Postnatally Diagnosed Agenesis of Corpus Callosum in Fetuses

Kitova, Тanya; Kitov, Borislav; Milkov, Denis; Gaigi, Soumeya Siala

doi:10.3109/15513815.2014.915366

Cited by 8 publications

(18 citation statements)

References 11 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%

“…In the previously reported series the most common chromosomal abnormalities were also trisomy 18 and trisomy 13; 34 out of 227 cases (14.9%) of ACC with chromosomal anomalies reported were trisomy 18, with a percentage ranging from 9.1 (Alby et al, ) to 13.8 (Glass et al, ). Trisomy 13 was also common, 28 cases out of 227 reported cases (12.3%) were trisomy 13 with a percentage ranging from 15.6 (Glass et al, ) to 62.5 (Kitova et al, ). Trisomy 21 was less frequent, present in 10 (4.4%) out of 227 cases with ACC and chromosomal abnormalities reported in the literature (Table ) with a percentage ranging from 5.5 (Glass et al, ) to 25.0 (Kitova et al, ).…”

Section: Discussionmentioning

confidence: 99%

“…In this series, chromosomal abnormalities were observed in 16 cases, 16.2% (Table ). The reported percentages of chromosomal abnormalities in cases with ACC varied (Table ), ranging from 7.3 (Schell‐Apacik et al, ) to 40.0 (Kitova et al, ). In this series the most common chromosomal abnormality was trisomy 18 (37.5%) followed by trisomy 13 (12.1%).…”

Section: Discussionmentioning

confidence: 99%

“…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. For example, Bedeschi et al () reported that 18.7% of the patients with ACC had other central nervous system anomalies whereas in the series of Kitova et al () 52.4% of the patients with ACC had also other central nervous system anomalies. Moreover, comparisons between older and more recent studies are difficult because a number of what have formerly been regarded as associated anomalies is now recognized to be specific syndromes, associations or sequences.…”

Section: Introductionmentioning

confidence: 96%

“…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: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 96%

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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Prenatal genetic testing in 19 fetuses with corpus callosum abnormality

She

Tang

Cui

et al. 2021

Clinical Laboratory Analysis

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Background Corpus callosum abnormality (CCA) can lead to epilepsy, moderate severe neurologic or mental retardation. The prognosis of CCA is closely related to genetic etiology. However, copy number variations (CNVs) associated with fetal CCA are still limited and need to be further identified. Only a few scattered cases have been reported to diagnose CCA by whole exome sequencing (WES). Methods Karyotyping analysis, copy number variation sequencing (CNV‐seq), chromosomal microarray analysis (CMA) and WES were parallelly performed for prenatal diagnosis of 19 CCA cases. Results The total detection rate of karyotyping analysis, CMA (or CNV‐seq) and WES were 15.79% (3/19), 21.05% (4/19) and 40.00% (2/5), respectively. Two cases (case 11 and case 15) were diagnosed as aneuploidy (47, XY, + 13 and 47, XX, + 21) by karyotyping analysis and CNV‐seq. Karyotyping analysis revealed an unknown origin fragment (46,XY,add(13)(p11.2)) in case 3, which was further confirmed to originate from p13.3p11.2 of chromosome 17 by CNV‐seq. CMA revealed arr1q43q44 (238923617–246964774) × 1(8.04 Mb) in case 8 with a negative result of chromosome karyotype. WES revealed that 2 of 5 cases with negative results of karyotyping and CNV‐seq or CMA carried pathogenic genes ALDH7A1 and ARID1B. Conclusion Parallel genetic tests showed that CNV‐seq and CMA are able to identify additional, clinically significant cytogenetic information of CCA compared to karyotyping; WES significantly improves the detection rate of genetic etiology of CCA. For the patients with a negative results of CNV‐seq or CMA, further WES test is recommended.

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Role of fetal MRI in the evaluation of isolated and non‐isolated corpus callosum dysgenesis: results of a cross‐sectional study

et al. 2017

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CCD is often complicated by other intra-cranial and extra-cranial findings (cortical dysplasias as the most prevalent) that significantly affect the postnatal prognosis. The present study showed CCD with associated anomalies as more frequent than isolated (73.1%). In isolated forms, severe ventriculomegaly was a reliable herald of future appearance of associated features. © 2016 John Wiley & Sons, Ltd.

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Postnatally Diagnosed Agenesis of Corpus Callosum in Fetuses

Abstract: The prenatal diagnosis of ACC must be the result of a multidisciplinary approach. The phenotype of the XLAG syndrome creates an interest to study asymptomatic patients with ACC, especially when the anomaly is detected prenatally.

Cited by 8 publications

References 11 publications

Associated anomalies in cases with agenesis of the corpus callosum

Associated anomalies in cases with agenesis of the corpus callosum

Prenatal genetic testing in 19 fetuses with corpus callosum abnormality

Role of fetal MRI in the evaluation of isolated and non‐isolated corpus callosum dysgenesis: results of a cross‐sectional study

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