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Assessment of fetal brain abnormalities
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Generally, in cases of mild fetal ventriculomegaly with a normal karyotype and an absence of malformations, the outcome appears to be favorable (32). Pilu and his colleagues (33) reviewed 234 cases of borderline ventriculomegaly including an abnormal outcome in 22.8% and concluded that borderline ventriculomegaly carries an increased risk of cerebral maldevelopment, delayed neurologic development, and, possibly, chromosomal aberrations. Isolated mild ventriculomegaly with AW of 10 to 12mm may be normal variation. Signorelli and colleagues (34) described that their data of normal neurodevelopment between 18 months and 10 years after birth in cases of isolated mild ventriculomegaly (AW of 10–12mm) should provide a basis for reassuring counseling. Ouahba and colleagues (35) recently reported the outcome of 167 cases of isolated mild ventriculomegaly and concluded that in addition to associated anomalies, three criteria are often associated with an unfavorable outcome: AW greater than 12mm, progression of the enlargement, and asymmetrical and bilateral ventriculomegaly.
Common Tips on Communication
Published in Justin C Konje, Complete Revision Guide for MRCOG Part 3, 2020
Your baby has an abnormality called ventriculomegaly, which simply means there is more than usual fluid in the baby’s brain. Normally the brain and the spinal cord are surrounded (bathed) by a fluid called cerebrospinal fluid (CSF). This fluid, which is clear, is also found throughout the ventricles (or brain cavities and tunnels). The fluid cushions the brain and spinal cord from jolts and rapid movements, thereby protecting the brain and the spinal cord. This fluid is produced in certain structures in the brain and flows through the brain and the cord freely. Ventriculomegaly occurs when the fluid-filled structures (lateral ventricles) in the brain are too large. This is diagnosed when the sizes of the ventricles measured on the ultrasound scan are more than 10 mm. Sometimes the ultrasound will only show one of the ventricles, even though there are two (one on the right and one on the left side). Ventriculomegaly seems to occur more often in male fetuses than in female fetuses. The mild to moderate types (where the size of the ventricle is 10-15mm) occur in approximately 1% of pregnancies.
Intracranial Cysts
Published in Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan, Problem-Based Obstetric Ultrasound, 2019
Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan
Cystic structures in the posterior fossa include: Enlarged cisterna magna when it is >10 mm in the transverse cerebellar view. Detailed ultrasound is needed to demonstrate this is isolated and that the cerebellum and vermis are normal. It can be associated with ventriculomegaly, but if it remains isolated and does not progress, prognosis is generally good.Blake's pouch cysts represent a communication between the 4th ventricle into the cisterna magna and appear as a unilocular cyst without any Doppler flow. Careful assessment is mandatory to ensure the remainder of the brain—in particular cerebellum and vermis—are normal. This is usually isolated, and most will resolve spontaneously.In Dandy-Walker malformation there is dilation of the fourth ventricle in the posterior fossa and that extends into the cisterna magna. The cerebellar vermis will be hypoplastic or absent. The condition is often associated with chromosomal abnormalities (mainly trisomy 18 and 13) or genetic syndromes. Coexisting abnormalities are very common, as is severe ventriculomegaly. The outlook is guarded.
Prenatal Diagnosis of 5p Deletion Syndrome with Brain Abnormalities by Ultrasonography and Fetal Magnetic Resonance Imaging: A Case Report
Published in Fetal and Pediatric Pathology, 2020
Didem Kaymak, Verda Alpay, Hakan Erenel, İbrahim Adaletli, Nil Comunoglu, Riza Madazli
Prenatal diagnosis of 5p deletion syndrome remains difficult and does not show any specific ultrasonographic feature. Hydrops fetalis, isolated ascites, cardiac anomalies, absent/severely hypoplastic nasal bone and increased nuchal translucency have been reported in cases with 5p deletion [3,11,12]. Central nervous system (CNS) anomalies are the most frequently detected ultrasonographic abnormalities associated with 5p deletion syndrome prenatally [13]. Arachnoid cyst, encephalocele, agenesis of the corpus callosum, Dandy-Walker malformation, ventriculomegaly, cerebellar hypoplasia, and vermian hypoplasia are reported abnormal findings of the CNS in cases with prenatally diagnosed 5p deletion syndrome [3,11,13–16]. In the present case, we have also observed mild ventriculomegaly, cerebellar and vermian hypoplasia. The peculiar aspect of our case is the identification of the hypoplasia of pons and increased subarachnoid space by prenatal ultrasonography. Hypoplasia of the brainstem mainly involving the pons, cerebellum, median cerebellar peduncles, and cerebellar white matter has been revealed by MRI in the postnatal series of 5p deletion syndrome [17,18]. Fetal MRI of the present case revealed mild ventriculomegaly, increased subarachnoid space, pontocerebellar and vermis hypoplasia with a high suspicion of fetal cortical hypoplasia.
Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months
Published in Fetal and Pediatric Pathology, 2018
Jeon Soo-kyeong, Narae Lee, Mi Hye Bae, Young Mi Han, Kyung Hee Park, Shin Yun Byun
TD has severe central nervous system abnormalities, the most characteristic of which are megalencephaly and cerebral cortical disorganization (18). Moreover, since the initial report of temporal lobe abnormalities in 1971 (19), there have been many reports on temporal lobe dysplasia. Other defects including hydrocephalus, temporal lobe hyperplasia, brainstem hypoplasia, and hippocampal dysplasia result from the activation of FGFR3 tyrosine kinase (2). The patient in the present case showed gradual progression of ventriculomegaly that was initially identified in the brain ultrasonography performed on day of life 3. The cause of death of this patient was most likely respiratory failure. However, considering the findings of exacerbated ventriculomegaly, brainstem compression may have contributed to the death. For a more accurate assessment of the brain, a brain MRI was necessary, but it was not performed because of the refusal of the parents.
The outcome of the vein of Galen aneurysmal malformation cases diagnosed prenatally
Published in Journal of Obstetrics and Gynaecology, 2022
Gurcan Turkyilmaz, Resul Arisoy, Sebnem Turkyilmaz, Emre Erdogdu, Altug Semiz
A total of six foetuses with VGAM, who underwent foetal neurosonography were retrieved during the study period. The mean maternal age was 30.7 ± 5.4 years. The mean gestational age at diagnosis was 31.1 ± 5.1 weeks. The mean size of VGAM was 29.2 ± 5.2 × 26.4 ± 3.3 mm. Straight sinus dilatation was present in all cases. Ventriculomegaly was detected in five of six (83.3%) cases. The mean ventricular width was 12.2 ± 3.1 mm. Foetal neurosonography revealed intracranial haemorrhage in five cases. Grade 3 intracranial haemorrhage was detected in three foetuses, and Grade 4 intracranial haemorrhage was seen in two cases. Cardiomegaly or tricuspid valve regurgitation was present in four of six (66.6%) cases. Hydrops fetalis was detected in two cases (case 3 and case 5).