Antenatal imaging of anomalies of the corpus callosum: a decade of experience

Bell, S A; O’Mahony, Edward; Fink, A. Michelle; Woodrow, Nicole; Reidy, Karen; Palma-Dias, Ricardo

doi:10.1007/s00404-015-3673-6

Cited by 9 publications

(20 citation statements)

References 20 publications

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“…This high prevalence could be due to the fact that we included all types of ACC whereas some studies as for example Bedeschi et al () excluded hypoplasia of corpus callosum. Moreover, the ascertainment of the cases of ACC was population‐based in our study whereas it was hospital‐based in the studies for example of Shevell () and Bedeschi et al (), or the cases were recorded in a tertiary referral center (Alby et al, ; Bell et al, ; Ghi et al, ; Hetts et al, ; Kitova et al, ; Rüland et al, ; Schell‐Apacik et al, ; Tang et al, ). In the current study, 73.7% of the cases had associated anomalies.…”

Section: Discussionmentioning

confidence: 94%

“…ACC is frequently associated with other congenital defects. However the reported prevalence of associated anomalies at birth varies considerably among diverse studies, between 39.6% (Szabó et al, ) and 86.5% (Glass et al, ), as vary the type of associated anomalies reported (Alby et al, ; Ballardini et al, ; Bedeschi et al, ; Bell, Mahony, Fink, Woodrow, & Reidy, ; Ghi et al, ; Glass et al, ; Hetts, Sherr, Chao, Gobuty, & Barkovich, ; Kitova, Kitov, Milkov, & Gaigi, ; Rüland, Berg, Gembruch, Geipel, & Medicine, ; Schell‐Apacik et al, ; Shevell, ; Szabó et al, ; Tang et al, ). It has also not been established whether ACC are related to specific types of other congenital defects and there are differences in reports concerning which organ system is most often affected by associated anomalies.…”

Section: Introductionmentioning

confidence: 99%

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Associated anomalies in cases with agenesis of the corpus callosum

Stoll

Dott

Roth

2019

American J of Med Genetics Pt A

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Agenesis of corpus callosum (ACC) is an uncommon congenital anomaly, its etiology is unclear and its pathogenesis is controversial. Cases with ACC often have other non-ACC associated congenital anomalies. The purpose of this study was to assess the prevalence and the types of these associated anomalies in a defined population.The associated anomalies in cases with ACC were collected in all live births, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 99 cases with ACC, representing a prevalence of 2.56 per 10,000, 73 (73.7%) had associated anomalies. There were 16 (16.2%) cases with chromosomal abnormalities, and 13 (13.2%) nonchromosomal recognized dysmorphic conditions including syndromes two each: Aicardi, Dandy-Walker, and fetal alcoholism. Forty-four (44.4%) of the cases had nonsyndromic multiple congenital anomalies (MCA). Anomalies in the musculoskeletal, the urogenital, the central nervous, the cardiovascular, and the digestive systems were the most common other anomalies in the cases with MCA.The anomalies associated with ACC could be classified into a recognizable malformation syndrome in 29 out of the 73 cases (39.7%) with associated anomalies. This study included special strengths: it is population-based, each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, three of four cases, emphasizes the need for a screening for other anomalies in cases with ACC. K E Y W O R D Sagenesis of corpus callosum, brain malformations, central nervous system anomalies, congenital anomalies, multiple congenital anomalies

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Section: Discussionmentioning

confidence: 94%

Section: Introductionmentioning

confidence: 99%

Associated anomalies in cases with agenesis of the corpus callosum

Stoll

Dott

Roth

2019

American J of Med Genetics Pt A

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“…Furthermore, regional and remote parents often have to travel to MFM clinics, where providers are less likely to have links with the parent's local organisations, complicating referral pathways for ongoing support. While ongoing MFM follow up and ultrasounds after a diagnosis ACC may be within the management protocol, 10 this case study highlights that this may not occur for regional patients.…”

Section: Discussionmentioning

confidence: 88%

“…A report of a decade of cases included 26% identified incidentally during a third-trimester scan. 10 Given these difficulties, it is unlikely that a sonographer would be able to confirm a diagnosis of ACC at the time of a routine morphology scan but may identify an atypical appearance. The suspicion of ACC during a morphology scan warrants tertiary referral for further investigation.…”

Section: Introductionmentioning

confidence: 99%

“…Progressive dilation likely accounts for the frequency of ACC diagnoses made after the mid‐gestation scan. A report of a decade of cases included 26% identified incidentally during a third‐trimester scan 10 . Given these difficulties, it is unlikely that a sonographer would be able to confirm a diagnosis of ACC at the time of a routine morphology scan but may identify an atypical appearance.…”

Section: Introductionmentioning

confidence: 99%

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The challenges for patients and sonographers when complex obstetric anomalies are identified

Shakes

Deslandes

2021

Sonography

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The prenatal identification of complex obstetric anomalies can present issues for expectant parents, sonographers and departments of obstetric ultrasound. The limitations of imaging technologies, ongoing fetal development and various interpretations of anomalies and prognosis create ambiguity. Complexity is further heightened by a lack of policies and training related to the communication of unexpected findings and support for sonographers who work with expectant parents during or after times of significant distress and trauma. This case report details challenges presented upon a third-trimester diagnosis of a complex obstetric anomaly agenesis of the corpus callosum and offers recommendations to reduce the negative psychosocial consequences of complex obstetric anomaly diagnosis.

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Fetal neuroimaging: an update on technical advances and clinical findings

Robinson

Ederies

2018

Pediatr Radiol

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This paper is based on a literature review from 2011 to 2016. The paper is divided into two main sections. The first section relates to technical advances in fetal imaging techniques, including fetal motion compensation, imaging at 3.0 T, 3-D T2-weighted MRI, susceptibility-weighted imaging, computed tomography, morphometric analysis, diffusion tensor imaging, spectroscopy and fetal behavioral assessment. The second section relates to clinical updates, including cerebral lamination, migrational anomalies, midline anomalies, neural tube defects, posterior fossa anomalies, sulcation/gyration and hypoxic-ischemic insults.

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Antenatal imaging of anomalies of the corpus callosum: a decade of experience

Cited by 9 publications

References 20 publications

Associated anomalies in cases with agenesis of the corpus callosum

Associated anomalies in cases with agenesis of the corpus callosum

The challenges for patients and sonographers when complex obstetric anomalies are identified

Fetal neuroimaging: an update on technical advances and clinical findings

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