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First-trimester fetus with trisomy 18 and spina bifida. a Sagittal view shows obliteration of the fourth ventricle and cisterna magna at the level of the posterior brain (arrow). Note increased nuchal translucency thickness. b Transvaginal ultrasound shows a transverse view at the level of the lumbar area. The arrow depicts the spinal defect
Source publication
Accurate and timely prenatal diagnosis of spina bifida (SB) is a major goal of modern antenatal care. Prenatal screening for open SB should be first performed at the time of routine first-trimester ultrasound by examining the posterior fossa for obliteration or non-visualization of the fourth ventricle ("intracranial translucency") and cisterna mag...
Citations
... Open foetal spina bifida is the most common diagnosis for which prenatal biochemical testing is used. A biochemical test signs [10,11]. In addition, ultrasonography is the primary prenatal exam, and it may detect both open and partially closed foetal spina bifida. ...
Spina bifida in the foetus is a neurological condition that develops when the spinal cord fails to close properly during pregnancy. A birth defect that causes permanent paralysis in affected babies. Spina bifida is a birth defect that can be treated well if identified and treated early. It is generally agreed that ultrasonic imaging is the gold standard for foetal monitoring. In this research, ultrasound pictures of the foetal spine were segmented and classified into normal and pathological categories using two distinct deep learning algorithms. Three hundred pregnant women were recruited between November 2015 and November 2020 and subjected to three-dimensional ultrasound exams at a hospital. Using an adaptive bilateral filter (ABF), any visible noise in the pictures is eliminated. Segmentation of foetal spina bifida images is performed using the dilated encoder-decoder (DED) technique, and the images are then classified using a Feature Map-based differential convolutional network (FMDDCN). Analysis of segmentation showed that the suggested model was 96% accurate in terms of pixels and 87% accurate in terms of mean intersection over union (MIoU). At the end of the classification evaluation, the suggested model had an accuracy of 96.5, whereas the state-of-the-art methods only managed 95.0.
... El diagnóstico de la espina bífida congénita y el MMC se realiza generalmente con la ecografía prenatal, en la que cada vez se suman más marcadores de sospecha temprana, de alto valor predictivo (9). El impacto posnatal de la espina bífida congénita puede incluir problemas de movilidad, control de esfínteres y función sexual (10). ...
Congenital spina bifida is a malformation of the central nervous system that occurs during embryological development. Its etiology is multifactorial and it is estimated that it affects 1:1500 pregnancies, in which motor and sensory deficits, secondary to spinal cord injury, hydrocephalus and Arnold-Chiari II malformation are the most significant findings. Prenatal surgical treatment has been described through the open approach, microneurosurgery, and fetoscopic resolution, with well-known advantages and disadvantages, but which invariably improve postnatal prognosis and the severity of neurological sequelae, as well as the need for ventriculoperitoneal shunt. We present the first case of open microneurosurgery for intrauterine repair of myelomeningocele performed in Venezuela, a novel technique characterized by a minimum uterine incision of 20-30 mm, reduced fetal manipulation and maintenance of a normal volume of amniotic fluid throughout the process, in a patient at 24 weeks of gestation.
... Consequently, it induces local tissue hypoxia, which eventually results in impaired mitochondrial oxidative metabolism. This metabolic disruption can, in turn, cause cellular dysfunction and ultimately lead to the death of affected cells [17,18]. The present study observed that majority of TCS patients were hospitalized due to variety of primary reasons with array of symptoms such as visible skin abnormalities, back-leg pain, musculoskeletal anomalies, and disruptions in anal sphincter function. ...
... Vertebral arch affected with skin overlapping the defect is a visible abnormality under ultrasound. In CSB, meninges protrude through the meningocele, causing no cerebrospinal fluid leaks [7]. Also, the cranial anatomy is normal. ...
... The fetal spine can be examined by US using multiple slices, including the sagittal, transverse, and coronal sections of the spine, to identify its structure and relationship with surrounding tissues, before providing the primary and the most precise mode of prenatal diagnosis [7]. Because of the complicated classification, CSB is classified into spina bifida occulta or other types of CSB with a protrusion, including lipomyeloschisis, meningocele, and thickened filum terminale [12]. ...
Introduction:
Closed spina bifida (CSB) is a rare condition with a challenging prenatal diagnosis. Herein, we assess the conventional two-dimensional (2D) ultrasound (US) combined with three-dimensional (3D) ultrasound (US) and MRI in the prenatal diagnosis of CSB.
Methods:
In this retrospective study, we included 20 cases of fetal CSB confirmed by postnatal MRI, post-mortem pathological examination, or postpartum surgery. Prenatal 2D US complemented with the 3D US was performed in all fetuses to evaluate the characteristics of the conus, vertebral arch, and scoliosis. Moreover, magnetic resonance imaging (MRI) was performed to establish the split vertebrae, with or without a bulging mass. Thereafter, we compared the performance of the US and MRI.
Results:
Diagnosis accuracy of US were comparable with MRI (70% vs 75%, κ=0.62); US detected more cases with interpediculate distance ≥ 95% (55% vs 35%, κ=0.22) than MRI. On the other hand, MRI had a superior capacity for identifying vertebral arch fissures (20% vs 35%,κ=0.39). MRI and ultrasound had good agreement in conus medullaris (65% vs 70%,κ=0.42) and scoliosis (45% vs 35%, κ=0.59).Both US and MRI detected 1 (5.0%) case with 'lemon sign' and 'banana sign'. The missed diagnosis rates of US and MRI were 15%(3/20) and 5%(1/20), respectively. The misdiagnosis rates of US and MRI were 15.0% (3/20) and 20.0% (4/20), respectively.
Conclusion:
Both MRI and 2D US combined with the 3D US had excellent performance in prenatal diagnosis of CSB.
... Some earlier reports suggested additional or complementary use of MRI, particularly for evaluating the level of the conus and bony defect [59,60]. However, recent studies have shown that MRI offers little benefit over sonography, except for cases where fetal surgery is being considered [61,62]. Therefore, for centers in which routine counseling for fetal surgery is not done, fetal MRI is generally not recommended as a routine procedure [58]. ...
Purpose
Myelomeningocele (MMC) is one of the representative anomalies in the field of pediatric neurosurgery. During the 50 years of ISPN history, MMC had a tremendous changes in its incidence, clinical management and outcome with advanced understanding of its pathogenesis. We reviewed the changes in MMC during the period.
Methods
We reviewed the literature review and collected our experiences.
Results
During the 50 years, major changes happened in many aspects of MMC including incidence, pathoembryogenesis, folate deficiency, prevention, prenatal diagnosis, mode of delivery, treatment policy with ethical considerations, clinical treatment including fetal surgery, latex allergy, retethering, management outcome, multidisciplinary team approach, and socioeconomic and family issues.
Conclusions
There was a great advance in the management and research of MMC during the 50 years. It is a monumental achievement of pediatric neurosurgeons and colleagues of the related fields.
... It has also been linked to uterine deformity in women. 10 The goal of this study was to assess the effectiveness of grayscale ultrasonography and 3D power Doppler in detecting placenta accreta vs maternal serum alpha-fetoprotein levels in women who had previous caesarean sections. ...
... In recent years, more and more scholars have begun to investigate fetal CNS malformations by qualitative and quantitative assessment of fetal posterior fossa anatomy in the first trimester [15][16][17]. Initially, posterior fossa structures were first observed to screen for OSB [18,19]. In the prospective multicenter Berlin IT-study, Chih-Kang CF et al. [20] included 11 cases of OSB and five markers of CM, IT, BS, BSOB, and BS/BSOB. ...
Abstract Background To establish the normal reference ranges for parameters related to the fetal posterior fossa in the first trimester (11 ~ 13+6 weeks of gestation) and to analyze the relationship between them and crown-rump length (CRL) among the Chinese population. Methods Singleton pregnancies of 11 ~ 13+6 weeks (CRL:45 ~ 84 mm) with both parents from China were randomly selected from January 2021 to November 2021. The related parameters of the posterior fossa including cisterna magna (CM), intracranial translucency (IT), brain stem (BS), brain stem to the occipital bone (BSOB), and brain stem/brain stem to occipital bone (BS/BSOB) were evaluated and measured in nuchal translucency (NT) mid-sagittal section clearly by an experienced sonographer (operator 1). To assess the reproducibility of the measurements, we randomly selected 50 pregnant women. According to the blind method, operators 1 and 2 respectively screened and measured relevant parameters. In addition, operator 1 examined and measured relevant parameters again 2 h after the first. Results This study included 1663 fetuses. All fetuses can clearly show the three spaces of the fetal posterior fossa. The ICCs (95% CI) of intra-operator reproducibility of CM, IT, BS, BSOB, BS/BSOB were 0.981 (0.952 ~ 0.991, P
... Spina bifida aperta is frequently associated with Chiari type IImalformation, which is an abnormality of the posterior fossa characterized by the herniation of the cerebellum and brainstem through the foramen magnum [13]. Also, due to mechanical obstruction, it is often associated with ventriculomegaly [14,15]. Prenatal ultrasonography (US) represents the gold standard in fetal neural defects evaluation and diagnosis, whereas fetal magnetic resonance imaging (MRI) is used to refine the diagnosis [16]. ...
Background
NTD is one of the most important problems of the nervous system and the second fetal anomaly that is associated with high mortality and morbidity. Therefore, its prenatal diagnosis is very important. AFP has a high false positive, which reduces its diagnostic value, so the discovery of ultrasound findings in OSB is very important and can replace AFP testing.
Results
4 patients with positive OSB were detected and their diagnosis was confirmed during pathological follow-up (100% diagnostic accuracy) and the rest of the patients with high AFP (51 patients) were negative for OSB. Therefore, the diagnostic accuracy of AFP during statistical analysis was about 7%, which is a very low value.
Conclusion
According to the results of this study, IT, BS, BSOB, BS/BSOB ultrasound criteria in the first screening and decreased BPD and ventriculomegaly in the second screening ultrasound in OSB diagnosis have a higher diagnostic value than the AFP laboratory level. It should pay more attention to MS-AFP results in OSB screening.
... Although first-trimester detection can be achieved, STAS remains the gold standard for prenatal identification of this defect. 29 Spina bifida knows different degrees of severity, mostly depending on the level of the defect and the prognosis is also heterogeneous, as confirmed by our results. 26 Although we only considered a small proportion of severe cardiac defects, which are amenable to first-trimester diagnosis, it was encouraging to see that almost all were diagnosed prenatally (96%). ...
Background:
Prenatal diagnosis of several major congenital anomalies can be achieved in the first trimester of pregnancy.
Objective:
This study investigates the timing of diagnosis and pregnancy outcome of foetuses and neonates with selected structural anomalies in the Northern Netherlands over a 10-year period when the prenatal screening programme changed significantly, but no first-trimester anatomical screening was implemented.
Methods:
We performed a population-based retrospective cohort study with data from the EUROCAT Northern Netherlands database on pregnancies with delivery or termination of pregnancy for fetal anomaly (TOPFA) date between 2010 and 2019. The analysis was restricted to anomalies potentially detectable in the first trimester of pregnancy in at least 50% of cases, based on previously published data. These included: anencephaly, encephalocele, spina bifida, holoprosencephaly, tricuspid/pulmonary valve atresia, hypoplastic left heart, abdominal wall and limb reduction defects, lethal skeletal dysplasia, megacystis, multiple congenital anomalies. The primary outcome was the timing of diagnosis of each structural anomaly. Information on additional investigations, genetic testing and pregnancy outcome (live birth, TOPFA and foetal/neonatal death) was also collected.
Results:
A total of 478 foetuses were included; 95.0% (n = 454) of anomalies were detected prenatally and 5.0% (n = 24) postpartum. Among the prenatally detected cases, 31% (n = 141) were diagnosed before 14 weeks of gestation, 65.6% (n = 298) between 14-22 weeks and 3.3% (n = 15) after 22 weeks. Prenatal genetic testing was performed in 80.4% (n = 365) of cases with prenatally diagnosed anomalies, and the results were abnormal in 26% (n = 95). Twenty-one% (n = 102) of pregnancies resulted in live births and 62.8% (n = 300) in TOPFA. Spontaneous death occurred in 15.9% (n = 76) of cases: in-utero (6.1%, n = 29), at delivery (7.7%, n = 37) or in neonatal life (2.1%, n = 10).
Conclusion:
Major structural anomalies amenable to early diagnosis in the first trimester of pregnancy are mostly diagnosed during the second trimester in the absence of a regulated first-trimester anatomical screening programme in the Netherlands and are associated with TOPFA and spontaneous death, especially in cases with underlying genetic anomalies.
... Initially, posterior fossa structures were rst observed to screen for OSB [15,16]. Subsequently, with this inspiration and everyone's further discussion and understanding of the structure of the posterior fossa, it was later also gradually applied to predict cystic deformities of the posterior fossa (including DWM, BPC, Joubert's syndrome, etc.) [14,17,18]. ...
Background
To establish the normal reference ranges for parameters related to the fetal posterior fossa in the first trimester (11 ~ 13+ 6 weeks of gestation) and to analyze the relationship between them and crown-rump length (CRL) among the Chinese population.
Methods
Singleton pregnancies of 11 ~ 13+ 6 weeks (CRL:45–84 mm) with both parents from China were randomly selected from January 2021 to November 2021. The related parameters of the posterior fossa including cisterna magna (CM), intracranial translucency (IT), brain stem (BS), brain stem to the occipital bone (BSOB), and brain stem/brain stem to occipital bone (BS/BSOB) were measured in nuchal translucency (NT) median sagittal section clearly showing the fetal posterior fossa structure. 50 pregnant women of them were randomly selected to have the relevant values measured once again while another measurement was taken by a senior physician.
Results
This study included 1663 fetuses. The ICC (95% CI) of intra-operator reproducibility of CM, IT, BS, BSOB, BS/BSOB were 0.981 (0.952 ~ 0.991, P < 0.001), 0.929 (0.866 ~ 0.961, P < 0.001), 0.970 (0.946 ~ 0.983, P < 0.001), 0.991 (0.974 ~ 0.996, P < 0.001), 0.939 (0.892 ~ 0.965, P < 0.001), respectively; The ICC (95% CI) of inter-operator reproducibility 0.926 (0.860 ~ 0.960, P < 0.001), 0.810 (-0.083 ~ 0.940, P < 0.001), 0.820 (0.645 ~ 0.904, P < 0.001), 0.804 (0.656 ~ 0.888, P < 0.001), 0.772 (0.599 ~ 0.871, P < 0.001), respectively. There was a linear correlation between CRL and the parameters related to the posterior fossa (CM, IT, BS, BSOB, BS/BSOB). CM (mm) =-1.698 + 0.532 × CRL (cm) (r = 0.829, P < 0.001); IT (mm) = 0.701 + 0.179 × CRL (cm) (r = 0.548, P < 0.001); BS (mm) = 0.403 + 0.349 × CRL (cm) (r = 0.716, P < 0.001); BSOB (mm) = -0.277 + 0.719 × CRL (cm) (r = 0.829, P < 0.001); BS/BSOB = 0.747 − 0.021 × CRL (cm) (r = 0.196, P < 0.001).
Conclusions
It was feasible to observe fetal posterior fossa structures in the first trimester. We constructed normal reference ranges of CM, IT, BS, BSOB, and BS/BSOB. Furthermore, CM, IT, BS, and BSOB were all positively correlated with CRL, but BS/BSOB was negatively correlated with CRL.
