Your Participation in Action

September 06, 2017
There are eight research studies underway that are using information that you provided to the Registry.  As part of our commitment to you, here is a summary of a recently completed study.

Dr. Sandra Founds from the University of Pittsburgh School of Nursing completed a pilot study to look at a set of genes (genotypes) in DNA and how they relate to the physical symptoms of preeclampsia.  Because of your contributions, the Registry was able to provide Dr. Founds with the necessary information.

The study aimed to identify women's symptoms of preeclampsia, such as swelling or headaches, and explore these symptoms with genes that may be linked to preeclampsia (also called "candidate genes").  Over 100 Registry participants with completed enrollment surveys and DNA samples were included in this study.  8 single nucleotide polymorphisms (SNPs), often called "snips", were evaluated in 4 preeclampsia candidate genes.  SNPs are genetic differences that can act as biological markers for scientists to learn more about certain conditions.  Of the 17 symptoms that were studies, 6 were associated with 4 SNPs, and 7 symptoms were affected in 8 genotypes.

This research learned that certain preeclampsia symptoms can be linked with certain genes, and that it would be reasonable for scientists to consider symptoms in future genetic research of preeclampsia.  Future studies to validate these findings could lead to a better understanding of the characteristics of preeclampsia in an effort to better predict, prevent, and provide early precision care to mothers and their babies.

Your help with this study adds another piece to the preeclampsia puzzle, thank you.

Low-Dose Aspirin Continues to Prove Effective in Reducing Onset of Preeclampsia

August 28, 2017
A new study recently published by the New England Journal of Medicine found that women at high risk for preterm preeclampsia who took aspirin were less likely to develop the condition than women who were given a placebo.

Women from 13 different hospitals in seven different countries, who had been identified in their first trimesters as high risk for developing preeclampsia, were randomly prescribed either 150 mg of aspirin or a placebo pill.

In this double blind, prospective study, the aspirin or placebo were administered from 11 to 14 weeks of gestation until 36 weeks in women who were at high risk for preeclampsia.

Study results found that 1.6 percent of women taking the 150 mg dose of aspirin developed preterm preeclampsia, while 4.3 percent of women taking the placebo developed the life-threatening disorder.

Why it matters:  Preeclampsia is a critical contributing factor to the loss of mothers and babies during childbirth.  As maternal mortality rates continue to rise in the United States, there is increased pressure to find effective treatments for women who are at-risk for preeclampsia. This study is the largest of its kind, including 1,776 randomly assigned women from seven different countries.  The study also used the European dose of 150mg, which is almost twice the United States recommended dose of 81 mg.  This helps narrow down the effective dose to prescribe and at which point in gestations beginning an aspirin regimen is helpful.

New study reports costs of preeclampsia to the U.S. healthcare system at $2.18 billion in first year

July 12, 2017
Preeclampsia Foundation Statement on AJOG Preeclampsia Report of Major Impact

Melbourne, FL -- Eleni Tsigas, Executive Directo of the Preeclampsia Foundation, released the following statement on the American Journal of Obstetrics & Gynecology (AJOG) report on the Short-term costs of preeclampsia to the United States healthcare system:

"In this report of major impact, the researchers have documented the short-term medical costs associated with preeclampsia.  This aggregated incremental cost was found to be $2.18 billion the U.S. healthcare system for the first 12 months after delivery -- $1.03 billion in maternal healthcare costs and $1.15 billion for infants born to mothers with preeclampsia.

"Total short-term healthcare costs for preeclampsia pregnancies, including the usual costs associated with birth, were estimated to be $6.4 billion, summed across mothers and infants for all gestational ages in the US, so the burden of preeclampsia represents more than one-third of the total costs.

"This is the first and most comprehensive economic analysis to estimate the annual cost burden of preeclampsia for both mothers and infants within the first 12 months after delivery.  Quantifying the total cost of a health problem.  Preeclampsia, in particular, has been under-recognized and under-researched relative to its prevalence as a leading cause of maternal and infant morbidity and mortality.

"By underscoring the economic burden of preeclampsia, this report provides and important call-to-action for more research funding and awareness of this significant health problem, and a commitment to improving outcomes that focus on prevention, particularly for mothers."

To read the full report, see AJOG's Short-term costs of preeclampsia to the United States healthcare system, and editorial commentary, July 2017.

Community Foundation for Brevard Awards 2015 Medical Research Grant to Preeclampsia Foundation

August 26, 2015

Melbourne, Florida- The Community Foundation for Brevard has awarded the Brevard-based Preeclampsia Foundation a Medical Research Grant in the amount of $22,500 from the Kenneth R. Finken and Dorothy Hallam Finken Endowment Fund. This grant will extend research funded last year by the Community Foundation to study preeclampsia and its impact on the long-term health of mothers and infants through The Preeclampsia Registry™.

“This grant extends research funded in 2014 to study the genetics of preeclampsia and its association with cardiovascular disease, both of which have dramatic impact on the health of women and children,” said Eleni Tsigas, Executive Director of the Preeclampsia Foundation. “We aim to develop innovative mobile health technology to follow women with prior preeclampsia long-term and to further our genetic studies of the preeclampsia/cardiovascular disease relationship. These efforts will provide an enormous contribution to finding a cause of preeclampsia and to facilitating timely therapeutic intervention for both preeclampsia and cardiovascular disease.”

“This  unique medical research with the Brevard-based Preeclampsia Foundation is not only going to benefit mothers and babies world-wide, it also leads to a better understanding of the cause and treatment of cardiovascular disease in women,” said Sandi Scannelli, President/CEO of the Community Foundation for Brevard.

The first of its kind to focus solely on hypertensive disorders of pregnancy, The Preeclampsia Registry captures self-reported and clinical information as well as family and pregnancy history. Overseen by an Institutional Review Board, the registry ensures participants’ privacy and rights in medical research by sharing only de-identified information with approved scientists, researchers, and clinicians.

(From left) Preeclampsia Foundation Executive Director Eleni Tsigas gratefully accepts a
$22,500 medical research grant award from the Community for Brevard’s
Lisa Davidson, Grants & Program Manager, and Community Foundation Board Members
Robert Naberhaus III and Juliana Kreul.

The Preeclampsia Registry tops 2,000; what this means for research

August 10, 2015

The Preeclampsia Registry™ has enrolled more than 2,000 participants since its launch in September 2013. Sponsored by the Preeclampsia Foundation, The Preeclampsia Registry is the first of its kind to focus solely on hypertensive disorders of pregnancy, bringing together survivors, family members, and researchers from all over the world. Its purpose is to develop a comprehensive picture of preeclampsia to help discover preventions and treatments, including ones that will reduce the disorder’s long-term health impact.

As the online patient and family database for those affected by preeclampsia and related hypertensive disorders of pregnancy, The Preeclampsia Registry has been designed to aid and accelerate preeclampsia research. Women who have experienced preeclampsia and related disorders may enroll and participate, along with their family members and even friends who were not affected to serve as research “controls”.

The Preeclampsia Registry captures self-reported and clinical information, and family and pregnancy history. We began collecting biological data earlier this year and are completing our current project of sample collection for the registry’s biobank. So far, we have collected more than 500 samples from preeclampsia survivors and their sisters, partners, and children that will help us study preeclampsia’s connection to cardiovascular disease.

Presently, there are six ongoing research initiatives in different phases of completion. One is looking at the genetics of symptoms that women experience, or don't experience. Another will analyze the 'patient journey' from illness to diagnosis to management.

Each participant’s story, medical and pregnancy history, and ongoing health reporting can help scientists unravel the pieces of the preeclampsia puzzle. By allowing us to review your medical records pertaining to preeclampsia, we are able to verify the information you are entering into the registry. This is very important to some research studies. We encourage participants to provide their full medical records and are here to help them make the request to their doctors and/or hospitals. Overseen by an Institutional Review Board, the registry ensures participants’ privacy and rights in medical research at all times.

Participants can view charts and graphs in the "How Did Others Respond?" section on their “My Registry” page and may find data interesting to them. They can find out if other participants experienced the same symptoms or treatments. Because confidentiality is our top priority, no names or identifying information appears on the reports and statistics are displayed as percentages. Participants also have the ability to pose their own research questions in the “My Registry” section of this website.

According to Alina Brewer, Research Coordinator for The Preeclampsia Registry, “There’s a tremendous need for cultural diversity in the registry. Studies are most accurate when they can mirror the population affected by a disease, and increasing our racial and ethnic representation will help investigators gain a better understanding of the characteristics of this disease and validate The Preeclampsia Registry as a valuable resource.”

Participants help create a significant resource for researchers to gather data, start new studies, and make discoveries that will positively affect health outcomes for mothers and babies for many generations to come.

Our goal is to enroll more than 10,000 participants and achieve closer representation of all those affected by hypertension during pregnancy. For more information or to enroll, go to www.preeclampsiaregistry.org or contact Alina Brewer at registry@preeclampsia.org.

Can Pregnancy Complications Predict Future Cardiovascular Risk?

July 07, 2015

New Rochelle, NY, July 7, 2015—According to a new study, women can accurately recall key pregnancy- related information at least 4 years later that could have important implications for their future risk of developing cardiovascular disease (CVD). A simple and brief questionnaire developed and validated by researchers from Washington University School of Medicine (St. Louis, MO), Harvard School of Public Health, and Brigham and Women's Hospital (Boston, MA) is a valuable new screening tool described in an article in Journal of Women’s Health, a peer-reviewed publication from Mary Ann Liebert, Inc., publishers. The article and an accompanying editorial are available free on the Journal of Women’s Health website until August 7, 2015.

Ebony Boyce Carter, MD, MPH and coauthors assessed the accuracy of the responses to their questionnaire—provided by women who were, on average, more than 4 years postpartum—by comparing the answers to information in the women's medical histories. The pregnancy recall tool includes questions about infant birthweight and length of the pregnancy, and pregnancy-related complications such as gestational diabetes, pre-eclampsia, and pregnancy-associated hypertension. The authors report which pregnancy events and information were more commonly recalled in the article “Pregnancy Complications as Markers for Subsequent Maternal Cardiovascular Disease: Validation of Maternal Recall Questionnaire.”

In the Editorial “Pregnancy as a Window to Cardiovascular Disease Risk: How Will We Know?Janet M. Catov, PhD, Magee-Womens Hospital (Pittsburgh, PA) says, “The reproductive years are an ideal time to assess pre-clinical CVD risk and launch strategies to prevent or delay onset of disease in women.”

“This brief tool to gather information on pregnancy-related risk factors for future cardiovascular disease can help clinicians identify women at increased risk,” says Susan G. Kornstein, MD, Editor-in-Chief
of
Journal of Women’s Health, Executive Director of the Virginia Commonwealth University Institute for Women’s Health (Richmond, VA), and President of the Academy of Women’s Health.

 

'Get My Health Data' Campaign Launches

July 02, 2015

Campaign Aims to Remove Barriers, Enhance Demand, and Improve Patient Access to Electronic Health Data

Washington, DC (July 2, 2015) ─ Almost every industry ─ banking, travel, retail, education ─ gives customers powerful tools to manage their lives online. But in health care today, accessing information online is often a confusing and difficult process. Few patients know what to ask for or what information should be available to them, and not nearly enough health care organizations are equipped to meet their requests.

To change that, a diverse and powerful group of patient advocates today launched the Get My Health Data Campaign to support patients in asking for, getting and effectively using their digital health data.

The campaign has three goals: give consumers the information and tools they need to ask for and use their digital health data; identify and promote innovative apps and tools that help consumers securely compile, store and use their health data; and promote a culture in which consumer access to data is the rule, rather than the exception.

“With the Get My Health Data Campaign, we are creating a concerted push from consumers that will liberate digital health information so it gets into the hands of patients and family caregivers, allowing them to more fully engage in their health and care,” said Christine Bechtel, campaign coordinator and advisor to the National Partnership for Women & Families. “Even though we have the technology and policies in place to support patients in accessing their electronic health information, it’s not happening the way it should. Our goal is to enable patients to more easily get and use their digital health information.”

“Over the past five years, doctors and hospitals have widely adopted electronic health records. We’ve declared July 4th ‘Data Independence Day’ because we believe now is the moment when patient demand for their digital health information can flip health care into the open position. Let’s work together to make it practical for people to ask for, share and use their own health data,” added Farzad Mostashari, MD, ScM, former U.S. National Coordinator for Health Information Technology.

More information about the new campaign, including information on how to be successful in requesting data, what to request, patients’ rights to data, resources for providers, and more is available at www.GetMyHealthData.org.

“Too often there are gaps between policy intentions and implementation realities for patients and their families,” said Rebecca Coelius, MD, director of health at Code for America. “We’ve seen that this gap also causes challenges in accessing health data. Code for America has collaboratively built the Vocatus tool to be a simple and free way for patients or their proxies to request medical records, capture whether that request was successful, and provide a feedback loop to health care institutions, the public, and government agencies as part of the Get My Health Data Campaign.”

The Get My Health Data Campaign is coordinated by the National Partnership for Women & Families. Founders include Amida Technology Solutions; Code for America; Genetic Alliance; Health Data Consortium; Farzad Mostashari, MD, ScM; and Aneesh Chopra, former Chief Technology Officer of the United States.

The Preeclampsia Registry Goes Global

September 01, 2014

Since The Preeclampsia Registry™ was launched in September 2013, the online patient and family database for those affected by preeclampsia and related hypertensive disorders of pregnancy has enrolled more than 1,000 participants. Now one year later, the Preeclampsia Foundation is pleased to announce another major milestone - The Preeclampsia Registry's acceptance into the Global Pregnancy CoLaboratory. Funded by the Bill & Melinda Gates Foundation as part of its PRE-EMPT initiative, this international consortium of databases facilitates research that addresses adverse pregnancy outcomes to improve the health of women and their infants.


Global CoLab participants meeting this week in London to discuss goals and philosophies of The Preeclampsia Registry.
 
Preeclampsia and other disorders related to high blood pressure in pregnancy complicate 5-10% of pregnancies, and lead to serious maternal and infant illness or death. In the United States, this life-threatening condition impacts one in every 12 pregnancies. Globally, by conservative estimates, these disorders are responsible for 76,000 maternal and 500,000 infant deaths each year. 

The first of its kind to focus solely on hypertensive disorders of pregnancy, The Preeclampsia Registry captures self-reported and clinical information, and family and pregnancy history, and will begin collecting biological data in 2015. Overseen by an Institutional Review Board, the registry ensures participants' privacy and rights in medical research. "The Preeclampsia Registry's partnership with the CoLaboratory is an exciting step forward in advancing preeclampsia research that provides unique data from families and the ability to follow women for many years," said Principal Investigator James Roberts, MD, professor of obstetrics, gynecology, and epidemiology at Magee-Women's Institute & Foundation in Pittsburgh, Pennsylvania, and a member of the Preeclampsia Foundation's Medical Advisory Board. "We are excited to welcome the Preeclampsia Registry to CoLab. This is a valuable addition to our consortium that brings together researchers from all over the world and allows us to share quality clinical data and biological samples, and to facilitate new knowledge generation."
 
CoLaboratory partners represent renowned research facilities in Canada, China, Denmark, Finland, New Zealand, the Netherlands, Norway, Sweden, the United Kingdom, and the US.

The Preeclampsia Registry is open to anyone who has experienced preeclampsia, eclampsia, HELLP Syndrome, or high blood pressure in pregnancy. Family members are also encouraged to participate. To learn more or enroll, go to www.preeclampsiaregistry.org or emailRegistry@preeclampsia.org.

For more information about the Global Pregnancy CoLaboratory, visit the Pre-EMPT website.

Preeclampsia Doubles Women's Stroke Risk

February 10, 2014

The estimated 7 million women in the United States today who experienced a hypertensive disorder of pregnancy should be aware of new guidelines for preventing stroke in women from the American Stroke Association and American Heart Association. We have known for many years that a history of preeclampsia during pregnancy puts women at greater risk for future high blood pressure, but continuing research shows that the impact may extend to stroke risk as well.

In the U.S., stroke is now more common in women than men, with more than half of the 795,000 strokes that occur each year happening to women. The disease is also more deadly in women, with about 60 percent of stroke deaths happening in female patients.

"Guidelines for the Prevention of Stroke in Women - A Statement for Healthcare Professionals" from the American Heart Association and American Stroke Association were issued last week. These first-time-ever guidelines, similar to a 2011 publication by the American Heart Association, declared preeclampsia as a significant risk factor for heart disease and stroke. This paper suggested preeclampsia survivors have double the risk of having a stroke and those who deBox1veloped preeclampsia before 32 weeks, a five-fold increased risk, over women with normal pregnancies.

The guidelines went even farther to recommend interventions to prevent preeclampsia, in the hopes  that improved pregnancy outcomes would lower a woman’s risk of stroke. Low dose aspirin and calcium were suggested. [see Box 1] In other research, both of these interventions get mixed reviews, although the former has now been included in the 2013 Hypertension in Pregnancy Guidelines issued by the American College of Obstetricians & Gynecologists. Other research studies on calcium have only found an effect in populations that are calcium-deficient, generally not a problem in the U.S.

Nonetheless, an important part of the conclusions were the recommended follow up actions (see Box 2) which include evaluation and treatment of risk factors as soon as six months after delivery. The ASA guidelines recommend that women with a history of preeclampsia be screened and treated for high Box2blood pressure, obesity, smoking and high cholesterol to reduce their risk for stroke.“Until recently, medical fields outside the obstetrical community were less familiar with complications in pregnancy and with the ongoing risks after pregnancy. The recent report represents a landmark in efforts to increase awareness of risks for brain injury among all providers well beyond the obstetrical community,” said Dr. Thomas Easterling, Medical Board Director for the Preeclampsia Foundation. Similar to other recently released guidelines, all healthcare providers are encouraged to fully appreciate the risks of brain injury to women with preeclampsia and to practice strategies to prevent them.  The most common themes in all the guidelines include:

  • Early identification of risk
  • Prevention of seizures (eclampsia)
  • Control of blood pressure
  • Delivery when the magnitude of maternal risk exceeds the interests of the fetus in-utero
  • Aggressive postpartum management of fluid status and hypertension
  • Surveillance and risk intervention among women affected by preeclampsia as they age

"As advocates for women's health and especially for greater awareness of preeclampsia, we applaud this expression of heightened concern and hope this will lead to much needed research into the cause of preeclampsia and novel treatments," said Eleni Tsigas, Executive Director of the Preeclampsia Foundation. "We are working with a small, but growing body of healthcare providers interested in improving long-term health outcomes for preeclampsia survivors."

Your participation in action

September 06, 2017

What's a registry?

May 17, 2017

The Preeclampsia Foundation is not a university or research hospital, and like most other patient advocacy organizations, it does not own a state-of-the-art laboratory in which to conduct complicated experiments. However, the Preeclampsia Foundation is a large community of survivors, families, and friends joined in the search for an end to this devastating disorder. With so many questions and theories as to the cause and management of preeclampsia, a patient-driven registry (such as The Preeclampsia Registry) provides survivors and their families an opportunity to play a key role in preeclampsia research.

There are different types of registries that can serve different purposes, but ultimately, a patient registry is a platform to collect information from people who share the same condition and/or have similar experiences. In recent years, patient advocacy and rare disease organizations have become critical contributors to research through patient-driven registries. Often faced with financial barriers, these organizations have sought the most effective avenues to conduct research and create the most impact. Furthermore, these organizations consist of communities of volunteers who are enthusiastic to move research forward, and looking for ways to help, can create a resource unmatched in the clinical research arena.

Participating in a registry will mean answering some questions about your experience with the condition (from a few to over a hundred). Today many registries collect this information over the Internet; however, others may collect this information at a doctor’s office or by phone with a research assistant. Some registries may ask you to provide a copy of your medical records (or permission to release them), and you may also be asked to periodically update your health information.

You may be wondering where this information goes and how it helps to accelerate research. Some researchers just need information (or data) to test their theories, while others also need research participants to enroll in clinical trials. Registries can expedite the research process by providing researchers with valuable information and participants that would otherwise have been more difficult and time consuming to achieve.

The Preeclampsia Registry, for example, provides approved researchers with access to “de-identified” health information – information that does not contain participant names or contact information. This helps researchers to find patterns among preeclampsia survivors that can lead to findings and further studies. Researchers may also pose new questions to a large and willing audience, a strategy that usually takes much longer without a registry.

The Preeclampsia Registry also gives its participants the option of learning about other research studies of which they may qualify and provides them with the means of connecting with these researchers.

Most importantly, patient registries unite the patient voice with clinical research. Patients have questions, theories, and interests that are often different from investigators conducting formal research. By engaging patients in the research process, as we can through patient registries, the chances for discovery and improvement are an even greater possibility.

For more information about patient registries, visit http://www.nih.gov/health/clinicaltrials/registries.htm        

To learn more about The Preeclampsia Registry, go to www.preeclampsiaregistry.org

Your contributions are advancing genetic discoveries

April 22, 2017

What's a registry?

August 16, 2016

The Preeclampsia Foundation is not a university or research hospital, and like most other patient advocacy organizations, it does not own a state-of-the-art laboratory in which to conduct complicated experiments. However, the Preeclampsia Foundation is a large community of survivors, families, and friends joined in the search for an end to this devastating disorder. With so many questions and theories as to the cause and management of preeclampsia, a patient-driven registry (such as The Preeclampsia Registry) provides survivors and their families an opportunity to play a key role in preeclampsia research.

There are different types of registries that can serve different purposes, but ultimately, a patient registry is a platform to collect information from people who share the same condition and/or have similar experiences. In recent years, patient advocacy and rare disease organizations have become critical contributors to research through patient-driven registries. Often faced with financial barriers, these organizations have sought the most effective avenues to conduct research and create the most impact. Furthermore, these organizations consist of communities of volunteers who are enthusiastic to move research forward, and looking for ways to help, can create a resource unmatched in the clinical research arena.

Participating in a registry will mean answering some questions about your experience with the condition (from a few to over a hundred). Today many registries collect this information over the Internet; however, others may collect this information at a doctor’s office or by phone with a research assistant. Some registries may ask you to provide a copy of your medical records (or permission to release them), and you may also be asked to periodically update your health information.

You may be wondering where this information goes and how it helps to accelerate research. Some researchers just need information (or data) to test their theories, while others also need research participants to enroll in clinical trials. Registries can expedite the research process by providing researchers with valuable information and participants that would otherwise have been more difficult and time consuming to achieve.

The Preeclampsia Registry, for example, provides approved researchers with access to “de-identified” health information – information that does not contain participant names or contact information. This helps researchers to find patterns among preeclampsia survivors that can lead to findings and further studies. Researchers may also pose new questions to a large and willing audience, a strategy that usually takes much longer without a registry.

The Preeclampsia Registry also gives its participants the option of learning about other research studies of which they may qualify and provides them with the means of connecting with these researchers.

Most importantly, patient registries unite the patient voice with clinical research. Patients have questions, theories, and interests that are often different from investigators conducting formal research. By engaging patients in the research process, as we can through patient registries, the chances for discovery and improvement are an even greater possibility.

For more information about patient registries, visit http://www.nih.gov/health/clinicaltrials/registries.htm        

To learn more about The Preeclampsia Registry, go to www.preeclampsiaregistry.org

Participate in new surveys!

January 21, 2016

Researchers have new questions for you to answer!  We launched two new surveys-- one to help us better understand the patient journey, and the other to get your point of view on preeclampsia treatments and interventions.

Log-in to complete these surveys and add more pieces to the preeclampsia puzzle! 

**Only those who completed their first enrollment questionnaire will be eligible to complete this survey. 

You asked, we're answering: Is the MTHFR gene associated with preeclampsia?

January 07, 2016

The Preeclampsia Registry is committed to building a partnership between our participants and researchers. With this goal in mind, we're asking you to share any research ideas you may have --to do that, log in to preeclampsiaregistry.com and go to the Submit a Research Idea tab. We share these ideas with members of our Scientific Advisory Council and Medical Advisory Board. Keep your ideas coming and we'll follow up either directly or through an article such as this.Special thanks to Dr. James Robert, Co-chair of The Preeclampsia Registry's Scientific Advisory Council and member of the Preeclampsia Foundation's Medical Advisory Board, for his editorial assistance with this article.

Several genes in our bodies have been linked -- to varying degrees -- to our chance of developing preeclampsia.  A gene is a region of your DNA that holds the instruction manual for making proteins that are the building blocks of most of life's functions.  The MTHFR gene provides the instructions to make an enzyme called methylenetetrahydrofolate reductace (try saying that fast!).  This enzyme helps to process amino acids that are the building blocks of proteins.

Studies have shown that variations, or subtle differences, in the MTHFR gene are associated with increased risk for many common conditions including heart disease, stroke, high blood pressure, and preeclampsia,among several others. MTHFR helps metabolize folic acid that leads to the breakdown of an amino acid homocysteine. Homocysteine is increased with heart disease, stroke, high blood pressure, and preeclampsia. One variant of the gene for MTHFR is very common and makes a "weak enzyme"that doesn't work as well. It's thought that the weak enzyme leads to an increase in homocysteine, which explains why this gene variant is associated with cardiovascular disease and preeclampsia.

What does this have to do with preeclampsia?

Homocysteine is increased in preeclampsia and MTHFR mutations are more common in preeclampsia. However, it appears that the weak enzyme, if supplied with more folic acid (the amount available in prenatal vitamins), will work well enough to prevent higher homocysteine in normal pregnant women. Higher homocysteine is still present in women with preeclampsia but is not related to whether the woman has the abnormal gene or not.

What do we need to learn?

Despite the ability of folic acid to protect against high homocysteine, which is thought to be why the MTHFR gene variant is associated with preeclampsia, reports of an association of the abnormal gene and preeclampsia persist. This may be related to the vulnerable population not taking folic acid or there may be another effect of the abnormal gene.

What should you do with this information?

There are a few things to consider before running out and getting tested for variations in the MTHFR gene. First, there is the very real possibility that folic acid can reduce the risk. Second, the effect of MTHFR to increase the risk of preeclampsia is small. In analyses of available studies, the increased risk is 20 percent to 30 percent (compared to 300 percent with obesity). Talk to your doctor about the benefits and disadvantages of genetic testing. Discuss what you would do with the results and if they could potentially change any current treatment plans or affect future decisions. And be sure to take prenatal vitamins with at least 400 micrograms of folic acid if you are pregnant or planning to become pregnant.

Genetic testing can be costly and may not be covered by your insurance. Contact genetics labs to obtain their rates and check with your insurance to make sure you know ahead of time about any out-of-pocket costs.

Finally, every year scientists are learning and developing more efficient ways to study genetics and develop clinical tests. The Preeclampsia Foundation is dedicated to being at the forefront of preeclampsia research to bring you the most up-to-date information on scientific advances and breakthroughs.


1.  Ubeda N, Reyes L, Gonzalez-Medina A, Alonso-Aperte E and Varela-Moreiras G. Physiologic changes in homocysteine metabolism in pregnancy: A longitudinal study in Spain. Nutrition. 2011;27:925-930.

2.  Powers RW, Dunbar MS, Gallaher MJ and Roberts JM. The 677 C-T methylenetetrahydrofolate reductase mutation does not predict increased maternal homocysteine during pregnancy.Obstetrics & Gynecology. 2003;101:762-6.

3.  Yang BY, Fan SJ, Zhi XY, Li YF, Liu YY, Wang D, He M, Hou YY, Zheng QM and Sun GF. Associations of MTHFR Gene Polymorphisms with Hypertension and Hypertension in Pregnancy: A Meta-Analysis from 114 Studies with 15411 Cases and 21970 Controls. PlosOne. 2014;9.

4.   Wang XM, Wu HY and Qiu XJ.Methylenetetrahydrofolate Reductase (MTHFR) Gene C677T Polymorphism and Risk of Preeclampsia: An Updated Meta-analysis Based on 51 Studies. ArchMed Res. 2013;44:159-168.