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Volume of the myelomeningocele: ultrasound measurements. (A) Sagittal view of a myelomeningocele at 20 weeks of gestation: length. (B) Transversal view of a myelomeningocele at 20 weeks of gestation: width and depth. (C) Volume of the myelomeningocele: prolate ellipsoid volume: length × width × depth × 0.52.
Source publication
To investigate the association of the myelomeningocele (MMC) volume with prenatal and postnatal motor function (MF) in cases who underwent a prenatal repair. Retrospective cohort study (11/2011 to 03/2019) of 63 patients who underwent a prenatal MMC repair (37 fetoscopic, 26 open-hysterotomy). At referral, measurements of the volume of MMC was perf...
Context in source publication
Context 1
... bony spinal defect on US scans. A high level of the lesion was defined as an upper bony spinal defect at or above the second vertebral body (L2) 9 . www.nature.com/scientificreports/ Measurements of the volume of the lesions were performed using US scans to calculate the volume of the prolate ellipsoid (volume = length × width × depth × 0.52) 10 (Fig. ...
Citations
... Data were collected from the fetal magnetic resonance imaging (MRI) scans and on various anthropomorphic measures. Lesion size, in the case of MMC, was calculated as described by Corroenne [13] using: ...
Introduction:
Open spina bifida (OSB) manifests as myelomeningocele (MMC) or myeloschisis (MS). Both lesions theoretically leak cerebrospinal fluid (CSF) and produce different degrees of Chiari II malformation (CHMII). However, it is not entirely clear whether these forms of OSB have different clinical manifestations. This study aimed to evaluate the clinical and/or radiological differences between myeloschisis and myelomeningocele in patients who underwent prenatal OSB repair.
Methods:
A total of 71 prenatal repairs were performed with the open technique at the Public Hospital of Rancagua, Chile, between 2012 and 2022. We performed follow-up MRI imaging of fetuses that qualified for prenatal OSB repair surgery. We examined the correlations between various anthropomorphic measurements and clinical and imaging variables, such as the type of lesion and dimensions such as ventricle atrium diameter, degree of severity of CHMII, need for CSF shunt at 12 months, and walking at 30 months.
Results:
This study included 71 fetuses with OSB for which 38 MRI examinations were analyzed; 61% (43/71) of lesions were MMC and 39% (28/71) were MS. Grade 3 (severe) CHMII were found in 80% (12/15) of MS and 43% (10/23) of MMC (p<0.05). Fetuses with an atrial diameter less than 13.48 mm had a lower probability of requiring a CSF shunt at 12 months (p<0.05). MMC was associated with a higher frequency of clubfoot at birth (p<0.05), whereas MS was significantly associated with more severe CHMII (p<0.05). Although the correlations were not significant, we observed clear trends that more children with MS required shunts at 12 months and could walk at 30 months compared to children with MMC.
Conclusions:
MS and MMC are distinct subtypes of OSB. Further studies of larger cohorts that include biomolecular and histological analysis are required to better understand differences between these lesions. This study may enable healthcare providers to better advise parents and prepare healthcare teams earlier for the management of patients undergoing prenatal repair of OSB.
... The occurrence of spina bifida is about 0.5 of 1000 births globally and it is calculated in United States to be more than 3 per 10000 births 13 . The incidence of MMC is approximately 0.8 to 1 per 1000 live births worldwide 14 and in United States the prevalence is estimated to be 1in 3000 live births 15 . A study conducted in Northern China revealed that the recurrence risk in neural tube defects in subsequent pregnancies was 1.7% which was greater than in the United States 16 . ...
Aim: To determine association of location of cyst with the family history and mutated gene among patients of myelomeningocele. Methodology: This cross sectional study consists of fifty diagnosed cases of myelomeningocele and ten healthy individuals taken as controls. The cases were collected from Jinnah Postgraduate Medical Center (JPMC) for a period of six months. The research was conducted in Dow Diagnostic and Research Laboratory (DDRL) (DUHS). Majority of the patients included in the study were neonates. Patients were examined for the presence and site of the cyst. Family history of the patients was also recorded. After taken informed consent from the patient’s attendants, blood was drawn by a trained phlebotomist. DNA was extracted from whole blood followed by PCR amplification of VANGL1 gene. Results: We found that among fifty individuals five patients showed mutation in VANGL1 gene. Mutation was absent entirely from the controls. The cyst was mostly (92%) present in the lumbar region. Only 2% patients showed positive family history. The association between site of the cyst and family history was statistically significant. Conclusion: It is concluded that all mutation of VANGL1 gene was present at lumbar region.There was a strong relation between location of cyst and family history. Keywords: Myelomeningocele, cyst, VANGL1 gene, PCR, mutation.
Objective
To investigate whether prenatal repair of spina bifida aperta through mini‐hysterotomy results in less prematurity, as compared to standard hysterotomy, when adjusting for known prematurity risks.
Methods
We performed a bi‐centric, propensity score matched, controlled study, that is, adjusting for factors earlier reported to result in premature delivery or membrane rupture, in consecutive women having prenatal repair either through stapled hysterotomy or sutured mini‐hysterotomy (≤3.5 cm). Matches were pairwise compared and cox‐regression analysis was performed to define the hazard ratio of delivery <37 weeks.
Results
Of 346 meeting the MOMS‐criteria, 78 comparable pairs were available for matched‐controlled analysis. Mini‐hysterotomy patients were younger and had a higher BMI. Mini‐hysterotomy was associated with a 1.67‐lower risk of delivery <37 weeks (hazard ratio: 0.60; 95% CI: 0.42–0.85; p = 0.004) and 1.72 for delivery <34 + 6 weeks (hazard ratio: 0.58; 95% CI: 0.34–0.97; p = 0.037). The rate of intact uterine scar at birth (mini‐hysterotomy: 98.7% vs. hysterotomy: 90.4%; p = 0.070), the rate of reversal of hindbrain herniation within 1 week after surgery (88.9% vs. 97.4%; p = 0.180) and the rate of cerebrospinal fluid leakage (0% vs. 2.7%; p = 0.50) were comparable.
Conclusion
Prenatal spina bidifa repair through mini‐hysterotomy was associated with a later gestational age at delivery and a comparable intact uterus rate without apparent compromise in neuroprotection.
Objective
To evaluate the prenatal diagnosis of closed dysraphism (CD) and its correlation with postnatal findings and neonatal adverse outcomes.
Methods
A retrospective cohort study including pregnancies diagsnosed with fetal CD by prenatal ultrasound (US) and magnetic resonance imaging (MRI) at a single tertiary center between September 2011 and July 2021.
Results
CD was diagnosed prenatally and confirmed postnatally in 12 fetuses. The mean gestational age of prenatal imaging was 24.2 weeks, in 17% the head circumference was ≤fifth percentile and in 25% the cerebellar diameter was ≤fifth percentile. US findings included banana sign in 17%, and lemon sign in 33%. On MRI, posterior fossa anomalies were seen in 33% of cases, with hindbrain herniation below the foramen magnum in two cases. Mean clivus‐supraocciput angle (CSA) was 74°. Additional anomalies outside the CNS were observed in 50%. Abnormal foot position was demonstrated prenatally in 17%. Neurogenic bladder was present in 90% of patients after birth.
Conclusion
Arnold Chiari II malformation and impaired motor function can be present on prenatal imaging of fetuses with CD and may be associated with a specific type of CD. Prenatal distinction of CD can be challenging. Associated extra CNS anomalies are frequent and the rate of neurogenic urinary tract dysfunction is high.
More than 30 years have elapsed since it was recognised that folic acid supplementation could substantially reduce the risk of open neural tube defects (ONTDs). During that time, many countries have adopted policies of food fortification with demonstrable reduction in the incidence of both cranial and spinal ONTDs. Improved prenatal detection and termination has also resulted in a reduction in the number of affected live births. Nonetheless, in the USA about 1500 children, and in the UK around 500 children are born each year with myelomeningocele (MMC) and so the management of MMC and its complications continues to constitute a significant clinical workload for many paediatric neurosurgical units around the world.Until recently, the options available following antenatal diagnosis of MMC were termination of pregnancy or postnatal repair. As a result of the MOMS trial, prenatal repair has become an additional option in selected cases (Adzick et al., N Engl J Med 364(11):993–1004, 2011). Fetal surgery for myelomeningocele is now offered in more than 30 centres worldwide. The aim of this chapter is to review the experimental basis of prenatal repair of MMC, to critically evaluate the neurosurgical implications of this intervention and to describe the technique of ‘open’ repair, comparing this with emerging minimally invasive alternatives.KeywordsFetal repairIn utero surgerySpina bifidaMyelomeningoceleFetoscopicPrenatal surgery
