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Developmental Medicine and Child... Apr 2020Fetal myelomeningocele (fMMC) closure (spina bifida aperta) has become a care option for patients that meet inclusion criteria, but it is clear that fetal intervention,... (Review)
Review
Fetal myelomeningocele (fMMC) closure (spina bifida aperta) has become a care option for patients that meet inclusion criteria, but it is clear that fetal intervention, while improving outcomes, is not a cure. This review will: (1) focus on the rationale for fMMC surgery based on preclinical studies and observations that laid the foundation for human pilot studies and a randomized controlled trial; (2) summarize important clinical outcomes; (3) discuss the feasibility, efficacy, and safety of recent developments in fetal surgical techniques and approaches; and (4) highlight future research directions. Given the increased risk of maternal and fetal morbidity associated with prenatal intervention, accompanied by the increasing number of centres performing interventions worldwide, teams involved in the care of these patients need to proceed with caution to maintain technical expertise, competency, and patient safety. Ongoing assessment of durability of the benefits of fMMC surgery, as well as additional refinement of patient selection criteria and counselling, is needed to further improve outcomes and reduce the risks to the mother and fetus. WHAT THIS PAPER ADDS: High-quality prospective studies are needed to broaden the indication for fetal surgery in the general myelomeningocele population. Innovative minimally invasive approaches have had promising results, yet lack comprehensive and robust experimental or clinical evaluation. Important information to help families make informed decisions regarding fetal surgery for myelomeningocele is provided.
Topics: Female; Fetoscopy; Fetus; Humans; Meningomyelocele; Pregnancy
PubMed: 31840814
DOI: 10.1111/dmcn.14429 -
Ultrasound in Obstetrics & Gynecology :... Jun 2023In-utero repair of open neural tube defects (ONTD) is an accepted treatment option with demonstrated superior outcome for eligible patients. While current guidelines... (Review)
Review
OBJECTIVE
In-utero repair of open neural tube defects (ONTD) is an accepted treatment option with demonstrated superior outcome for eligible patients. While current guidelines recommend genetic testing by chromosomal microarray analysis (CMA) when a major congenital anomaly is detected prenatally, the requirement for an in-utero repair, based on the Management of Myelomeningocele Study (MOMS) criteria, is a normal karyotype. In this study, we aimed to evaluate if CMA should be recommended as a prerequisite for in-utero ONTD repair.
METHODS
This was a retrospective cohort study of pregnancies complicated by ONTD that underwent laparotomy-assisted fetoscopic repair or open-hysterotomy fetal surgery at a single tertiary center between September 2011 and July 2021. All patients met the MOMS eligibility criteria and had a normal karyotype. In a subset of the pregnancies (n = 77), CMA testing was also conducted. We reviewed the CMA results and divided the cohort into two groups according to whether clinically reportable copy-number variants (CNV) were detected (reportable-CNV group) or not (normal-CMA group). Surgical characteristics, complications, and maternal and early neonatal outcomes were compared between the two groups. The primary outcomes were fetal or neonatal death, hydrocephalus, motor function at 12 months of age and walking status at 30 months of age. Standard parametric and non-parametric statistical tests were employed as appropriate.
RESULTS
During the study period, 146 fetuses with ONTD were eligible for and underwent in-utero repair. CMA results were available for 77 (52.7%) patients. Of those, 65 (84%) had a normal CMA and 12 (16%) had a reportable CNV, two of which were classified as pathogenic. The first case with a pathogenic CNV was diagnosed with a 749-kb central 22q11.21 deletion spanning low-copy-repeat regions B-D of chromosome 22; the second case was diagnosed with a 1.3-Mb interstitial deletion at 1q21.1q21.2. Maternal demographics, clinical characteristics, operative data and postoperative complications were similar between those with normal CMA results and those with reportable CNVs. There were no significant differences in gestational age at delivery or any obstetric and early neonatal outcome between the study groups. Motor function at birth and at 12 months of age, and walking status at 30 months of age, were similar between the two groups.
CONCLUSIONS
Standard diagnostic testing with CMA should be offered when an ONTD is detected prenatally, as this approach has implications for counseling regarding prognosis and recurrence risk. Our results indicate that the presence of a clinically reportable CNV should not a priori affect eligibility for in-utero repair, as overall pregnancy outcome is similar in these cases to that of cases with normal CMA. Nevertheless, significant CMA results will require a case-by-case multidisciplinary discussion to evaluate eligibility. To generalize the conclusion of this single-center series, a larger, multicenter long-term study should be considered. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Infant, Newborn; Female; Pregnancy; Humans; Child, Preschool; Retrospective Studies; Prenatal Care; Fetus; Meningomyelocele; Microarray Analysis; Prenatal Diagnosis; Multicenter Studies as Topic
PubMed: 36610024
DOI: 10.1002/uog.26152 -
Ultrasound in Obstetrics & Gynecology :... Jan 2021This observational study reports on the postnatal mortality and 30-month outcome of children who underwent fully percutaneous fetoscopic repair of myelomeningocele (MMC)... (Observational Study)
Observational Study
OBJECTIVE
This observational study reports on the postnatal mortality and 30-month outcome of children who underwent fully percutaneous fetoscopic repair of myelomeningocele (MMC) at a single center in Giessen, Germany.
METHODS
Between October 2010 and August 2014, a total of 72 patients underwent fully percutaneous fetoscopic MMC closure at 21 + 0 to 29 + 1 (mean, 23 + 5) weeks' gestation. Of these, 52 (72%) participated in this study; however, 30-month mortality data are available for all 72 children. Children were examined at four timepoints: shortly after birth and at 3 months, 12 months and 30 months of corrected age. The patients underwent age-specific standardized neurological examinations and assessment of leg movements and ambulation at all timepoints. Cognitive and motor development were assessed using the Bayley Scales of Infant Development, second edition (BSID-II), at 30 months.
RESULTS
All 72 children survived the intrauterine procedure, however, four (5.6%) infants died postnatally (including two of the 52 comprising the study cohort). Of the 52 patients included in the study, 11.5% were delivered before the 30 week of gestation (mean, 33 + 1 weeks) and, of the survivors, 48.1% had ventriculoperitoneal shunt placement. Of the 50 infants that were alive at 30 months, independent ambulation, without orthosis, was feasible for 46%. At 30 months of follow-up, 46% of children presented with a functional level that was at least two segments better than the anatomical level of the lesion. At 30 months, 70% of the children presented with BSID-II psychomotor development index score of ≥ 70 and 80% with BSID-II mental development index score of ≥ 70.
CONCLUSION
Intrauterine repair of MMC by percutaneous fetoscopy shows largely similar outcomes to those reported for open repair, with respect to mortality, prematurity, shunt-placement rates, motor and mental development and free ambulation. © 2020 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Child, Preschool; Fetal Diseases; Fetoscopy; Follow-Up Studies; Humans; Infant; Infant, Newborn; Infant, Premature; Meningomyelocele; Neurodevelopmental Disorders; Physical Functional Performance; Ventriculoperitoneal Shunt
PubMed: 32510722
DOI: 10.1002/uog.22116 -
Developmental Disabilities Research... 2010Spina bifida myelomeningocele (SBM) is a specific type of neural tube defect whereby the open neural tube at the level of the spinal cord alters brain development during... (Review)
Review
Spina bifida myelomeningocele (SBM) is a specific type of neural tube defect whereby the open neural tube at the level of the spinal cord alters brain development during early stages of gestation. Some structural anomalies are virtually unique to individuals with SBM, including a complex pattern of cerebellar dysplasia known as the Chiari II malformation. Other structural anomalies are not necessarily unique to SBM, including altered development of the corpus callosum and posterior fossa. Within SBM, tremendous heterogeneity is reflected in the degree to which brain structures are atypical in qualitative appearance and quantitative measures of morphometry. Hallmark structural features of SBM include overall reductions in posterior fossa and cerebellum size and volume. Studies of the corpus callosum have shown complex patterns of agenesis or hypoplasia along its rostral-caudal axis, with rostrum and splenium regions particularly susceptible to agenesis. Studies of cortical regions have demonstrated complex patterns of thickening, thinning, and gyrification. Diffusion tensor imaging studies have reported compromised integrity of some specific white matter pathways. Given equally complex ocular motor, motor, and cognitive phenotypes consisting of relative strengths and weaknesses that seem to align with altered structural development, studies of SBM provide new insights to our current understanding of brain structure-function associations.
Topics: Arnold-Chiari Malformation; Brain; Cerebellum; Corpus Callosum; Humans; Magnetic Resonance Imaging; Meningomyelocele; Nerve Net; Neural Pathways; Spinal Dysraphism
PubMed: 20419768
DOI: 10.1002/ddrr.88 -
Beijing Da Xue Xue Bao. Yi Xue Ban =... Aug 2023To summarize the clinical manifestation, classification, and experience of surgical treatment of primary tethered cord syndrome (TCS) in adults.
OBJECTIVE
To summarize the clinical manifestation, classification, and experience of surgical treatment of primary tethered cord syndrome (TCS) in adults.
METHODS
The authors retrospectively analyzed a series of 171 adult patients with primary TCS who were surgically treated under microscope from March 2007 to October 2019. There were 61 males and 110 females whose ages were 18-65 years, with an average age of (39.02±11.81) years. Clinically, the patients presented with various neurological symptoms and signs including lower back and legs pain, reflex changes, sensory disturbances, muscle weakness, and sphincter problems. They were divided into 5 types by clinical manifestations and neuro-imaging features: (1) filum terminale traction in 69 cases, (2) split cord malformation in 21 cases, (3) myelomeningocele in 20 cases, (4) lipomyelomeningocele in 36 cases, and (5) dermal sinus traction in 25 cases. All the patients underwent microsurgery to untether the spinal cord. The patients kept prone position 7 days postoperatively. The Kirollos grading was used to evaluate the outcome of intraoperative untethering. The visual analogue scale (VAS) was used to evaluate the pain, the score of critical muscle strength was used to evaluate the lower extremity motor function, and the Japanese Orthopaedic Association (JOA) sphincter function score was used to evaluate the bladder function.
RESULTS
All of the 171 patients were treated with microsurgery to release the adhesion and cut off the filum terminalis. 61 cases of them received resection of the lesions according to the etiology. All the tethered spinal cord reached Kirollos grade Ⅰ untethering and the dural sac was reconstructed. Other than 5 patients had cerebrospinal fluid leakage and incision laceration and underwent re-suture, there was no surgical complication. The local pain was relieved, the lower limbs weakness or bowel and bladder dysfunction gradually recovered postoperatively. The period of follow-up ranged from 6 months to 12.5 years with an average of (5.62±2.31) years. The neurological function was improved in 153 cases and stable in 18 cases. There was no recurrence of tethered cord be found during the follow-up period.
CONCLUSION
The primary TCS in adulthood could be classified into 5 types by clinical manifestations and neuro-imaging features and surgical treatment should be undertaken in regard to the classifications including dissection and resection of the lesion detethering the spinal cord and reconstruction of the dura sac under microscope. The outcome of surgical treatment is satisfactory.
Topics: Male; Female; Humans; Adult; Middle Aged; Retrospective Studies; Treatment Outcome; Meningomyelocele; Neural Tube Defects; Pain
PubMed: 37534645
DOI: 10.19723/j.issn.1671-167X.2023.04.012 -
Fetal Diagnosis and Therapy 2017The Management of Myelomeningocele Study (MOMS Trial) has inspired many fetal therapy centers (FTCs) to offer open fetal surgery for myelomeningocele (MMC). This is an... (Review)
Review
OBJECTIVES
The Management of Myelomeningocele Study (MOMS Trial) has inspired many fetal therapy centers (FTCs) to offer open fetal surgery for myelomeningocele (MMC). This is an initial effort to create a candidate model that can be applicable to many parts of Asia.
MATERIAL AND METHODS
A limited selection of specialists from 4 established FTCs in Thailand, Hong Kong, India, and Singapore met for a round table discussion. Experts from Children's Hospital of Philadelphia (CHOP) involved in the Trial moderated the session. The practice suggestions in this statement were from a targeted literature review and expert opinion.
RESULTS
A high prevalence of MMC in Asia supports an effort to adopt the procedure, but only in established FTCs with good maternal and neonatal ancillary supports. The falling incidence of MMCs may affect case volume and maintenance of skill. A regional approach was recommended. Fetal benefits have to be weighed against maternal risks, with a consideration of recent outcome data from the endoscopic approach. Responsible FTCs need standardized diagnosis and management, with their long-term outcome data available for an audit.
CONCLUSIONS
It is envisaged that the information presented by this multidisciplinary team would be useful for FTCs in Asia or elsewhere that plan to establish more advanced fetal care in the future.
Topics: Asia; Female; Fetoscopy; Humans; Meningomyelocele; Pregnancy; Prenatal Care; Singapore
PubMed: 28219061
DOI: 10.1159/000452218 -
Ultrasound in Obstetrics & Gynecology :... Jun 2020Linked Comment: Ultrasound Obstet Gynecol 2020; 55:730-739.
Linked Comment: Ultrasound Obstet Gynecol 2020; 55:730-739.
Topics: Clinical Competence; Female; Fetoscopy; Humans; Learning Curve; Meningomyelocele; Pregnancy
PubMed: 32478981
DOI: 10.1002/uog.22068 -
Fetal Diagnosis and Therapy 2011Myelomeningocele (MMC), one of the most common congenital malformations, can result in severe lifelong disabilities,including paraplegia, hydrocephalus, Chiari II... (Review)
Review
Myelomeningocele (MMC), one of the most common congenital malformations, can result in severe lifelong disabilities,including paraplegia, hydrocephalus, Chiari II malformation(CM-II), incontinence, sexual dysfunction, skeletal deformations and mental impairment. MMC was the first nonlethal anomaly to be treated by fetal surgery. Experimental and clinical evidence suggests that the primary cause of the neurologic deficit associated with MMC is not simply incomplete neurulation but rather chronic mechanical injury and amniotic fluid-induced chemical trauma that progressively damages the exposed neural tissue during gestation. Case series and a prospective, randomized study show that fetal surgery for MMC before 26 weeks' gestation may preserve neurologic function, reverse the hindbrain herniation of the CM-II and obviate the need for postnatal placement of a ventriculoperitoneal shunt. However, these studies also demonstrate that fetal surgery is associated with significant maternal and fetal risks. Consequently, further research is warranted to further expand our understanding of the pathophysiology of MMC, to evaluate the long-term impact of in utero intervention and to refine the timing and technique of fetal MMC surgery.
Topics: Animals; Clinical Trials as Topic; Fetal Diseases; Fetoscopy; Humans; Meningomyelocele; Models, Animal; Patient Selection; Perioperative Care; Sheep; Treatment Outcome
PubMed: 21849764
DOI: 10.1159/000329785 -
Topics in Spinal Cord Injury... 2022Spina bifida is a congenital neural tube defect that affects the spine and spinal cord, as well as the brain in many cases, with life-long health-related consequences....
Spina bifida is a congenital neural tube defect that affects the spine and spinal cord, as well as the brain in many cases, with life-long health-related consequences. In most cases, the term refers to open myelomeningocele but includes a spectrum of dysraphic conditions. Early recognition and comprehensive care improve long-term health, well-being, and quality of life and decrease the use of emergency services and hospitalizations over the lifespan. Current evidence-based care guidelines are comprehensive, but they are not easily interpreted in busy primary care settings. The development of a periodicity schedule serves to simplify the current spina bifida guidelines into a document that is easy to use by all practitioners and families.
Topics: Humans; Meningomyelocele; Quality of Life; Spinal Cord Injuries; Spinal Dysraphism
PubMed: 36017126
DOI: 10.46292/sci21-00097 -
The Pan African Medical Journal 2022
Topics: Humans; Meningomyelocele
PubMed: 36879634
DOI: 10.11604/pamj.2022.43.171.38082