Counseling in fetal medicine: agenesis of the corpus callosum

Santo, Susana; D’Antonio, Francesco; Homfray, Tessa; Rich, Philip; Pilu, Gianluigi; Bhide, A.; Thilaganathan, B.; Papageorghiou, Aris T.

doi:10.1002/uog.12315

Cited by 161 publications

(192 citation statements)

References 56 publications

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“…It has been reported that the US diagnosis of CCA is associated with a false-positive rate of 0-20%, thus underlying the contribution of magnetic resonance imaging (MRI) [4]. The anterior part of the CC is usually better delineated by US (using an anterior transfontanellar approach) while the posterior part is better depicted by MRI (fig.…”

Section: Corpus Callosum Dysgenesismentioning

confidence: 99%

Main Congenital Cerebral Anomalies: How Prenatal Imaging Aids Counseling

Garel¹,

Moutard

2014

Fetal Diagn Ther

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The purpose of this article is to discuss some common cerebral lesions that may be detected during prenatal screening: corpus callosum dysgenesis, absent septum pellucidum, localized parenchymal ischemic-hemorrhagic lesions, megacisterna magna, Blake's pouch cyst, posterior fossa arachnoid cyst and Dandy-Walker malformation. For each cerebral defect, the main imaging findings are reminded, certain differential diagnoses are discussed and prenatal diagnostic accuracy is analyzed with emphasis on uncertainties encountered during analysis of ultrasound or magnetic resonance images. Detecting cerebral lesions in fetuses requires rapid counseling by neuropediatricians. Keeping in mind that the prenatal diagnostic accuracy is not 100%, the neuropediatricians have to answer the parents' questions regarding the outcome of the unborn child as well as the risk of recurrence for future pregnancies. This article is based on the authors' large experience in both prenatal imaging and neurocounseling. The frequently asked questions are set up. Answers are provided, underscoring the importance of an appropriate description of the cerebral defect, and therefore the pivotal role of prenatal imaging. However, prenatal neurocounseling remains challenging and the parents must be aware of uncertainties regarding both diagnostic accuracy and prognostic evaluation.

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Section: Corpus Callosum Dysgenesismentioning

confidence: 99%

Main Congenital Cerebral Anomalies: How Prenatal Imaging Aids Counseling

Garel¹,

Moutard

2014

Fetal Diagn Ther

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“…In this classification, "isolated type" is without any other abnormalities, while "complex type" is concomitant with cerebral or extracerebral abnormalities such as holoprosencephaly, cyst formation, metabolic diseases. [14,15] Taking into consideration the mentioned classifications, this case is a partial agenesis according to Kidron classification, and presence of colpocephaly is appropriate with Type 1 of Brescian classification, but without magnetic resonance imaging it was not possible to evaluate Probst bundles. [7,13] Lastly, it may be considered as complex type of corpus callosum agenesis, due to accompanying poor academic performance.…”

Section: Discussionmentioning

confidence: 99%

Partial corpus callosum agenesis and colpocephaly: a case report

Aydın¹,

Adıgüzel²,

Aksoy³

et al. 2016

Anatomy

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Callosal abnormalities are mostly described as central nervous system malformations and can be symptomatic or asymptomatic. Herein, we report an autopsy case of a 50-year-old Syrian immigrant male with poor academic performance, presented with partial agenesis of the corpus callosum and colpocephaly. He was evidently asymptomatic until death.The cause of death was determined to be hypothermia. Autosy revealed a corpus callosum of 3 cm only in the anterior part. Posterior part of the corpus callosum, anterior, posterior and hippocampal commissures were absent. On coronal sections, inferior horn of the lateral ventricle was dilated. Histopathological examination showed petechial microhemorrhagic areas and congestion in the brain. This case report was presented to demonstrate a good example of corpus callosum agenesis in asymptomatic individuals except for poor academic performance. Furthermore, this is the first corpus callosum agenesis in medical literature encountered during medicolegal autopsy in an adult case.

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“…Only 50% of the agenesis of corpus callosum and posterior fossa abnormalities are detected at the morphologic scan. However, this hypothesis should be verified in large population studies [24][25][26].…”

Section: Limitations Of the First Trimester Scanmentioning

confidence: 95%