Boston Children's Hospital and the Advanced Fetal Care Center are committed to cutting-edge clinical research and innovative medicine and surgery. We want to make a difference in your prenatal care, the care of your baby-to-be and the care of generations to come. The goal is to continue to find ways to detect and treat fetal disorders through medical and surgical innovation.
Clinical research studies
Click the following links for descriptions of some of the research currently underway at Boston Children's Hospital and the Advanced Fetal Care Center.
Completed research studies
These studies are completed and no longer seeking participants. Click to read a summary of the goals and findings.
Innovation in care
Innovative surgical and medical treatments are at the heart of Children's and the AFCC.
- November 2005 - First placement of a cardiac devise in utero
In a first-of-its kind procedure on November 7, 2005, cardiologists from Boston Children's Hospital and high-risk obstetrical specialists from Brigham and Women's Hospital placed a tiny stent in the heart of a 30-week fetus with a major congenital heart defect. The fine mesh tube, approximately 9 mm by 2.5 mm, was used to prop open a hole in the atrial septum (the wall between the heart's upper chambers) in an attempt to prevent permanent damage to the fetus's fragile lungs and pulmonary vessels in the final weeks of gestation.
- December 2001 - EXIT to ECMO for Congenital Cystic Adenomatoid Malformation (CCAM)
When diagnostic tests on a fetus revealed a large mass of abnormal lung tissue called a congenital cystic adenomatoid malformation (CCAM), the Advanced Fetal Care Center team prepared to use a combination of procedures called EXIT to ECMO for the first time on this type of growth. Although the growth was benign (non-cancerous), it was so massive that the heart was pushed to one side and blood vessels were compressed, making the lungs, heart and vessels work increasingly harder to circulate blood. Fortunately, the heart was able to sustain the fetus until 36 weeks. Upon delivery, physicians used the EXIT (ex utero intrapartum treatment) procedure to partially deliver the fetus through Cesarean section. Physicians immediately placed the infant on ECMO (extra corporeal membranous oxygenation), a heart and lung bypass system that circulates oxygenated blood throughout the body. Once ECMO was functioning, the umbilical cord was cut, the mother's Cesarean section was completed and she moved into recovery. With ECMO, team members were then able to remove the growth and give the infant's heart, vessels and lungs time to develop and heal.
- September 2001 - Heart Defect Repair for Unborn Child
Children's physicians repaired a critical heart valve defect in a fetus - the first time this type of surgery was performed successfully in the United States. The aortic valve, which regulates the flow of oxygen-rich blood from the heart to the rest of the body, was unusually narrow and was expected to lead to a critical condition called hypoplastic left heart syndrome (HLHS), in which most of the structures on the left side of the heart are small and underdeveloped. Advanced Fetal Care Center physicians repaired the narrowed valve through a needle inserted into the mother's abdomen during the 23rd week of fetal development. Using ultrasound technology to guide them, the team placed a small balloon through the needle and inflated it to widen the valve opening. The infant was born in November 2001, six weeks early, but with a healthy, functioning heart.
- November 2000 - EXIT to ECMO for a Congenital Diaphragmatic Hernia
The Advanced Fetal Care Center team has extensive experience treating congenital diaphragmatic hernias (CDH), and the team is the first to use a combination of procedures called EXIT to ECMO to treat this condition. A hole in the diaphragm allowed the contents of the abdomen, including the stomach, intestines, liver and spleen to protrude into the chest. This prevented normal lung development, and physicians determined that the infant would be unable to breathe effectively at birth. During the EXIT (ex utero intrapartum treatment) procedure, the fetus was partially delivered through Cesarean section. AFCC physicians placed the infant on ECMO (extra corporeal membranous oxygenation), a heart and lung bypass system that circulates oxygenated blood throughout the body. Once ECMO was functioning, the umbilical cord was cut, the mother's Cesarean section was completed and she moved into recovery. With ECMO, team members were able to repair the CDH and give the infant's lungs time to develop.
- March 2000 - EXIT to ECMO for a Bronchogenic Cyst
The Advanced Fetal Care Center team at Boston Children's Hospital was the first to use a combination of procedures called EXIT to ECMO to treat a bronchogenic cyst, a growth that invaded the fetal trachea, causing complete airway obstruction. During the EXIT (ex utero intrapartum treatment) procedure, the fetus was partially delivered through Cesarean section. The fetus continued to survive on placental circulation until the airway was examined. Because the newborn's airway was found to be completely obstructed, physicians immediately placed the infant on ECMO (extra corporeal membranous oxygenation), a heart and lung bypass system that circulates oxygenated blood throughout the body. Once ECMO was functioning, the umbilical cord was cut, the mother's Cesarean section was completed and the mother was moved into recovery. When the infant's condition stabilized on ECMO, members of the AFCC surgical team removed the growth, allowing a normal airway to develop.
Genetic Study on Congenital Diaphragmatic Hernia (CDH)
Principal Investigators Dr. Jay Wilson and Dr. Barbara Pober are interested in trying to uncover the genetic causes of congenital diaphragmatic hernia (CDH). Through this study they hope to improve the outcomes for the next generations of persons born with CDH.
In order to participate, you will need to:
- fill out a questionnaire about your medical and family history.
- give us permission to review medical records about your prenatal history.
- if you/your family member with CDH is a patient at Boston Children's Hospital, allow us to perform a brief physical exam.
- allow us to collect samples from the person with CDH to test for changes in genes associated with poor lung development and CDH. Samples to be collected could include: blood, or a small skin sample (about the size of the end of a match stick) taken at the time of surgery, and a urine sample.
- allow us to collect a blood sample for genetic analyses from both parents of the individual with CDH, as well as possibly from his/her siblings (since changes in genes are best detected by comparing samples between family members).
- offer approximately one hour of your time: collection of blood or tissue samples and physical exam of your baby will be taken after your baby is born.
There is no cost to you (or your insurance company) to participate
There is no direct/immediate benefit to you from participating in this study; however, we hope that our findings may benefit others with CDH in the future.
For more information about our CDH Study, please contact one of the following staff members:
Related Research and News from Children's
The archive of the Congenital Diaphragmatic Hernia Study Newsletter (or CDH News) is a tremendous resource for families interested in the study's progress and discoveries. Click here to download issues dating back to 2006.
- Kantarci S, Ackerman KG, Russell MK, Longoni M, Sougnez C, Noonan KM, Hatchwell E, Zhang X, Pieretti Vanmarcke R, Anyane-Yeboa K, Dickman P, Wilson J, Donahoe PK, Pober BR. Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. Am J Med Genet A. 2010 Oct; 152A(10): 2493-504. PMID: 20799323 [PubMed - indexed for MEDLINE]
- Pober BR. Genetic aspects of human congenital diaphragmatic hernia. Clin Genet. 2008 Jul; 74(1): 1-15. Epub 2008 May 28. Review. PMID: 18510546 [PubMed - indexed for MEDLINE]
- Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet. 2007 Aug; 39(8): 957-9. Epub 2007 Jul 15. PMID: 17632512 [PubMed - indexed for MEDLINE]
Efficacy of Omegaven
Principal Investigator Dr. Mark Puder is interested in identifying the positive and negative effects of an intravenous fat solution, Omegaven, on Children's who receive their nutrition intravenously (a method called parenteral nutrition). The solution is currently not approved by the Food and Drug Administration (FDA). Information from this research will help determine whether the drug should be approved by the FDA in the future.
Many children who are recovering from complex intestinal surgery or are awaiting intestinal transplant can't eat food. That's because the intestine they do have can't adequately perform its part in the digestion of solid foods. These children are placed on an intravenous method of feeding called pareneteral nutrition (PN).
PN provides the necessary nutrition for children until their digestive systems adapt and they can eat on their own.
PN has revolutionized treatment for diseases such as short bowel syndrome. But its prolonged use often damages the liver, potentially leading to liver failure and the need for a transplant. And unfortunately, infants are at the greatest risk.
Back in 2001, surgeon Mark Puder, MD, surgical resident Jenna Garza, MD, and pharmacist Kathy Gura, PharmD, decided to conduct studies in mice to see why PN was causing liver disease.
They found evidence that the fat used in congruence with standard PN solutions, called Intralipid, was contributing to liver disease by causing fat to accumulate in the liver.
They then tested Omegaven, an IV fat mixture made from fish oil. Fish oil contains omega-3 fatty acids, which have been shown to prevent fat accumulation and have anti-inflammatory properties.
As they hoped, PN using Omegaven as the fat prevented and treated liver injury in the mice.
Surgeon Rusty Jennings, MD, director of Children's Esophageal Atresia Treatment Program and consultant to the Advanced Fetal Care Center, had heard of Puder's research and wanted to try Omegaven in one of his patients. Since Omegaven wasn't approved for use in the U.S., Puder had to receive special permission from the FDA to use Omegaven rather than Intralipid along with the PN solution.
Within two months, the baby's liver function improved so much that he was removed from the liver transplant list.
Puder later treated a second child, a premature baby whose bowel had ruptured; he too had complete resolution of liver disease.
Puder and colleagues are now conducting a formal clinical trial, and have received funding from the March of Dimes and the FDA Ophan Products Division aimed at preventing liver disease in PN recipients. Their work has caused a worldwide shift in treatment.
More than 150 children at Boston Children's Hospital have received Omegaven, and more than 90 percent of them are still alive.
- Meet Ellie, an active, thriving fan of Omegaven, in this patient profile video produced by The Boston Globe.
For More Information
For more information about the Omegaven study, please email one of the research coordinators:
Evolution of Cerebral Development in Twin-Twin Transfusion Syndrome (TTTS)
In this study, conducted in collaboration with the Fetal-Neonatal Neuroimaging & Developmental Science Center, we aim to study the evolution of brain injury in babies and its effect on normal brain development while the baby is still in the mother's womb. We will study how a fetal disease, Twin-Twin Transfusion Syndrome (TTTS), injures the fetal brain and impacts its further development.
TTTS is a disorder affecting identical twins from fetal life and has serious impacts on a baby's general health resulting in high rates of morbidity (30%). Babies surviving TTTS have a very high risk of abnormal neurological function (20%). This risk has not decreased despite improvements in obstetric and neonatal care in recent decades. Little is known about the evolution of fetal brain injury and its impact on fetal brain development. Care providers have limited means to prevent the injury on the fetal brain.
We will study the impact of TTTS on the developing fetal brain by implementing a novel imaging technique known as quantitative fetal MRI. This technology enables us to detect fetal brain injury in detail, allowing physicians to determine the appropriate timing and intervention for fetuses and newborns affected by TTTS. We will also study long-term neurodevelopmental outcomes of these babies and clarify the relationship of these outcomes to abnormal brain development and injury in fetal life. The findings from this study will provide an efficient monitoring tool of fetal brain development and injury. This will eventually enable physicians to provide useful information to improve long-term neurological health and function of babies affected by brain injury in the womb. This new approach has applications for other types of fetal brain injury, including the potential to detect and manage babies at risk of brain injury before they are born and improve their long-term developmental potential.
Maternal immune correlates of protection against congenital cytomegalovirus (CMV)
- Sallie R. Permar, MD, PhD, Division of Infectious Diseases
- Sandra K. Burchett, MD, MSc, Division of Infectious Diseases
- Judy A. Estroff, MD, Department of Radiology
- Margaret A. Kenna, MD, MPH, FACS, FAAP, Otolaryngology and Communication Enhancement
In this study, we seek to determine how the mother's immune system can prevent transmission of cytomegalovirus (CMV) to infants during pregnancy. CMV is a virus that can cause a mononucleosis-like illness in adults, but most individuals have no symptoms of infection. CMV exposure is extremely common, as over half of U.S. adults test positive for previous CMV exposure. This virus can be passed to infants during pregnancy and can lead to problems with the infant's hearing, cognitive and motor skills. It is our hope that this study will help scientists better understand how the immune system can prevent mother-to-infant CMV transmission during pregnancy, information that is important to developing a maternal vaccine for CMV.
For more information, email Dr. Permar.
Tissue engineered diaphragms for treatment of congenital diaphragmatic hernia
Dario Fauza, MD, of the Department of Surgery, is currently investigating the use of mesenchymal amniocytes to engineer diaphragms for the treatment of congenital diaphragmatic hernia (CDH).
Watch the video below about the graft that keeps on giving.
Participation in this study is anticipated to begin in the spring of 2011. Participation details forthcoming.
Identifying posterior fossa anomalies through current fetal imaging (completed)
In conjunction with the AFCC, specialists within the Fetal-Neonatal Neurology Research program wished to determine how accurately diagnoses made by prenatal ultrasound, prenatal MRI and postnatal MRI agreed with one another in suspected cases of posterior fossa anomalies.
This study is completed and no longer seeking participants. You may read about some of the findings by clicking here.