scholarly journals OC06.03: Fetal MRI findings in a cohort of 26 cases of prenatally diagnosed CHARGE syndrome

2018 ◽  
Vol 52 ◽  
pp. 13-13
Author(s):  
A. Millischer ◽  
P. Sonigo ◽  
T. Attie-Bitach ◽  
E. Spaggiari ◽  
B. Bessières ◽  
...  
2019 ◽  
Vol 39 (9) ◽  
pp. 781-791 ◽  
Author(s):  
Anne‐Elodie Millischer ◽  
Pascale Sonigo ◽  
Tania Attie ◽  
Emmanuel Spaggiari ◽  
Neil O'Gorman ◽  
...  

2017 ◽  
Vol 38 (12) ◽  
pp. 2357-2363 ◽  
Author(s):  
M.J. Hoch ◽  
S.H. Patel ◽  
D. Jethanamest ◽  
W. Win ◽  
G.M. Fatterpekar ◽  
...  

2021 ◽  
Vol 10 (2) ◽  
Author(s):  
Mostafa Mahmod ◽  
Sara M Ragaee ◽  
Soha T Hamed ◽  
Ahmed Abbas ◽  
Mohamed A.F. Mourad

Objective: Intrauterine fetal ventriculomegaly (IVM) is one of the most commonly detected fetal anomalies. Prenatal diagnosis in IVM is considered a challenge with a significant impact on management. The current study aims to evaluate the added value of performing fetal MRI to sonographically diagnosed IVM. Methods: A prospective cohort study was conducted at a tertiary University Hospital in the period between January 2017 and March 2019. We included pregnant women with a single fetus sonographically diagnosed IVM (symmetrical or asymmetrical). First, a basic obstetric sonographic examination was done, followed by a detailed (2D/3D) fetal CNS anomaly scan for the detection of other associated anomalies. A fetal MRI brain scan was performed for all cases. Results: Sixty women were included in the study. Of the 60 fetuses with IVM, additional findings were seen on MRI in 14 cases (23%), and most of these findings were identified in fetuses with severe IVM (about 50%). No additional abnormalities were identified in fetuses of less than 24 weeks gestation. Callosal and septum pellucidum lesions (29%), along with posterior fossa abnormalities (28%) and cortical malformations (21%) accounted for the most common additional significant fetal MRI findings. Fetal MRI sensitivity, specificity, and positive and negative predictive values in correlation with those of prenatal ultrasound turned out to be notably higher, approaching nearly 100 %. Conclusions: Fetal MRI for sonographically diagnosed moderate or severe IVM is recommended to guide clinical management.


2018 ◽  
Vol 48 (7) ◽  
pp. 1032-1034
Author(s):  
Beth M. Kline-Fath ◽  
Arnold C. Merrow ◽  
Maria A. Calvo-Garcia ◽  
Usha D. Nagaraj ◽  
Howard M. Saal

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Ali Sharif ◽  
Yihua Zhou

We present the fetal MRI characteristics of exencephaly, a rare malformation of the cranium. The fetus was initially misdiagnosed as anencephaly at 14 weeks of estimated gestational age (EGA) and later mislabeled as acrania at 20 weeks of EGA by ultrasound. A confirmatory magnetic resonance imaging (MRI) at 29 weeks of EGA demonstrated findings consistent with exencephaly, which was confirmed after birth. To our knowledge, no full fetal MRI characteristics have been described. We hope to use this case to review the key MRI findings in differentiating exencephaly from other cranial vault defects and to help early diagnosis of exencephaly as the appropriate use of correct nomenclature allows better research while giving parents the most accurate and appropriate counseling.


2013 ◽  
Vol 7 (11) ◽  
Author(s):  
Matteo Saldari ◽  
Lucia Manganaro ◽  
Silvia Bernardo ◽  
Camilla Aliberti ◽  
Evelina Silvestri

2017 ◽  
Vol 75 (10) ◽  
pp. 703-710 ◽  
Author(s):  
José Daniel Vieira de Castro ◽  
Licia Pacheco Pereira ◽  
Daniel Aguiar Dias ◽  
Lindenberg Barbosa Aguiar ◽  
Joanira Costa Nogueira Maia ◽  
...  

ABSTRACT The new epidemic of Zika virus infection raises grave concerns, especially with the increasingly-recognized link between emerging cases of microcephaly and this infectious disease. Besides small cranial dimensions, there are striking morphologic anomalies in the fetal brain. Key anomalies include cortical developmental malformations and a peculiar distribution of pathologic calcifications. These potentially indicate a new pattern of congenital central nervous system infection. Methods: Eight women underwent fetal MRI. Four infants also underwent postnatal CT. Five of the women underwent amniocentesis. Results: All neonates were born with microcephaly. On fetal MRI, ventriculomegaly, marked reduction of white matter thickness, severe sylvian fissure simplification, abnormal sulcation, and diffuse volumetric loss of cerebellar hemispheres were consistently seen. On postnatal CT, diffuse subcortical and basal ganglia calcifications were observed. The Zika virus was detected in two amniocenteses by polymerase chain reaction assays. Conclusion: We hope to assist the medical community in recognizing the spectrum of encephalic changes related to congenital Zika virus infection.


2014 ◽  
Vol 37 (2) ◽  
pp. 93-101 ◽  
Author(s):  
Nora Frick ◽  
Claudius Fazelnia ◽  
Kathrin Kanzian ◽  
Wolfgang Hitzl ◽  
Thorsten Fischer ◽  
...  

Objectives: To assess the inter- and intraobserver reliability of different fetal MRI measurements in cases of fetal brain malformations and to examine the concordance between ultrasonography (US) and MRI findings. Methods: Fetal brain MRIs and US findings of 56 pregnant women were retrieved from the institutional database. Standardized fetal brain MRI measurements were performed by 4 observers, and the inter- and intraobserver reliability was determined. Additionally, US and MRI findings were retrospectively compared. Results: The interobserver intraclass correlation coefficient (ICC) was above 0.9 for the cerebellum and posterior horn of the lateral ventricle. The measurements regarding the third ventricle (0.50), the fourth ventricle (0.58), and the corpus callosum (0.63) showed poor reliability. Overall, the intraobserver reliability was greater than the interobserver reliability. US and MRI findings were discordant in 29% of the cases with MRI rendering an extended diagnosis in 18%, a change of diagnosis in 3.6%, and excluding pathological findings suspected on US in 7.1%. Conclusions: Fetal MRI is a valuable complement to US in the investigation of fetal brain malformations. The reliability of most parameters was high, except for the measurements of the third and fourth ventricles and the corpus callosum.


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