Prenatal diagnosis and prenatal imaging features of fetal monosomy 1p36

2007 ◽  
Vol 27 (9) ◽  
pp. 874-878 ◽  
Author(s):  
D. Lissauer ◽  
S. A. Larkins ◽  
S. Sharif ◽  
L. MacPherson ◽  
C. Rhodes ◽  
...  

2019 ◽  
Vol 48 (1) ◽  
pp. 61-64 ◽  
Author(s):  
Clémentine Sciard ◽  
Sophie Collardeau-Frachon ◽  
Anthony Atallah ◽  
Danièle Combourieu ◽  
Jérôme Massardier ◽  
...  




2019 ◽  
Vol 47 (4) ◽  
pp. 252-260 ◽  
Author(s):  
Mariatu A. Verla ◽  
Candace C. Style ◽  
Amy R. Mehollin-Ray ◽  
Sara C. Fallon ◽  
Adam M. Vogel ◽  
...  


2020 ◽  
Vol 40 (4) ◽  
pp. 424-431
Author(s):  
Francesca Bascietto ◽  
Asma Khalil ◽  
Giuseppe Rizzo ◽  
Alexander Makatsariya ◽  
Danilo Buca ◽  
...  


2021 ◽  
Vol 48 (3) ◽  
pp. 217-226
Author(s):  
Caroline Bartholmot ◽  
Sara Cabet ◽  
Mona Massoud ◽  
Jérôme Massardier ◽  
Axel Fichez ◽  
...  

<b><i>Objectives:</i></b> Our goal was to provide a better understanding of isolated short corpus callosum (SCC) regarding prenatal diagnosis and postnatal outcome. <b><i>Methods:</i></b> We retrospectively reviewed prenatal and postnatal imaging, clinical, and biological data from 42 cases with isolated SCC. <b><i>Results:</i></b> Prenatal imaging showed SCC in all cases (<i>n</i> = 42). SCC was limited to rostrum and/or genu and/or splenium in 21 cases, involved body in 16 cases, and was more extensive in 5 cases. Indirect imaging features included typical buffalo horn ventricles (<i>n</i> = 14), septal dysmorphism (<i>n</i> = 14), parallel lateral ventricles (<i>n</i> = 12), and ventriculomegaly (<i>n</i> = 4), as well as atypical features in 5 cases. SCC was associated with interhemispheric cysts and pericallosal lipomas in 3 and 6 cases, respectively. Aneuploidy was found in 2 cases. Normal psychomotor development, mild developmental disorders, and global developmental delay were found in 70, 15, and 15% of our cases, respectively. <b><i>Conclusions:</i></b> SCC should be investigated to look for pericallosal lipoma and typical versus atypical indirect features of corpus callosum agenesis (CCA). Prenatal counselling should be guided by imaging as well as clinical and genetic context. Outcome of patients with SCC was similar to the one presenting with complete CCA.



2021 ◽  
pp. 1-4
Author(s):  
Gustavo Malinger ◽  
Chen Hoffmann ◽  
Reuven Achiron ◽  
Michal Berkenstadt

We present the prenatal imaging and whole exomics sequencing with the newly described Snijders Blok-Campeau macrocephaly syndrome.



2020 ◽  
Vol 66 (11) ◽  
pp. 1526-1529
Author(s):  
Rita de Cássia S. Alves ◽  
Adriana Ubirajara Silva Petry ◽  
Josenel Maria Barcelos Marçal ◽  
Bruno Hochhegger ◽  
Andréa Souto Damin ◽  
...  

SUMMARY BACKGROUND: Asymmetric or heteropagus conjoined twins is a rare occurrence, with an incidence of one case in 1-2 million. Conjoined twins are classified according to their symmetry, place of fusion, and grade of duplication. METHODS: We report here an extremely rare presentation of parasitic twins not described before. We describe macro and micro anatomic alterations and discuss the aspects of this peculiar presentation and the importance of prenatal diagnosis. RESULTS: The case of a twenty-three-year-old patient, with monochorionic, monoamniotic asymmetrically-conjoined twin pregnancy, discovered at 29 weeks of gestational age. We believe that this report calls attention to this presentation and the importance of prenatal care and management. The twins were delivered vaginally without life. The twins’ combined weight was 1.300 gr. They were bonded in the left cervical region. CONCLUSION: This report may help to find strategies for clinical decisions in future cases. Antepartum diagnosis is important to the management, preoperative planning, and outcomes. Prenatal imaging exams like echocardiography, CT, MRI, and ultrasonography are feasible and can provide relevant information about malformation severity and prognosis.





Author(s):  
Tally Lerman-Sagie ◽  
Zvi Leibovitz

AbstractAbnormal fetal corticogenesis results in malformations of cortical development (MCD). Abnormal cell proliferation leads to microcephaly or megalencephaly, incomplete neuronal migration results in heterotopia and lissencephaly, neuronal overmigration manifests as cobblestone malformations, and anomalous postmigrational cortical organization is responsible for polymicrogyria and focal cortical dysplasias. MCD comprises various congenital brain disorders, caused by different genetic, infectious, or vascular etiologies and is associated with significant neurological morbidity. Although MCD are rarely diagnosed prenatally, both dedicated multiplanar neurosonography and magnetic resonance imaging enable good demonstration of fetal cortical development. The imaging signs of fetal MCD are: delayed or absent cerebral sulcation; premature abnormal sulci; thin and irregular hemispheric parenchyma; wide abnormal overdeveloped gyri; wide opening of isolated sulci; nodular bulging into the lateral ventricles; cortical clefts; intraparenchymal echogenic nodules; and cortical thickening. The postnatal and prenatal imaging features of four main malformations of cortical development—lissencephaly, cobblestone malformations, periventricular nodular heterotopia, and polymicrogyria—are described.



2022 ◽  
Author(s):  
Andrew Wang Shen ◽  
Alka Kothari ◽  
Anndrea Flint ◽  
Sailesh Kumar


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