Fetal myelomeningocele: natural history, pathophysiology, and in-utero intervention
1Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine, 34th Street & Civic Center Blvd, Philadelphia, PA 19104, USA. adzick@email.chop.edu
Insights
Fetal surgery for myelomeningocele (MMC) shows potential benefits like improved hindbrain herniation and reduced hydrocephalus. However, its true effectiveness requires further research and is being evaluated in ongoing trials.
Area of Science:
- Neuroscience
- Developmental Biology
- Surgical Innovation
Background:
- Myelomeningocele (MMC), a severe birth defect, leads to lifelong health issues.
- Current postnatal surgical management for spina bifida has seen limited advancements.
- Standard postnatal care involves spinal cord closure, infection prevention, and hydrocephalus treatment via shunts.
Purpose of the Study:
- To evaluate the emerging technique of in-utero repair for open spina bifida.
- To assess the potential benefits and limitations of fetal surgery for MMC.
Main Methods:
- Review of preliminary data from approximately 400 worldwide fetal MMC repair procedures.
- Ongoing randomized prospective trial (MOMS trial) comparing in-utero repair with standard postnatal care.
Main Results:
- Preliminary findings suggest fetal surgery may reverse Chiari II malformation and decrease hydrocephalus requiring shunts.
- Potential improvements in leg function are noted, though possibly influenced by patient selection bias.
- The long-term impact and definitive benefits of in-utero MMC repair are yet to be conclusively established.
Conclusions:
- In-utero repair of myelomeningocele offers a potential alternative to postnatal surgery.
- Further research, including data from the MOMS trial, is crucial to validate the benefits and optimal application of fetal MMC repair.
- Understanding MMC pathophysiology and refining surgical techniques are key for future advancements.
Abstract:
Myelomeningocele (MMC) is a common birth defect that is associated with significant lifelong morbidity. Little progress has been made in the postnatal surgical management of the child with spina bifida. Postnatal surgery is aimed at covering the exposed spinal cord, preventing infection, and treating hydrocephalus with a ventricular shunt. In-utero repair of open spina bifida is now performed in selected patients and presents an additional therapeutic alternative for expectant mothers carrying a fetus with MMC. It is estimated that about 400 fetal operations have now been performed for MMC worldwide. Despite this large experience, the technique remains of unproven benefit. Preliminary results suggest that fetal surgery results in reversal of hindbrain herniation (the Chiari II malformation), a decrease in shunt-dependent hydrocephalus, and possibly improvement in leg function, but these findings might be explained by selection bias and changing management indications. A randomized prospective trial (the MOMS trial) is currently being conducted by three centers in the USA, and is estimated to be completed in 2010. Further research is needed to better understand the pathophysiology of MMC, the ideal timing and technique of repair, and the long-term impact of in-utero intervention.
