Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound

Wit, M.C. de; Boekhorst, Ferry; Mancini, Grazia M.S.; Smit, Liesbeth S.; Groenenberg, Irene A.L.; Dudink, Jeroen; Vries, Femke A.T. de; Go, Attie T.J.I.; Galjaard, R. J. H.

doi:10.1002/pd.5158

Cited by 25 publications

(34 citation statements)

References 35 publications

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“…A recent study showed that, in fetuses with normal microarray results, exome sequencing will detect additional defects in up to 13%, and this may become the new standard of care in the near future. 23 Additionally, the routine use of MRI in fetuses with agenesis of the corpus callosum is appropriate, given the high incidence of cortical anomalies in this group. The relatively low rate of MRI and genetic testing in our cohort (≈50%) is mainly explained by the fact that it was not performed in cases in which the results would not have changed the decision of the parents regarding further pregnancy management (termination versus continuation of the pregnancy).…”

Section: Discussionmentioning

confidence: 99%

Natural History of Ventriculomegaly in Fetal Agenesis of the Corpus Callosum

Masmejan

Blasér

Keunen

et al. 2019

J of Ultrasound Medicine

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Objectives To assess the natural evolution of the size of the fetal lateral ventricles throughout pregnancy in fetuses with callosal anomalies. Methods Cases of fetal callosal anomalies were retrospectively classified as isolated or complex based on the presence of other structural or genetic anomalies. Longitudinal ultrasound studies were reviewed, and postnatal outcomes were retrieved for isolated cases. Results In 135 fetuses, those who first presented after 24 weeks’ gestation were more likely to have ventriculomegaly (n = 58 of 68 [85%]) than those who presented before 24 weeks (n = 39 of 67 [58%]; P < .001). In 79 cases that had longitudinal follow‐up, the mean increase in ventricular width was 0.6 mm/wk, without a significant difference between isolated and complex cases (mean ± SD, 0.6 ± 1.5 versus 0.6 ± 1.1 mm; P = .45). Conclusions Callosal anomalies are associated with progressive ventriculomegaly on prenatal ultrasound imaging, without a difference between isolated and complex anomalies. This feature should be considered part of the disease spectrum. The consequence of progressive ventriculomegaly on the long‐term neurodevelopmental outcome is still unknown, and further studies should be aimed at obtaining long‐term follow‐up of these cases.

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Section: Discussionmentioning

confidence: 99%

Natural History of Ventriculomegaly in Fetal Agenesis of the Corpus Callosum

Masmejan

Blasér

Keunen

et al. 2019

J of Ultrasound Medicine

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“…More specific to agenesis of the corpus callosum, a retrospective study of 16 cases of prenatally identified agenesis of the corpus callosum showed four individuals underwent whole-exome sequencing and two had positive results, yielding a diagnostic rate of 12.5%-50%. 17 Importantly, after postnatal evaluation many of the individuals in this cohort were shown to have other anomalies in addition to agenesis of the corpus callosum. Larger prospective studies are needed to evaluate the utility of whole-exome sequencing in cases of true isolated agenesis of the corpus callosum.…”

Section: Discussionmentioning

confidence: 89%

Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum

Lenberg

Pretorius

Rupe

et al. 2019

Clinical Case Reports

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Key Clinical Message Whole‐exome sequencing in a female fetus detected a USP9X variant. This X‐linked gene was recently associated with intellectual disability and distinct pattern of malformation in females. Isolated agenesis of the corpus callosum has not been reported in association with USP9X . Identifying this variant impacted management of the subsequent pregnancy.

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“…The validity of our study is nevertheless limited by the quality of the original studies, all of which had a retrospective design, a small sample size and were heterogeneous in gestational age at ultrasound and MRI assessment. The interval between ultrasound and MRI was not specified [25][26][27][28][29][30][31][32]35 or varied markedly across studies, ranging from 14 days 8,33,35,36 to more than 4 weeks. 24 Therefore the role of MRI might have been overestimated due to the evolutive nature of some abnormalities (such as heterotopias) rather than the imaging method used for detecting them.…”

Section: Discussionmentioning

confidence: 99%

“…A total of 540 were identified; 109 were assessed with respect to their eligibility for inclusion and 14 studies were included in the systematic review (Tables 1 and S1, Figure 1). 8,[24][25][26][27][28][29][30][31][32][33][34][35][36] The results of the quality assessment of the included studies are presented in Table 2. Most of the included studies showed a good overall score.…”

Section: General Characteristicsmentioning

confidence: 99%

“…Twelve studies8,[24][25][26][27][28][29][30][31][32][33]35,36 (178 fetuses) explored the role of fetal MRI in detecting associated anomalies in fetuses with a prenatal diagnosis of isolated complete ACC on ultrasound. Overall, MRI detected 10.9% (95% CI 4.1-20.6) of fetal anomalies not detected on ultrasound, whereas the rate of additional anomalies detected only at birth and missed also at prenatal MRI was 4.3% (95% CI 1.4-8.8)…”

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confidence: 99%

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Role of prenatal magnetic resonance imaging in fetuses with isolated agenesis of corpus callosum in the era of fetal neurosonography: A systematic review and meta‐analysis

Sileo

Mascio

Rizzo

et al. 2020

Acta Obstet Gynecol Scand

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Introduction Corpus callosum agenesis (ACC) is frequently diagnosed during fetal life; its prognosis depends also on additional anomalies. The additional value of fetal magnetic resonance imaging (MRI) in fetuses with “isolated” complete (cACC) and partial (pACC) agenesis of the corpus callosum on ultrasound is still debated. Material and methods We performed a systematic literature review and meta‐analysis including fetuses with a prenatal diagnosis of cACC and pACC without associated structural anomalies on ultrasound, undergoing fetal MRI. The primary outcome was the rate of additional anomalies detected at fetal MRI. Further analyses assessed the effect of type of ultrasound assessment (neurosonography vs standard axial assessment), gestational age at fetal MRI and rate of postnatally detected brain anomalies. Random‐effect meta‐analyses of proportions were used to analyze the data. Results Fourteen studies (798 fetuses) were included. In cases with isolated cACC, 10.9% (95% CI 4.1‐20.6) and 4.3% (95% CI 1.4‐8.8) additional anomalies were detected by fetal MRI and postnatally, respectively. Stratifying according to the type of ultrasound assessment, the rate of associated anomalies detected only on fetal MRI was 5.7% (95% CI 0.5‐16.0) with dedicated neurosonography and 18.5% (95% CI 7.8‐32.4) with a standard axial assessment. In fetuses with isolated pACC, 13.4% (95% CI 4.0‐27.0) and 16.2% (95% CI 5.9‐30.3) additional anomalies were detected by fetal MRI or postnatally, respectively. Stratifying according to the type of ultrasound assessment, the rate of associated anomalies detected only on fetal MRI was 11.4% (95% CI 2.7‐25.0) when dedicated neurosonography was performed. Cortical and posterior fossa anomalies represented the most common anomalies missed at ultrasound with both cACC and pACC. Due to the very small number of included cases, stratification according to early (<24 weeks of gestation) and late (>24 weeks) fetal MRI could not be done for either cACC or pACC. Conclusions The rate of associated anomalies detected exclusively at fetal MRI in isolated ACC undergoing neurosonography is lower than previously reported. Cortical and posterior fossa anomalies are among the most common anomalies detected exclusively at MRI, thus confirming the crucial role of fetal MRI in determining the prognosis of these fetuses. However, some anomalies still go undetected prenatally and this should be stressed during parental counseling.

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Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound

Abstract: In accordance with current guidelines, we conclude that microarray should be offered in case of isolated cACC on ultrasound. ES is likely to be informative for prenatal counseling and should be offered if microarray is normal.

Cited by 25 publications

References 35 publications

Natural History of Ventriculomegaly in Fetal Agenesis of the Corpus Callosum

Natural History of Ventriculomegaly in Fetal Agenesis of the Corpus Callosum

Whole‐exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum

Role of prenatal magnetic resonance imaging in fetuses with isolated agenesis of corpus callosum in the era of fetal neurosonography: A systematic review and meta‐analysis

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