When submitting questions, please abide by the following ground rules:

  • Stay on topic
  • Be respectful to the person answering your questions
  • Be respectful to one another in submitting questions
  • Do not monopolize the conversation or post the same question repeatedly
  • Kindly ignore disrespectful or off topic comments
  • Know that Twitter handles and/or names may be used in the responses
  • Baker will respond to a selection of the questions submitted, but not all of them, in a future entry on Scope.

Finally – and you may have already guessed this – an answer to any question submitted as part of this feature is meant to offer medical information, not medical advice. These answers are not a basis for any action or inaction, and they’re also not meant to replace the evaluation and determination of your doctor, who will address your specific medical needs and can make a diagnosis and give you the appropriate care.

Previously: Researchers describe procedure that induces egg growth in infertile womenOh, baby! Infertile woman gives birth through Stanford-developed technique and Sex without babies, and vice versa: Stanford panel explores issues surrounding reproductive technologies
Photo by Dylan Luder

Fertility, Pregnancy, Research, Stanford News, Videos, Women's Health

Researchers describe procedure that induces egg growth in infertile women

Researchers describe procedure that induces egg growth in infertile women

Earlier today, my colleague Krista Conger reported on a technique that induces egg growth in infertile women with primary ovarian insufficiency. In the video above, the researchers – along with Valerie Baker, MD, chief of Stanford’s Division of Reproductive Endocrinology and Infertility - further describe the work and its significance.

“This particular treatment does appear to be a real breakthrough – we’re just cautious not to give false hope because [it] hasn’t been done for large numbers of women yet,”  Baker notes. “But I think it really does hold much more potential than so many of the things that have been tried in the past.”

Previously: Oh, baby! Infertile woman gives birth through Stanford-developed technique

Fertility, Pregnancy, Research, Stanford News, Women's Health

Oh, baby! Infertile woman gives birth through Stanford-developed technique

Oh, baby! Infertile woman gives birth through Stanford-developed technique

newborn fingerKazuhiro Kawamura, MD, PhD, an associate professor of obstetrics and gynecology at the St. Marianna University School of Medicine in Japan, doesn’t usually cry after performing a caesarean section. The operation itself is routine. But this birth was special.

Kawamura had just delivered the first baby conceived through the use of a new treatment for infertility developed in the Stanford laboratory of Aaron Hsueh, PhD, professor of obstetrics and gynecology. Kawamura headed the clinical aspects of the research, and all the patients received treatment in Japan. Hsueh is senior author of the work, which was published online today in the Proceedings of the National Academy of Sciences (subscription required).

“I couldn’t sleep the night before the operation, but when I saw the healthy baby my anxiety turned to delight,” Kawamura told me. “The couple and I hugged each other in tears.”

The technique, which the researchers refer to as “in vitro activation,” or IVA, requires an ovary (or a portion of an ovary) to be removed from the woman, treated outside the body and then re-implanted near her fallopian tubes. The woman is then treated with hormones to stimulate the growth of specialized structures in the ovaries called follicles in which eggs develop.

As I describe in our release:

Twenty-seven women in Japan took part in the experimental study. The researchers were able to collect mature eggs for in vitro fertilization from five of them. Although it has not yet been tested in women with other causes of infertility, the researchers plan to investigate whether the technique can also help women with early menopause caused by cancer chemotherapy or radiation, and infertile women between the ages of 40 and 45.

The women in the study were suffering from a condition called primary ovarian insufficiency, which affects about 1 percent of women of reproductive age in this country. The ovaries of these women don’t produce normal amounts of estrogen or release eggs regularly. As Hsueh explained:

Women with primary ovarian insufficiency enter menopause quite early in life, before they turn 40. Previous research has suggested that these women still have very tiny, primordial primary and secondary follicles, and that even though they are no longer having menstrual cycles they may still be treatable. Our results obtained with our clinical collaborators in Japan make us hopeful that this is a group of patients who can be helped.

Hsueh’s laboratory has been studying follicle maturation for years. In  2010, he was awarded $1.4 million from the California Institute for Regenerative Medicine to study the maturation of human eggs for stem cell derivation. This birth represents a combination of two treatments known to induce follicle growth: cutting the isolated ovary into small pieces (which disrupts a growth arrest pathway called Hippo) and treating those bits with a substance to modulate a second follicle-development pathway (described by Gina Kolata in the New York Times) previously identified in Hsueh’s lab. The researchers found that the two treatments together had an additive effect, activating many more follicles than either treatment alone.

Valerie Baker, MD, chief of Stanford’s Division of Reproductive Endocrinology and Infertility and medical director of the Stanford Fertility and Reproductive Medicine Center, wasn’t directly involved in the study, but is working with Hsueh to test the treatment on more women. As she described:

These women and their partners come to me in tears. To suddenly learn at a young age that your childbearing potential is gone is very difficult. This technique could potentially help women who have lost their egg supply for any reason.

Photo by Jon Ovington

Behavioral Science, Pregnancy, Research

Studying nesting behavior in moms-to-be

Studying nesting behavior in moms-to-be

3755981125_4a46eaf08fRecently a pregnant friend who’s five weeks from her due date solemnly acknowledged it was time: She and her partner had long ago agreed that he would never make her get rid of any of her shoes, but now she was willing to do so of her own accord. They needed to create space in their lives for the baby to inhabit.

A newly published study from McMaster University in Canada focused on this so-called nesting behavior – an instinctive drive, particularly strong in the third trimester of pregnancy, to clean, organize, and prepare the home for the forthcoming family addition.

From the paper (subscription required), which appears in the journal Evolution & Human Behavior:

In altricial mammals, “nesting” refers to a suite of primarily maternal behaviours including nest-site selection, nest building and nest defense, and the many ways that nonhuman animals prepare themselves for parturition are well studied. In contrast, little research has considered pre-parturient preparation behaviours in women from a functional perspective.

A release describes scientists’ exploration of the psychology behind nesting behavior in humans:

They designed two separate studies: a large online study comparing pregnant and non-pregnant women and a longitudinal study tracking women throughout pregnancy and into the postpartum period.

Non-pregnant women — who acted as the control group — were compared at similar time intervals, using a questionnaire which was developed, in part, from interviews conducted with midwives.

The study authors found that women exhibit nesting behaviors of preparing space and becoming more socially selective, similar to nonhuman mammals, which may serve as a protective function. “Nesting is not a frivolous activity,” said lead author Marla Anderson in the release, adding that “providing a safe environment helps to promote bonding and attachment between both the mother and infants.”

Meanwhile, my friend the mom-to-be, who describes her behavior more as a practical matter of space conservation than maternal nesting instinct, said of her shoe-shedding, “Right now I’m agreeing to two pairs. It will probably be more like a half-dozen. We’ll see!”

Previously: Quitting smoking for the baby you plan to have togetherA reminder that prenatal care is key to a healthy pregnancy and A mom shares her thoughts on pregnancy bed rest
Photo by Meagan

Cardiovascular Medicine, Pregnancy, Research, Sleep, Stroke, Women's Health

Study shows women with gestational diabetes at increased risk for obstructive sleep apnea

3446166224_b87396dd60Come morning, an extra hour of sleep can seem to make the sun rise (“sprinkle it with dew…”). Likewise, squandering an hour awake in the middle of the night is a major bummer. My heart went out to moms-to-be, an oft-sleep-deprived demographic, when I read about a recent study finding that women with gestational diabetes - between four and eight percent of pregnant women in the U.S. – were seven times more likely to experience obstructive sleep apnea than pregnant women without gestational diabetes. Intermittently pausing the breath, typically in intervals of 20 to 40 seconds, obstructive sleep apnea not only interrupts sleep but also can raise the risk for stroke and hypertension if left untreated.

Researchers of the study, which was accepted for publication in The Endocrine Society‘s Journal of Clinical Endocrinology & Metabolism, monitored sleep disruptions, including sleep apnea, in 45 women: 15 who were pregnant and had gestational diabetes, 15 who were pregnant and did not have gestational diabetes, and 15 who were not pregnant and did not have diabetes.

From a release:

“It is common for pregnant women to experience sleep disruptions, but the risk of developing obstructive sleep apnea increases substantially in women who have gestational diabetes,” said Sirimon Reutrakul, MD, who conducted the research at Rush University Medical Center in Chicago. “Nearly 75 percent of the participants in our study who had gestational diabetes also suffered from obstructive sleep apnea.”

The study found a strong association between obstructive sleep apnea and gestational diabetes in this group of mostly overweight or obese women. Pregnant women who did not have gestational diabetes were able to get an additional hour of sleep and had less fragmented sleep than women who had gestational diabetes.

Previously: Why untreated sleep apnea may cause more harm to your health than feeling fatiguedHow effective are surgical options for sleep apnea?A reminder that prenatal care is key to a healthy pregnancy and Study: Exercise may not stave off gestational diabetes
Photo by quinn.anya

Fertility, Pregnancy, Research, Women's Health

Study shows bigger breakfast may help women with PCOS manage symptoms

Study shows bigger breakfast may help women with PCOS manage symptoms

“We’ve had one, yes. But what about second breakfast?” Pippin replied to Aragorn in The Lord of the Rings: The Fellowship of the Rings (2001). How would a hobbit manage with one breakfast if it were a nearly 1,000-calorie affair, and lunch and dinner were eaten in prince and pauper-sized portions, respectively? What about certain human females?

A recent study from Tel Aviv University varied meal timing and calorie distribution for normal-weight women with Polycystic Ovarian Syndrome (PCOS) and measured changes in insulin resistance and fertility rates among them. The 60 participants were randomly assigned to either a “big breakfast” group—consuming 983 calories for breakfast, 684 for lunch, and 190 for dinner—or a “big dinner” group, which kept lunch calories the same and switched the calorie numbers for breakfast and dinner, for 90 days. The study’s lead author, Daniela Jakubowicz, MD, has promoted hobbit-friendly breakfasts for weight loss previously.

Past research has found a link between PCOS and insulin resistance, and between symptoms of PCOS, such as irregular ovulation cycles and high levels of testosterone, and fertility problems. Other studies have focused on lifestyle modifications such as weight loss for insulin and hormone management among overweight women with PCOS, and medications including insulin-sensitizing agents may be used to treat hormonal and metabolic conditions associated with PCOS.

In the recent study, published in Clinical Science, participants’ BMI stayed the same, as expected, while other measures differed between the two groups. From a release:

While participants in the “big dinner” group maintained consistently high levels of insulin and testosterone throughout the study, those in the “big breakfast” group experienced a 56 percent decrease in insulin resistance and a 50 percent decrease in testosterone. This reduction of insulin and testosterone levels led to a 50 percent rise in ovulation rate, indicated by a rise in progesterone, by the end of the study.

According to Prof. Jakobowicz, these results suggest that meal timing – specifically a meal plan that calls for the majority of daily calories to be consumed at breakfast and a reduction of calories throughout the day – could help women with PCOS manage their condition naturally, providing new hope for those who have found no solutions to their fertility issues, she says. PCOS not only inhibits natural fertilization, but impacts the effectiveness of in vitro fertilization treatments and increases the rate of miscarriage.

Study authors indicated that a high-calorie breakfast followed by reduced caloric intake throughout the day could also lessen the impact of common PCOS symptoms, such as unwanted body hair, acne, and an elevated risk of developing type-2 diabetes.

Lynn Westphal, MD, is co-director of Women and Sex Differences in Medicine (WSDM) and an associate professor of obstetrics and gynecology at Stanford whose research interests include infertility and fertility preservation. I asked her for comment on this study. She replied:

I think it’s a really interesting study. I would not have thought that the timing of meals would make that big of a difference in the PCOS patients. A lot of patients don’t eat breakfast or don’t think it’s important, so having a study that shows it has an impact on fertility will help us counsel patients to modify their lifestyle in a way that also benefits their overall health. As a follow up, it would be interesting to see if this benefit is seen during pregnancy, too.   We know that the health of the mother during pregnancy can have a significant impact on the long-term health of the child.

Previously: NIH study suggests progestin in infertility treatment for women with PCOS may be counterproductivePatients turning to acupuncture to boost fertility and The pill works just as well for heavier women, study finds

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