Neurodevelopmental outcome following prenatal diagnosis of an isolated anomaly of the corpus callosum

Mangione, R.; Fries, N.; Godard, P.; Capron, Christiane; Mirlesse, V.; Lacombe, Didier; Duyme, M.

doi:10.1002/uog.8882

Cited by 61 publications

(65 citation statements)

References 33 publications

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“…According to many authors - particularly in the articles written during the past decade - CCA is considered isolated when prenatal workup including MRI and genetic tests does not reveal any additional anomaly [5,9,10,11]. In fact, a positive family history (mental retardation, epilepsy and/or psychiatric disorders), parental consanguinity or certain abnormal findings observed during the pregnancy (such as nuchal anomaly, intrauterine growth retardation, infection, drug or alcohol addiction or reduced fetal movements) have to be carefully searched for.…”

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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“…The prevalence in general population ranges from 1.8 to 7 per 10,000 births and may be seen in up to 2 %-3 % neuropediatric patients [6]. It may be sporadic or a genetic mutation may be present.…”

Section: Discussionmentioning

confidence: 98%

Antenatal Diagnosis of Corpus Callosal Agenesis

Kazi¹,

Iqbal²,

Kazi³

2015

Journal of Fetal Medicine

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The corpus callosum (CC) is the largest interhemispheric commissure connecting the neocortical areas of the two cerebral hemispheres. The spectrum of anomalies of the CC includes agenesis, which may be complete or partial, and hypoplasia. The callosal agenesis may be isolated or may be associated with other abnormalities. Nonvisualization of cavum septum pellucidum and colpocephaly are important signs in the axial view which aid in the diagnosis. Demonstrating the absence of CC in midsagittal plane is the gold standard. We report a case of isolated complete corpus callosal agenesis diagnosed antenatally in the third trimester with a brief review of ultrasound findings in corpus callosal agenesis.

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“…Prediction of the long-term pregnancy outcome and neurodevelopment in childhood depends on the type of defect and presence of the associated anomalies. In about 50% of the cases, ACC is an isolated finding and in the other half, the associated anomalies (both, cerebral and extra-cerebral) are found [23]. Due to the low frequency of prenatally diagnosed ACC in the general population and low rate of prenatal detection, the results, methodology and follow-up periods in studies on pregnancy outcome and neurodevelopment are heterogenic.…”

Section: Agenesis Of Corpus Callosum (Acc)mentioning

confidence: 99%

“…Due to the low frequency of prenatally diagnosed ACC in the general population and low rate of prenatal detection, the results, methodology and follow-up periods in studies on pregnancy outcome and neurodevelopment are heterogenic. Mangione et al, in their meta-analysis, revealed normal development in 71% of the newborns with isolated ACC [23]. On the other hand, the prognosis for fetuses with ACC and other anomalies remains poor.…”

Section: Agenesis Of Corpus Callosum (Acc)mentioning

confidence: 99%

Three-dimensional neurosonography — a novel field in fetal medicine

Lipa¹,

Pooh²,

Wielgoś³

2017

Ginekol Pol

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Neurosonography is a promising technique for prenatal diagnosis, combining features of ultrasound imaging with fetal neurology. The brain is a three-dimensional structure, therefore observing brain structure in the three basic planes (sagittal, coronal and axial) is mandatory. The anterior fontanelle and sagittal suture may serve as acoustic ultrasound windows in the transvaginal brain scan, allowing to obtain high-resolution neuroimages of the intracranial structures. Furthermore, three-dimensional (3D) ultrasound combined with the transvaginal brain approach provides detailed and sophisticated neuroimages. Three orthogonal planes of the brain, tomographic ultrasound imaging (TUI) and other off-line approaches (e.g. volume contrast imaging (VCI) or HDlive silhouette imaging) may be obtained from a single 3D dataset. 3D Doppler ultrasound enables visualization of the intracerebral vascularity, allowing to obtain more precise information on cerebral perfusion. Various abnormal brain conditions, including ventriculomegaly, agenesis of the corpus callosum, posterior fossa abnormalities and others, can be well-demonstrated. Due to high rates of the associated anomalies and uncertain prognosis, any suspicion of CNS abnormalities shall imply detailed ultrasonographic evaluation of the fetal anatomy to exclude the associated anomalies. Despite a growing number of neuroimaging modalities, prenatal counselling remains a challenge as prediction of brain functionality and the neurological prognosis often remain uncertain. New investigations on the relations between various migration disorders and gene mutations, as well as recent clinical research on the relations between neuroimaging detection of local migration disorders using sophisticated imaging technologies and the postnatal neurological prognosis will contribute to the development of maternal-fetal medicine as well as pediatric neurology.

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Neurodevelopmental outcome following prenatal diagnosis of an isolated anomaly of the corpus callosum

Abstract: Objectives To assess the ability of prenatal ultrasound and magnetic resonance imaging (MRI) to diagnose isolated anomalies of the corpus callosum (ACC) and to further document the long-term prognosis following diagnosis. Methods

Cited by 61 publications

References 33 publications

Main Congenital Cerebral Anomalies: How Prenatal Imaging Aids Counseling

Main Congenital Cerebral Anomalies: How Prenatal Imaging Aids Counseling

Antenatal Diagnosis of Corpus Callosal Agenesis

Three-dimensional neurosonography — a novel field in fetal medicine

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