In utero repair of spina bifida
1Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Insights
Fetal surgery for open spina bifida (myelomeningocele) offers a new standard of care. In utero repair can improve neurologic outcomes and reduce the need for shunting in infants.
Area of Science:
- Neuroscience
- Developmental Biology
- Surgical Innovation
Background:
- Open spina bifida (myelomeningocele) is a common birth defect causing lifelong disability.
- Current postnatal care aims to manage symptoms but does not reverse neurological damage.
- The two-hit hypothesis suggests prenatal damage contributes significantly to MMC-related neurological deficits.
Purpose of the Study:
- To explore the rationale and evolution of in utero repair for open spina bifida.
- To present evidence supporting fetal surgery as an alternative standard of care.
- To discuss future directions in fetal spina bifida repair.
Main Methods:
- Review of animal models and human pilot studies demonstrating feasibility.
- Analysis of the Management of Myelomeningocele Study (MOMS trial) results.
- Highlighting the progression from concept to clinical application.
Main Results:
- In utero repair demonstrated feasibility in preclinical and pilot studies.
- The MOMS trial showed reduced need for shunting and improved neurological function.
- Fetal repair led to reversal of hindbrain herniation.
Conclusions:
- In utero repair is an accepted alternative standard of care for select cases of fetal spina bifida.
- Fetal surgery can mitigate antenatal neurological damage.
- Further research will refine and expand fetal spina bifida repair techniques.
Abstract:
Open spina bifida or myelomeningocele (MMC) is the most common congenital malformation of the central nervous system compatible with long-term survival and is associated with significant lifelong disabilities. Postnatal care of MMC involves covering the exposed spinal cord, infection prevention, and ventricular shunting for hydrocephalus. The aim of postnatal MMC surgery is not to reverse or prevent the neurologic injury seen in MMC, but to palliate. The neurologic defects result from primary incomplete neurulation and secondary chronic in utero damage to the exposed neural elements through mechanical and chemical trauma-the two-hit hypothesis. With the ability to accurately diagnose spina bifida prenatally and the concept of the two-hit hypothesis, in utero repair to decrease exposure and alter the antenatal course of neurologic destruction was conceived. Through animal models and human pilot studies, the feasibility of fetal spina bifida repair was demonstrated. Subsequently, the prospective randomized multicenter Management of Myelomeningocele Study (MOMS trial) revealed a decreased need for shunting, reversal of hindbrain herniation, and preservation of neurologic function, making in utero repair an accepted care alternative for select women carrying a fetus with spina bifida. This article will highlight the background and rationale for in utero repair, and the progression to becoming an alternative standard of care. The future directions of fetal spina bifida repair will also be addressed.
