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Ethics, Fertility, Genetics, In the News, Pregnancy, Stanford News

Daddy, mommy and ? Stanford legal expert weighs in about “three parent” embryos

Daddy, mommy and ? Stanford legal expert weighs in about "three parent" embryos

3519855504_9000d95a2aIt’s an interesting question that got a lot of traction in the media last week. Does the contribution of a tiny amount of DNA from a third person during in vitro fertilization really mean that the resulting child would have three genetic parents? Researchers in Oregon have proposed the technique as a way to avoid genetic diseases arising from faulty mitochondrial DNA by replacing an egg’s mitochondria with one from a second, healthy woman either before or after fertilization with a man’s sperm. They’ve shown that it works in monkeys, and the FDA met last week to consider whether the technique is safe enough to be used in humans.

Yesterday, Stanford law professor and bioethicist Hank Greely, JD, posted a great analysis of the topic on the university’s Law and Biosciences blog, complete with an elegant explanation of the problem for women with mitochondrial DNA mutations:

The mitochondria (high school biology’s “energy powerhouses of the cell”) have their own very short stretch of DNA, separate from the 6.8 billion base pairs found on 46 chromosomes in the cell’s nucleus (the nuclear DNA).  The 16,569 base pairs of the mitochondrial DNA (hereafter “mtDNA”) hold 37 (some say 38) genes, providing instructions for making 13 (or 14) proteins and another 24 RNA molecules.  The full importance of these genes is unknown, but it is clear that some (happily rare) variations in the mtDNA cause quite severe illnesses. Unfortunately, each child gets all of its mitochondria (and hence its mtDNA) in the egg from its mother; if the mother’s mtDNA is dangerously flawed, so will be the mtDNA of all her children. With almost all other genetic diseases, no matter how inevitably the “bad” genetic variation leads to a disease (how “penetrant” the genetic variation is), a woman will have only a 50% or 25% chance of passing on the condition.  With these, her genes can give rise to no healthy children.

Greely gets at the heart of the matter when he compares the statistically minute contribution from the donated mitochondria to a hypothetical child he calls Heather:

I have DNA from four people in each of my cells:  my mother’s mother, my mother’s father, my father’s mother, and my father’s father. Actually, my DNA really came from all eight of my great-grandparents, and all 1024 of my great great great great great great great great grandparents, and all roughly one million of my great (18) grandparents. Yes, all that DNA passed through my (genetic) parents before coming to me, but why does that matter?

Heather gets her DNA from more than two people a bit differently from the way the rest of us do, but so what? How does getting what is, in effect, “gene therapy,” where the gene is delivered in a natural package called the mitochondrion, turn our hypothetical (and healthy) child into a powerful argument against the procedure?

It shouldn’t.  Heather will not be getting superpowers, she will not be in any meaningfully way “designed” (except to avoid a nasty genetic disease), and she will not be given a newly made DNA sequence never before found in the human gene pool. She will get mitochondria with mtDNA that will allow her to have normal health, not a grave disease. That mtDNA will have been taken from a woman, who, though not a source of Heather’s nuclear DNA, is certainly a participant in the human gene pool.

“Heather has three parents” is NOT an argument. It is an irrelevant but attention-getting slogan that is uncritically put forward as, and sometimes mistaken for, a real argument. Yes, the proposed process is a way of bringing forth living and healthy babies that is somewhat new and different, but so were obstetric forceps, (safe) C-sections, and in vitro fertilization. Novelty is not, in itself, a respectable argument against it.

Previously: Medical practice, patents and “custom children”: A look at the future of reproductive medicine, Five million babies and counting: Stanford expert offers conversation on reproductive medicine and Stanford researchers work to increase the odds of in vitro fertilization success
Photo by Christian Pichler

Pregnancy, Stanford News, Women's Health

Attending to signs of preeclampsia in late-stage pregnancy

preeclampsiaAs recently written about on Scope, the California Quality Care Collaborative organized a task force and produced a toolkit of recommendations for treating preeclampsia, a pregnancy complication marked by hypertension that can kill pregnant women and new mothers.

An article in the San Francisco Chronicle details one woman’s health emergency and stillbirth experience owing to the condition. “I wish I had known more about preeclampsia,” Elizabeth Barnett, the 33-year-old mother, told Stephanie M. Lee. “Not that the outcome necessarily could have been that much different because of how severe I had it, but I definitely would have gone into the hospital earlier and would have been more on top of it.”

The piece emphasizes why recognizing and treating preeclampsia and eclampsia – which may induce deadly seizures – is paramount for expectant mothers and their health care providers.

From the Chronicle:

“Nobody realizes it’s a problem. Preeclampsia is the most common medical complication of pregnancy essentially,” said [Maurice Druzin, MD], an obstetrics and gynecology professor at Stanford University School of Medicine and an attending physician at Lucile Packard Children’s Hospital. Druzin helped lead the group of clinicians that wrote the guidebook.

From 2002 to 2004 in California, 25 women died of preeclampsia or eclampsia, making up 17 percent of all pregnancy-related deaths in the state during that time, according to an analysis of the most recent data. The number of maternal deaths in California, in general, is relatively small. The numbers had, in fact, been declining for years, but increased between 1999 and 2010 because of chronic conditions among pregnant women, variety in quality of pre- and postnatal care and other factors.

Previously: New preeclampsia toolkit will help prevent maternal deaths and Could exercise before and during early pregnancy lower risk of pre-eclampsia?
Photo by pumicehead

Health and Fitness, Pregnancy, Public Health, Research, Women's Health

Group sessions shown to help women maintain healthy pregnancy weight

Group sessions shown to help women maintain healthy pregnancy weight

pregnant_012214More than 50 percent of pregnant women, myself included, gain more weight than the recommended national guidelines. Personally, I had grand ambitions of maintaining my pre-pregnancy workout routine, or at least a modified version, and sticking to my usual healthy eating habits for the entire 40 weeks. But then I was sidelined for several months by unrelenting fatigue and an odd form of morning sickness where only Mexican cuisine agreed with my stomach. Although I resumed exercising and eating a more diverse diet, I wasn’t able to keep my weight gain within the suggested range.

Perhaps I would have been more successful if my prenatal check-ups had been structured as meetings with other women of similar gestational ages, rather than the traditional doctor visit. According to a growing body of research, women who received group prenatal care benefitted in a number of ways, including weight management. Futurity reports:

Researchers found that women who participated in prenatal care delivered in a group setting as opposed to the traditional approach—which typically involves a series of regular one-on-one visits with a healthcare provider—saw a 22 percent reduction in the risk of excessive gestational weight gain.

The beneficial effect of group prenatal care was even more pronounced for women who were overweight prior to pregnancy, who saw a 28 percentage points reduction in the risk of excessive gestational weight gain.

The post also notes that past studies have shown prenatal group check-ups can reduce the risk of infants being born with very low birth weights and increase the odds that  mothers will breastfeed their babies.

Previously: Eating nuts during pregnancy may protect baby from nut allergies, What’s in YOUR blood? A simple blood test may change the face of prenatal care and From womb to world: Stanford Medicine Magazine explores new work on having a baby
Photo by hugrakka

Patient Care, Pregnancy, Public Health, Stanford News, Women's Health

New preeclampsia toolkit will help prevent maternal deaths

New preeclampsia toolkit will help prevent maternal deaths

pregnant woman holding bellyCalifornia hospitals have a new tool to help reduce maternal deaths. Today, the California Maternal Quality Care Collaborative released a toolkit for the treatment of preeclampsia, a pregnancy complication that can kill pregnant women and new mothers. Although, fortunately, few women die in California during pregnancy or birth, preeclampsia is among the leading causes of such deaths. Importantly, many deaths caused by this disease can be prevented if doctors know what to do.

Preeclampsia is characterized by high blood pressure in late pregnancy. It can escalate without warning to full-blown eclampsia, in which the woman experiences potentially deadly seizures. The only cure is delivery of the baby.

To help California hospitals handle this obstetric emergency, the CMQCC convened a task force that reviewed scientific literature on the disease. The task force, c0-led by Stanford’s Maurice Druzin, MD, developed a package of materials that includes care guidelines, such as identification of clinical “triggers” that require immediate evaluation; a compendium of relevant research on the disease; and educational materials for physicians and patients.

From the CMQCC’s announcement about the toolkit:

The primary aim of the Toolkit is to guide and support obstetrical providers, clinical staff, hospitals and healthcare organizations to develop methods within their facilities for timely recognition and an organized, swift response to preeclampsia. “Every hospital that provides obstetric care should have current guidelines on early recognition and response to preeclampsia,” says Dr. Druzin. An expert in the field, Dr. Druzin also served on a national committee that made recommendations to the American College of Obstetrics and Gynecology on how to diagnose and treat preeclampsia.

I spoke with Druzin when the toolkit was in development, and he stressed that sharing this information could prevent tragic outcomes for women and their families. “The good news is that with a modern treatment approach, most women and their babies can have safe, healthy outcomes,” he said.

Previously: Could exercise before and during early pregnancy lower risk of pre-eclampsia?
Photo by nanny snowflake

Infectious Disease, Pregnancy, Public Health, Women's Health

Text message reminders shown effective in boosting flu shot rates among pregnant women

Text message reminders shown effective in boosting flu shot rates among pregnant women

pregnant_textingInfluenza is now widespread in 35 states across the country. Changes to the immune system during pregnancy make expectant moms more susceptible to the flu, and these women also face a particularly high risk for complications if they get sick. But despite this, roughly half of pregnant women fail to get a seasonal flu shot.

In an effort to increase adherence rates among moms-to-be, Columbia University researchers recently examined the effectiveness of using text message reminders. Psych Central reports:

Women in the intervention group received five weekly text messages about the importance of the vaccine starting in mid-September 2011 and two text message appointment reminders.

Both the intervention group and a control group received standard automated telephone appointment reminders.

The results showed that text messaging was successfully used to increase vaccination coverage.

Adjusting for gestational age and number of clinic visits, women who received the intervention were 30 percent more likely to be vaccinated.

A subgroup of women early in the third trimester had the highest intervention effect – 61.9 percent of the intervention group was vaccinated versus 49 percent for the control group.

The study adds to a growing body of work that shows how mobile health initiatives can help improve public health.

Previously: Ask Stanford Med: Answers to your questions about seasonal influenza, Flu shots for moms may help prevent babies from being born too small and Examining the effectiveness of text4baby service
Photo by niXerKG

Immunology, Nutrition, Pediatrics, Pregnancy

Eating nuts during pregnancy may protect baby from nut allergies

Eating nuts during pregnancy may protect baby from nut allergies

peanutbutterjelly.jpgThank goodness I ate so much peanut butter while I was pregnant.

That was my first reaction to new research, published today in JAMA Pediatrics, that found an association between higher nut consumption during pregnancy and lower rates of nut allergies in the baby. The researchers, at the Dana-Farber Children’s Cancer Center, Boston, asked women to record information about their diets during or soon after pregnancy, and came back later to find out whether their babies developed nut allergies. Among moms who were not themselves allergic to nuts, regular consumption of peanuts and tree nuts (almonds, walnuts and so on) was linked to reduced nut allergies in the babies. Women with the highest nut consumption, who ate nuts five times or more per week, had babies with the lowest allergy risk.

The finding helps clarify a debate about whether expectant women can do anything to reduce the risk of allergies in their babies. Previously, some experts have suggested that perhaps pregnant and breastfeeding women should avoid nuts to lower allergy risk. But the new findings contradict that recommendation. From a JAMA press release on an editorial about the new research:

…pregnant women should not eliminate nuts from their diet as peanuts are a good source of protein and also provide folic acid, which could potentially prevent both neural tube defects and nut sensitization. So, to provide guidance in how to respond to the age-old question “To eat or not to eat?” mothers-to-be should feel free to curb their cravings with a dollop of peanut butter!

Previously: Food allergies and school: One mom’s perspective, Ask Stanford Med: Pediatric immunologist answers your questions about food allergy research and A mom’s perspective on a food-allergy trial
Photo by Matias-Garabedian

Pregnancy, Research, Stanford News, Women's Health

Stanford-developed fertility treatment deemed a “top medical breakthrough” of the year

Stanford-developed fertility treatment deemed a "top medical breakthrough" of the year

‘Tis the season for end-of-the year top 10 lists. (Just wait – we have some of our own to post soon on Scope.)  TIME.com recently published its “Top 10 of Everything of 2013″ lists, and a Stanford fertility development was included as a top medical breakthrough.

From writer Alice Park:

Poor quality eggs are one of the reasons that some American women struggle to get pregnant. But researchers at Stanford University developed a technique that helps women with ovarian insufficiency to produce healthy, mature eggs again. The process, called in vitro activation, involves removing an ovary or piece of ovarian tissue and treating it in a lab with proteins and other factors that help the immature follicles it contains to develop into eggs. The recharged tissue is then reimplanted near the fallopian tubes. So far, of the 27 women who volunteered to test the technique, five produced viable eggs, one woman is pregnant and another gave birth to a healthy baby.

Previously: Image of the Week: Baby born after mom receives Stanford-developed fertility treatment, Oh, baby! Infertile woman gives birth through Stanford-developed technique and Researchers describe procedure that induces egg growth in infertile women

Emergency Medicine, In the News, Pediatrics, Pregnancy, Stanford News, Women's Health

Russian doctors visit Packard Children’s Hospital for childbirth-crisis training

Russian doctors visit Packard Children's Hospital for childbirth-crisis training

operationSome believe “The Trauma of Birth” is part of the human condition even during a healthy delivery. But sometimes entry into the world comes with unexpected medical complications – for mother as well as baby. Stanford’s Center for Advanced Pediatric and Perinatal Education at Lucile Packard Children’s Hospital trains health professionals on best practices for handling childbirth emergencies. An article in the San Francisco Chronicle spotlights experiences of the first Russian visitors to the center, which has been training medical experts from all over the world since 2002.

From the piece:

The simulation room looked a lot like a hospital room, with a couple of significant differences. Behind a two-way mirror, technicians sat in a control room video-recording the doctors’ every movement on seven cameras. They manipulated the vital signs shown on the bedside monitor of the mother, who was played by a hospital employee. They controlled the pumping lungs and warm breath of the baby mannequin.

After the childbirth simulation, the four Russian doctors involved in the scenario sat before a television and watched themselves on instant replay. Cringing a bit, the obstetricians admitted that they could have worked more efficiently by splitting up, with one monitoring the woman’s vital signs and the other guiding the delivery. One of the neonatologists who assisted with the newborn remarked that she should have called for help from a colleague sooner.

One of the participating doctors, Yulia Vorontsova, a neonatologist, said with the assistance of an interpreter, “When you look at a situation from the outside, it gives you a richer experience.”

Previously: “Preparation is everything:” More on how Stanford and Packard got ready for the Asiana crash, Whiz Kids: Research looks at handling pediatric crises effectively and Improving treatment for infant respiratory distress in developing countries
Photo by phalinn

Pregnancy, Stanford News, Technology, Videos, Women's Health

Placenta: the video game

Placenta: the video game

Fetus-Placenta-copy-3

As I discovered while editing the new Stanford Medicine magazine report on childbirth, the placenta is a terribly important organ yet a big question mark for most people. To help demystify it we used a new kind of storytelling - an interactive simulation that allows you to observe and control the development of the placenta. It’s a companion to an article on the epidemic of the potentially fatal condition known as placenta accreta.

The producer, David Sarno, a former Los Angeles Times technology reporter and a 2013 John S. Knight Journalism fellow, built the simulation using the tools of video game design. It’s the first finished product of his start-up, Lighthaus, dedicated to creating interactive digital stories. If you’re curious about the placenta - or this new mixture of technology and storytelling - click on the image above to get to the video. (Note: To run the program you’ll need the Unity web player, which is free and downloads pretty quickly at the link.)

Previously: From womb to world: Stanford Medicine Magazine explores new work on having a baby, Touchable journalism technology helps to teach medicine, Species-specific differences among placentas due to long-ago viral infection, say Stanford researchers and The placenta sacrifices itself to keep baby healthy in case of starvation, research shows
Illustration by Bruce Rudolph/Lighthaus Inc.

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

Ask Stanford Med: Expert in reproductive medicine responds to questions on infertility

Ask Stanford Med: Expert in reproductive medicine responds to questions on infertility

couple sitting2Infertility is a reality faced by 10 to 15 percent of U.S. couples. For some, the topic is emotionally charged. And while many may have questions related to reproductive endocrinology, research and treatment options may not be favorite table topics for a night out with friends. So for this edition of Ask Stanford Med, we’ve asked Valerie Baker, MD, the division chief of reproductive endocrinology and infertility and director of Stanford’s Program for Primary Ovarian Insufficiency, to respond to such questions about infertility. Her answers appear below.

@giasison asks: Can you name the 3 top causes of #infertility in your current practice?

Age-related decline in fertility (particularly decline in egg quantity and egg quality with age), sperm problems, and lack of ovulation.

Charmaine asks: Is it true that infertility could be a side effect of vaccination? Why?

No, vaccinations do not cause infertility.

Michelle asks: How have treatments for infertility evolved over the last 10 years? And what might treatments look like 10 years from now?

The biggest advance since the mid-90s has been our ability to help couples with extremely poor sperm quality to conceive. I hope that 10 years from now we will have treatments that help couples where a woman is suffering from premature loss of her egg supply to conceive with her own eggs. Right now, the main choice for women with extremely low egg supply and low egg quality is oocyte donation, where the egg comes from a donor.

Shabba92 asks: What are the most common treatments in your clinic? What percentage of patients wind up undergoing IVF?

The most common treatments are intrauterine insemination (IUI) and in vitro fertilization (IVF). We also do ovulation induction for women who are not ovulating on their own and surgery if needed to correct certain problems. Many couples are able to conceive with simpler treatments and do not need IVF. Fewer than half need IVF.

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