Corpus callosal agenesis, fetal MRI and molecular genetics

2022 ◽  
Vol 59 (1) ◽  
pp. 132-132
Author(s):  
L. Carbillon ◽  
B. Amarenco
2018 ◽  
Vol 39 (05) ◽  
pp. 513-525 ◽  
Author(s):  
Mirra Manevich-Mazor ◽  
Alina Weissmann-Brenner ◽  
Omer Bar Yosef ◽  
Chen Hoffmann ◽  
Roei Mazor ◽  
...  

Abstract Objective To evaluate the added value of fetal MRI to ultrasound in detecting and specifying callosal anomalies, and its impact on clinical decision making. Methods Fetuses with a sonographic diagnosis of an anomalous corpus callosum (CC) who underwent a subsequent fetal brain MRI between 2010 and 2015 were retrospectively evaluated and classified according to the severity of the findings. The findings detected on ultrasound were compared to those detected on MRI. An analysis was performed to assess whether fetal MRI altered the group classification, and thus the management of these pregnancies. Results 78 women were recruited following sonographic diagnoses of either complete or partial callosal agenesis, short, thin or thick CC. Normal MRI studies were obtained inµ19 cases (24 %). Among these, all children available for follow-up received an adequate adaptive score in their Vineland II adaptive behavior scale assessment. Analysis of the concordance between US and MRI demonstrated a substantial level of agreement for complete callosal agenesis (kappa: 0.742), moderate agreement for thin CC (kappa: 0.418) and fair agreement for all other callosal anomalies. Comparison between US and MRI-based mild/severe findings classifications revealed that MRI contributed to a change in the management for 28 fetuses (35.9 %), mostly (25 fetuses, 32.1 %) in favor of pregnancy preservation. Conclusion Fetal MRI effectively detects callosal anomalies and enables satisfactory validation of the presence or absence of callosal anomalies identified by ultrasound and adds valuable data that improves clinical decision making.


Author(s):  
V. Knezović ◽  
G. Kasprian ◽  
A. Štajduhar ◽  
E. Schwartz ◽  
M. Weber ◽  
...  

Author(s):  
W. Bernard

In comparison to many other fields of ultrastructural research in Cell Biology, the successful exploration of genes and gene activity with the electron microscope in higher organisms is a late conquest. Nucleic acid molecules of Prokaryotes could be successfully visualized already since the early sixties, thanks to the Kleinschmidt spreading technique - and much basic information was obtained concerning the shape, length, molecular weight of viral, mitochondrial and chloroplast nucleic acid. Later, additonal methods revealed denaturation profiles, distinction between single and double strandedness and the use of heteroduplexes-led to gene mapping of relatively simple systems carried out in close connection with other methods of molecular genetics.


1992 ◽  
Vol 25 (5) ◽  
pp. 995-1009
Author(s):  
Michael J. Lanser
Keyword(s):  

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