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Lumbosacral myelomeningocele. Fetus at 22 weeks’ gestation. a Sagittal T2-weighted HASTE image shows a small cystic mass protruding at the thoracolumbar level (black arrow). Associated hydrocephalus (asterisk) and a Chiari malformation (white arrow) are also seen. b Axial T2-weighted HASTE image at the lumbosacral level shows the neural placode protruding outside the surface of the skin due to expansion of the adjacent subarachnoid space (black arrow). c Coronal image at the spinal level shows increased interpedicular distance at the level of the neural defect. d Ultrasound image of a different patient shows a cystic mass protruding at lumbar level (white arrows). e Pathological specimen. f Sagittal diagrams of the anomaly
Source publication
Objective:
To assess the role of magnetic resonance imaging (MRI) in the prenatal diagnosis of neural tube defects (NTDs).
Background:
NTDs comprise a heterogeneous group of congenital anomalies that derive from the failure of the neural tube to close. Advances in ultrasonography and MRI have considerably improved the diagnosis and treatment of...
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Citations
... The rate of Chiari type II malformation in the current study (44.7%) was lower than what has been reported elsewhere (>75%). [4,8] The literature reports that MRI is superior to cranial ultrasound for evaluation of the posterior fossa. [8,17] Owing to limited availability and long waiting times for MRI, patients admitted to the UAH neonatal unit with MMC receive a cranial sonar to expedite intracranial visualisation. ...
... [4,8] The literature reports that MRI is superior to cranial ultrasound for evaluation of the posterior fossa. [8,17] Owing to limited availability and long waiting times for MRI, patients admitted to the UAH neonatal unit with MMC receive a cranial sonar to expedite intracranial visualisation. MRI is performed on an outpatient basis. ...
... In the absence of access to antenatal sonars, evidence indicates that the sensitivity of serum AFP retains viability for antenatal MMC detection. [4,5,8] The current study demonstrates no usage of serum AFP or amniocentesis during antenatal assessments. This represents a modifiable factor that could improve antenatal MMC detection, which in turn would allow delivery of affected neonates in a tertiary institution to further decrease the delay to repair. ...
Background. Myelomeningocele (MMC) is a common neural tube defect with significant sequelae. There are limited recent data on the mortality and morbidity of MMC in South Africa (SA). Objective. To describe the outcomes and characteristics of patients with MMC admitted to the neonatal unit at Universitas Academic Hospital (UAH) in Bloemfontein, SA. Methods. A retrospective, descriptive study which included 53 patients with MMC admitted to the neonatal unit between 1 January 2017 and 31 December 2019 was conducted. Electronic patient records were reviewed. Data included outcomes, length of stay, complications and maternal and infant characteristics. Results. The inpatient mortality rate was 11.3% (n=6/53). The median length of stay was 18 days. Notable MMC complications included hydrocephalus (88.7%; n=47/53), Chiari malformation type II (44.7%; n=21/47), lower-limb paralysis (84.9%; n=45/53), lower-limb deformities (60.4%; n=32/53), meningitis (52.8%; n=28/53), neuropathic bladder (37.7%; n=20/53) and loss of anal tone (41.5%; n=22/53). MMC repair was performed in 62.2% (n=33/53) and 27.3% (n=9/33) developed complications. Wound sepsis and breakdown were the most common complications (18.2%, n=6/33), with a median 8 days to complications. Antenatal sonar was not performed in 62% (n=31/50) of cases. MMC was detected antenatally in 20% of cases. Conclusion. The inpatient mortality rate in thisstudy was lower than the mortality rates reported in other low- and middle-income countries although significant morbidity was identified. A lack of quality antenatal care and access to antenatal sonars were barriers to early detection of MMC. Other healthcare system infrastructural failures may be contributory, which highlights the need for ongoing inter- sectoral collaboration for prevention, early detection and management of MMC to improve patient outcomes.
... Another possible differential diagnosis is the sinus pericranii, a low-flow venous malformation characterized by the presence of an extracranial soft-tissue mass, usually located in the midline, caused by an abnormal communication between intracranial dural sinuses and extracranial veins via transcalvarial emissary veins [17]. The torcular pseudomass may also resemble a simple occipital meningocele (herniation of meninges and cerebrospinal fluid through a cranial defect) given its homogeneous T2 hyperintensity [18]. However, the torcular pseudomass, although located in the posterior midline, is a strictly intracranial structure and is not associated with calvarial defects. ...
... However, the torcular pseudomass, although located in the posterior midline, is a strictly intracranial structure and is not associated with calvarial defects. More complex meningoencephaloceles involve additional herniation of cerebral parenchyma through the bony defect and are commonly associated with other intracranial anomalies [18]. Last, benign inclusion cysts, such as dermoid or epidermoid cysts, present with distinct signal on T1-and T2-weighted imaging as well as restricted diffusion in the latter [19]. ...
Background
The torcular pseudomass is an incidental extra-axial midline mass located between the venous sinuses and the occipital squama in the pediatric population. Although this structure is presumed to be a developmental feature, it has not been characterized on fetal MRI.
Objective
To determine the frequency, imaging features and longitudinal in utero evolution of torcular pseudomass using fetal MRI.
Materials and methods
We present a single-center retrospective study of fetal MRI performed at a tertiary hospital. Two independent reviewers first ordinally scored torcular pseudomass as absent, focal, crescentic or bulky based on morphology. We reviewed available follow-up fetal and postnatal MRI and further classified torcular pseudomass as stable, involuted or progressive. We also collected clinical and demographic data from electronic charts and compared them among categories, corrected for multiple comparisons.
Results
This study included a total of 219 fetuses with median gestational age of 28 weeks (interquartile range [IQR]: 23–32 weeks). Torcular pseudomass was absent in 8% (n=17) and present as a focal mass in 15% (n=33), crescentic in 45% (n=98) and bulky in 32% (n=71) of the cases. Median gestational age was statistically different among torcular pseudomass categories and inversely associated with size. Follow-up fetal MRI was available in 9.6% (n=21) of cases (median interval 4 weeks; IQR: 2–9 weeks) and torcular pseudomass in these cases was classified as stable in 67% (n=14), involuted in 29% (n=6) and progressive in 5% (n=1). Postnatal MRI was available in 5% (n=12) of fetuses (median interval 11.5 months, IQR: 3–17 months), and among these cases torcular pseudomass was classified as stable in 33% (n=4) and involuted in 67% (n=8).
Conclusion
Torcular pseudomass is highly prevalent in the fetal population and shows a natural tendency to involute, even in utero, although it sometimes persists during early infanthood.
... Failure of neural tube closure during development results in a variety of neural tube defects, causing spinal anomalies in cases of spinal dysraphism like spina bifida; or cranial anomalies like with anencephaly, characterized by absence of a major portion of the cranium. Though, anencephaly is less indicated for MRI [45]. Distinguishing characteristics of common types of spina bifida are shown in Figure 2. Worldwide incidence varies geographically, but estimated on average about 0.1-1% of live births, with anticonvulsants correlating with increased risk, and folic acid associated with reduced risk of neural tube defects [45]. ...
... Though, anencephaly is less indicated for MRI [45]. Distinguishing characteristics of common types of spina bifida are shown in Figure 2. Worldwide incidence varies geographically, but estimated on average about 0.1-1% of live births, with anticonvulsants correlating with increased risk, and folic acid associated with reduced risk of neural tube defects [45]. Spinal dysraphism occurs from improper closure of the spinal cord and surrounding membranes during fetal development, and can be classified by open or closed. ...
Fetal and perinatal diagnostic imaging with MRI has evolved and expanded during recent times, allowing more widespread use and availability. Common indications are for neurodevelopmental conditions that are inconclusive with ultrasonography. The modality is pivotal in treatment planning for in utero interventions, such as repair of neural tube defects, and for particular obstetrical complications. The technique is also useful for identifying neurological sequelae from conditions like congenital heart defects and maternal viral infections. Many other applications are not indicated for routine use, particularly due to the high cost, but show much promise in research applications. Recently, complications associated with COVID-19 have been an area of interest, with prenatal MRI cohorts and case studies reporting obstetrical complications and neurodevelopmental effects. This review is aimed at highlighting common indications for the use of MRI in maternal-fetal medicine, including the MRI sequences and physics often implemented. Also, an in-depth analysis of the SARS-CoV-2 virus is discussed; in addition to pregnancy-related complications and the role of prenatal MRI in diagnosis and treatment.
... Despite nearly 100% of neonates born with an open myelomeningocele having evidence of hydrocephalus at the time of birth, but only 70% will develop hydrocephalus during fetal life [14,15]. The use of three-dimensional ultrasound may be more accurate for the localisation of lesion level compared with two-dimensional ultrasound, but a discrepancy exists with the clinical significance of the improved accuracy, which is generally in the region of one spinal level compared with postnatal findings [16,17]. ...
Open spina bifida (myelomeningocele) is a specific kind of neural tube defect (NTD) resulting from a trouble of closure of the caudal region of the neural tube early in embryogenesis. The diagnosis and management of open spina bifida has changed significantly over the past century. Significant advances in the prevention, diagnosis and treatment of open spina bifida have been made over the last years. The most significant strategy for the prevention of open spina bifida has been with folic acid supplementation. Although progress in the field of myelomeningocele diagnosis and treatment has revolutionised the medical treatment of open spina bifida, the postnatal treatment of myelomeningocele evolved significantly and is now complicated by issues surrounding prenatal diagnosis, including availability, economic feasibility, and selection for invasive fetal surgery and management of pregnancy.
... Ultrasound is commonly used in the prenatal diagnosis of congenital CNS anomalies, to help clinicians to counsel patients and their families [24,29,32], as was evident from our study. Advances in foetal MRI have progressed over the past decades from an experimental procedure to an important technique routine practice in confirming congenital defects in many centers globally [18,19,[33][34][35][36][37][38]. The present study presents results for comparison of two of the diagnostic methods: one before and the other after the birth of the baby. ...
PurposeCongenital anomalies, also known as birth defects have been the primary focus of a number of studies globally. Our primary objective is to evaluate the significance of MRI in the prenatal diagnosis of congenital central nervous system (CNS) anomalies and explore the role of autopsy techniques in the postnatal phase as a verification tool. Additionally, we are focused on proving the MRI-specific diagnostic capabilities in comparison to the current gold standard based on autopsy.Methods
The study is based on a thorough analysis of incidences of congenital CNS anomalies in four women and their foetuses. Primary in-vivo MRI diagnostics and subsequent verification via autopsy (postmortem) have been performed.ResultsWe described the foetal CNS anomalies based on MRI diagnostics and additionally verified the results by autopsy to confirm the findings and improve the services offered to patients and their families.Conclusion
The findings of the study confirmed the role of the MRI as a reliable tool for unequivocal diagnosis of congenital CNS anomalies and malformations.
... An initial step for the quantification of fetal brain morphology and volumetry is image segmentation. It is clinically relevant to analyse information such as shape or volume of the developing cortex, cerebellum, brainstem, white matter and cerebrospinal fluid spaces, as many congenital disorders cause subtle changes to these tissue compartments 6,15,16 . Existing growth data is mainly based on normally developing brains [17][18][19] , and we lack growth data for many pathologies and congenital disorders. ...
It is critical to quantitatively analyse the developing human fetal brain in order to fully understand neurodevelopment in both normal fetuses and those with congenital disorders. To facilitate this analysis, automatic multi-tissue fetal brain segmentation algorithms are needed, which in turn requires open datasets of segmented fetal brains. Here we introduce a publicly available dataset of 50 manually segmented pathological and non-pathological fetal magnetic resonance brain volume reconstructions across a range of gestational ages (20 to 33 weeks) into 7 different tissue categories (external cerebrospinal fluid, grey matter, white matter, ventricles, cerebellum, deep grey matter, brainstem/spinal cord). In addition, we quantitatively evaluate the accuracy of several automatic multi-tissue segmentation algorithms of the developing human fetal brain. Four research groups participated, submitting a total of 10 algorithms, demonstrating the benefits the dataset for the development of automatic algorithms.
... Fetal MRI has advanced rapidly in the last 25 years, developing from an experimental technique to become a fundamental tool in normal clinical practice in many centers around the world. MRI's ability to detect complex anomalies that involve different organs has been widely reported (52). D u r i n g t h e p r e n a t a l e v a l u a t i o n , d e t a i l e d ultrasonographic assessment of the entire spine with the identification of the position and morphology of the conus medullaris and absence of cranial signs of spinal dysraphism are the most valuable sonographic clues for diagnosis of closed SB (53). ...
Spina bifida (SB) is a neurogenetic disorder with a complex etiology that involves genetic and environmental factors. SB can occur in two major forms of open SB or SB aperta and closed SB or SB occulta. Myelomeningocele (MMC), the most common neural tube defects (NTDs), occurs in approximately 1 in 1,000 births. Considering non-genetic factors, diminished folate status is the best-known factor influencing NTD risk. The methylenetetrahydrofolate reductase (MTHFR) gene has been implicated as a risk factor for NTDs. The primary disorder in the pathogenesis of MMC is failed neural tube closure in the embryonic spinal region. The clinical manifestation of SB depends on clinical type and severity. SB can be detected in the second trimester using ultrasound which will reveal specific cranial signs. The management of MMC traditionally involves surgery within 48 h of birth. Prenatal repair of MMC is recommended for fetuses who meet maternal and fetal Management of Myelomeningocele Study (MOMS) specified criteria. Urological manifestations of SB include urinary incontinence, urolithiasis, sexual dysfunction, renal dysfunction, and urinary tract infection. Renal failure is among the most severe complications of SB. The most important role of the urologist is the management of neurogenic bladder. Medical management with clean intermittent catheterization and anticholinergic treatment is generally considered the gold standard of therapy. However, when this therapy fails surgical reconstruction become the only remaining option. This review will summarize the pathogenesis, risk factors, genetic contribution, diagnostic test, and management of SB. Lastly, the urologic outcomes and therapies are reviewed.
... Fetal MRI also may be considered for assessment of unclear findings on ultrasonography. [3,13,[16][17][18][19] -Expect to provide critical information about the likelihood of survival and the spectrum of outcomes (i.e., neurosurgical, cognitive, developmental, urologic, orthopedic, and dermatologic conditions) for children with NTDs. ...
... Measurement of amniotic fluid acetylcholinesterase helps to differentiate between open and closed NTDs and is a component of many perioperative evaluations for fetal closure [17,18]. Fetal MRI also may be considered, particularly if unclear findings on ultrasonography exist [19]. ...
As the diagnosis of Spina Bifida (SB) is often made prenatally, SB-specific prenatal counseling is needed. It is essential to provide information about medical care and lifelong impact of this diagnosis, treatment options available to women carrying fetuses affected, and resources that will assist in the care of individuals with SB. This article outlines the SB Prenatal Counseling Guidelines from the 2018 Spina Bifida Association’s Fourth Edition of the Guidelines for the Care of People with Spina Bifida and acknowledges that further research in SB prenatal counseling is warranted.
... An initial step for the quantification of fetal brain morphology and volumetry is image segmentation. It is clinically relevant to analyse information such as shape or volume of the developing cortex, cerebellum, brainstem, white matter and cerebrospinal fluid spaces, as many congenital disorders cause subtle changes to these tissue compartments 6,15,16 . Existing growth data is mainly based on normally developing brains [17][18][19] , and we lack growth data for many pathologies and congenital disorders. ...
It is critical to quantitatively analyse the developing human fetal brain in order to fully understand neurodevelopment in both normal fetuses and those with congenital disorders. To facilitate this analysis, automatic multi-tissue fetal brain segmentation algorithms are needed, which in turn requires open databases of segmented fetal brains. Here we introduce a publicly available database of 50 manually segmented pathological and non-pathological fetal magnetic resonance brain volume reconstructions across a range of gestational ages (20 to 33 weeks) into 7 different tissue categories (external cerebrospinal fluid, grey matter, white matter, ventricles, cerebellum, deep grey matter, brainstem/spinal cord). In addition, we quantitatively evaluate the accuracy of several automatic multi-tissue segmentation algorithms of the developing human fetal brain. Four research groups participated, submitting a total of 10 algorithms, demonstrating the benefits the database for the development of automatic algorithms.
... Failure of closure at the fetal cranial end Anencephaly/exencephaly: These terms refer to the absence of major portions of the brain, skull, and scalp above the orbits. The essential difference between anencephaly and exencephaly is that the latter demonstrates a normal amount of brain tissue, although abnormally developed [23]. Therefore, it has been proposed that exencephaly represents an earlier stage that can develop into anencephaly as a result of brain tissue destruction by constant collision against the uterine wall [24]. ...
Maternal serum alpha-fetoprotein is a valuable laboratory test used in pregnant women as an indicator to detect certain clinical abnormalities. These can be grouped into four main categories: fetal factors, pregnancy complications, placental abnormalities, and maternal factors. Imaging is an invaluable tool to investigate the various etiologies leading to altered maternal serum alpha-fetoprotein. By reading this article, the radiologist, sonologist, or other health care practitioner should be able to define the probable pathology leading to the laboratory detected abnormal maternal serum levels, thus helping the clinician to appropriately manage the pregnancy and counsel the patient.
