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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 -
Turkish Neurosurgery 2020To investigate the relationship between the distribution of ABO or Rhesus (Rh) blood group antigens and the incidence of myelomeningocele.
AIM
To investigate the relationship between the distribution of ABO or Rhesus (Rh) blood group antigens and the incidence of myelomeningocele.
MATERIAL AND METHODS
A retrospective data was reviewed for all myelomeningocele patients operated at a tertiary academic hospital between years 2014 and 2019. Age, sex, delivery method, physical and neurological examination findings, and radiological findings alongside with blood type of each patient were recorded. The data of blood group distribution among the study patients was compared to the data of healthy individuals in the same region.
RESULTS
Patients with group B and AB showed a higher chance of developing myelomeningocele. Rh-positive blood group was associated with high incidence of myelomeningocele (93.5%), whereas Rh-negative blood group showed least association (6.5%). Rh-positive blood group was also found to be more frequent in patients with myelomeningocele with hydrocephalus and Chiari malformation.
CONCLUSION
The findings of this study show that ABO and Rh blood groups have an effect on the development of myelomeningocele under the influence of environmental or genetic factors.
Topics: ABO Blood-Group System; Adult; Female; Humans; Incidence; Male; Meningomyelocele; Retrospective Studies; Rh-Hr Blood-Group System; Young Adult
PubMed: 32239487
DOI: 10.5137/1019-5149.JTN.28913-19.2 -
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 -
Journal of Neurosurgery. Pediatrics May 2022Patients with myelomeningocele often require multiple surgeries, but no study has clarified the kind of treatment given to these patients throughout their lives. The...
OBJECTIVE
Patients with myelomeningocele often require multiple surgeries, but no study has clarified the kind of treatment given to these patients throughout their lives. The authors analyzed the type of surgery that was performed and at what age for Japanese patients with myelomeningoceles.
METHODS
The Japanese health claims data of 556 patients with myelomeningocele for the period from January 2005 to March 2020 provided by the Japan Medical Data Center Co., Ltd., were examined to investigate the number of surgeries performed and the patient age at surgery for each specialty. The patients were divided into two groups (those ≤ 18 years old [group A] and those > 18 years old [group B]), and the way in which the types of surgery and the percentage of surgeries changed between these two groups was examined.
RESULTS
The mean follow-up period was 4.4 years. The mean age at the end of the overall follow-up was 18.6 years (range 0-70.5 years), and 1033 surgeries were performed on 294 patients (0.42 surgeries performed per patient per year) during this period. The number of surgeries for patients in group A was 818 in 192 patients, with 0.62 surgeries per patient per year, and for patients in group B it was 215 in 102 patients, with 0.19 surgeries per patient per year. The number of surgeries and the mean age at the time of surgery were as follows: 313 neurosurgeries, 5.16 years; 280 orthopedic surgeries, 11.36 years; 70 urological surgeries, 14.57 years; and 202 dermatological/plastic surgeries, 16.19 years. In the surgeries related to myelomeningocele, the rates of CSF shunt placement, tethered cord release, muscle and tendon surgery, and other bone and joint surgery decreased significantly in group B, but they continued to undergo these surgeries. In group B, the rates of skin surgery, nephrostomy, ureterostomy, and cystostomy were significantly higher.
CONCLUSIONS
A significant number of surgeries in multiple specialties related to myelomeningocele continue to be performed in adulthood, indicating that these patients require continuous care throughout their lives.
Topics: Humans; Infant, Newborn; Infant; Child, Preschool; Child; Adolescent; Young Adult; Adult; Middle Aged; Aged; Meningomyelocele; Neural Tube Defects; Ventriculoperitoneal Shunt; Orthopedic Procedures; Reoperation
PubMed: 35180700
DOI: 10.3171/2021.12.PEDS21535 -
The Journal of Maternal-fetal &... May 2021This study compared the morbidities and financial burden associated with prenatal open myelomeningocele repair versus postnatal repair.
OBJECTIVE
This study compared the morbidities and financial burden associated with prenatal open myelomeningocele repair versus postnatal repair.
MATERIALS AND METHODS
The retrospective study cohort included 23 mother-infant dyads undergoing prenatal repair and 30 with postnatal repair. Financial, demographic, and medical information were obtained for mother-infant dyads from each infant's birth through the first year of life.
RESULTS
Infants in the prenatal repair group were significantly affected by sequelae of prematurity, including apnea, bronchopulmonary dysplasia, and retinopathy of prematurity. Importantly, fewer of these infants required ventriculoperitoneal shunt procedures and the overall improved composite outcome of shunting or death. Infants in the postnatal repair group required more hospital readmissions in the first year of life. Financial costs for mother-infant dyads in the prenatal repair group were higher, driven by the length of stay in the neonatal intensive care unit and maternal hospital admissions. Kaplan-Meier curves analyzing the relative contributions of the length of stay and total charges in the population were constructed. The maternal contribution was markedly different between groups due to postoperative hospitalization, readmission, and close fetal surveillance required. Though these differences did not reach statistical significance, it highlights an important burden on families and the medical system.
CONCLUSIONS
This is the first study to report the contributions of prematurity in relation to maternal and infant morbidity and financial costs. The benefits of prenatal myelomeningocele repair include lower risk for ventriculoperitoneal shunting and fewer hospital readmissions. The risk of preterm birth and its neonatal sequelae continue to be a significant burden.
Topics: Female; Humans; Infant; Infant, Newborn; Meningomyelocele; Morbidity; Pregnancy; Premature Birth; Retrospective Studies; Ventriculoperitoneal Shunt
PubMed: 31345076
DOI: 10.1080/14767058.2019.1645827 -
Child's Nervous System : ChNS :... May 2022Ultrasound is the primary method for prenatal identification of myelomeningocele and is critical to prognostication and treatment planning. No study has considered the...
PURPOSE
Ultrasound is the primary method for prenatal identification of myelomeningocele and is critical to prognostication and treatment planning. No study has considered the degree of inaccuracy of prenatal US lesion level estimates and anatomic lesion level on postnatal imaging using the weighted kappa coefficient (κw), nor the impact of maternal BMI on agreement. We examined the accuracy of prenatal ultrasound lesion level estimation in a cohort of patients with myelomeningocele using κw and determined whether BMI influenced accuracy.
METHODS
The study is a retrospective review including patients born 2011-2019 who had prenatal imaging and primary myelomeningocele closure at a single institution. Lesion levels from prenatal ultrasound and postnatal imaging studies were analyzed for agreement at exact level, within 1 level, and within 2 levels using κw. Maternal BMI was examined for correlation with accuracy.
RESULTS
Fifty-seven patients met inclusion criteria. Mean BMI was 31.2. There was no association between maternal BMI and agreement at any level. Lesion level on prenatal ultrasound agreed with postnatal imaging to the exact level in 13 (22.8%) cases, within 1 level in 38 (66.7%) cases, and within 2 levels in 50 (87.7%) cases. Weighted kappa showed moderate agreement at exact level (κ = 0.494) and substantial agreement within 1 (κ = 0.761) and 2 levels (κ = 0.902).
CONCLUSION
Weighted kappa adds confidence for clinical decision making by accounting for accuracy. Prenatal ultrasound is a reliable and accurate method of determining lesion level with near-perfect agreement to postnatal imaging within 2 spinal levels. Maternal BMI may not influence lesion level determination after initial diagnosis.
Topics: Female; Humans; Meningomyelocele; Pregnancy; Retrospective Studies; Spine; Ultrasonography, Prenatal
PubMed: 35178598
DOI: 10.1007/s00381-022-05469-9 -
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 -
Birth Defects Research Nov 2019The neural tube defects (NTDs) are a heterogeneous group of structural birth defects that arise from a complex array of multiple genetic and environmental factors and... (Review)
Review
BACKGROUND
The neural tube defects (NTDs) are a heterogeneous group of structural birth defects that arise from a complex array of multiple genetic and environmental factors and adversely affect the structure and function of the brain and spinal cord. Spinal NTDs are clinically more common than cranial NTDs. There remains a significant gap in linking the multiple NTD phenotypes to current genomic understanding.
METHODS
This article summarizes the neurosurgical clinical approach to spinal NTDs by correlating each step of embryonic development of the human nervous system with key management concepts for defects that arise at that step.
RESULTS
The NTDs are broadly classified as open or closed. Open defects include myelomeningocele (MMC), encephalocele, and anencephaly. Closed defects are also known as occult spinal dysraphism and are characterized by intact skin over the spinal defect. They are more common and often cause neurologic decline from tethered cord syndrome. Failure of primary neurulation gives rise to open myelomeningocele (MMC). Surgical closure of an open MMC focuses on realigning the tissue layers that failed to separate during neurulation. In utero closure is a promising recent technique. Chronic neurosurgical management largely focuses treating hydrocephalus. The Chiari II malformation is uniformly present in MMC patients and may cause brainstem dysfunction. Tethered spinal cord may progressively impair normal neurologic function but typically responds well to surgical untethering.
CONCLUSIONS
Surgical closure of MMC centers on approximated realignment of embryologically disordered neural tissue. Clinical surgical management decisions in the spinal NTDs remains challenging but standardized principles have emerged.
Topics: Anencephaly; Brain; Ectoderm; Embryo, Mammalian; Embryonic Development; Encephalocele; Female; Gastrulation; Humans; Hydrocephalus; Male; Meningomyelocele; Mesoderm; Neural Tube Defects; Neurulation; Pregnancy; Spinal Cord; Spine
PubMed: 31576681
DOI: 10.1002/bdr2.1588 -
Journal of Neurosurgery. Pediatrics Jun 2022Relatively few women undergo open maternal-fetal surgery (OMFS) for myelomeningocele (MMC) despite the potential to reverse hindbrain herniation, reduce the rate of...
OBJECTIVE
Relatively few women undergo open maternal-fetal surgery (OMFS) for myelomeningocele (MMC) despite the potential to reverse hindbrain herniation, reduce the rate of infant shunt-dependent hydrocephalus, and improve ambulation. These benefits have the potential to significantly reduce morbidity and lifetime medical care. In this study, the authors examined demographics and socioeconomic variables of women who were offered and opted for OMFS for MMC versus postnatal MMC surgery, with the purpose of identifying variables driving the disparity between these two patient populations.
METHODS
This was a retrospective case-control study of patients who underwent evaluation for OMFS for MMC at a single academic hospital from 2015 to 2020. Race/ethnicity, primary insurance type, zip code, and BMI were collected and compared by treatment received and eligibility status for OMFS. Prevalence odds ratios were used to test for associations between each independent variable and the two outcomes. Logistical regression models were utilized to determine significant predictors of undergoing OMFS and being eligible for OMFS.
RESULTS
Of 96 women, 36 underwent OMFS for MMC, 40 received postnatal repair, and 20 either terminated the pregnancy or received care at another institution. Overall, 66 (68.8%) women were White, 14 (14.6%) were Black, 13 (13.5%) were Hispanic/Latinx, 1 (1.0%) was Asian, and 2 (2.1%) identified as other or multiple races. Among women who underwent OMFS for MMC, 27 (75.0%) were White, 2 (5.6%) were Black, 4 (11.1%) were Hispanic/Latinx, 1 (2.8%) was Asian, and 2 (5.6%) identified as other or multiple races. Having private insurance or TRICARE was associated with higher odds of being eligible for OMFS compared with women who were uninsured or had Medicaid when accounting for race and income (OR 3.87, 95% CI 1.51-9.59).
CONCLUSIONS
The population evaluated and treated for MMC was homogeneous and insufficiently representative of the population affected by the disease. This finding raises concern, as it suggests underlying barriers to formal evaluation for OMFS for MMC. Insurance status and BMI have a significant association between the access to and election of OMFS, revealing socioeconomic disparities. This was the first study to explore sociodemographic characteristics of patient populations who may be at risk for limited access to highly specialized fetal surgical care.
Topics: Pregnancy; Infant; Humans; Female; Male; Meningomyelocele; Retrospective Studies; Case-Control Studies; Fetus; Hydrocephalus
PubMed: 35245902
DOI: 10.3171/2022.1.PEDS21425 -
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