Prenatal diagnosis of malformations of cortical development by dedicated neurosonography

Malinger, G.; Kidron, Debora; Schreiber, Letizia; Ben‐Sira, Liat; Hoffmann, Chen; Lev, Dorit; Lerman‐Sagie, Tally

doi:10.1002/uog.3906

Cited by 96 publications

(93 citation statements)

References 31 publications

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“…Hence, the authors advocate caution in giving a prognosis in euploid cases of 'apparently' isolated SVM. More recently, refinements in 2D fetal neurosonography (Cohen-Sacher et al, 2006;Malinger et al, 2007) from the normal pattern of development (Cohen-Sacher et al, 2006). In specialist centres, MRI interpretation has improved the detection of brain parenchymal disorders, migrational abnormalities and irregularities of the ventricular walls, such as heterotopias (Griffiths et al, 2003;Pistorius et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

Natural history of apparently isolated severe fetal ventriculomegaly: perinatal survival and neurodevelopmental outcome

2009

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Objective To review the prenatal diagnosis of apparently isolated severe ventriculomegaly (SVM) in a tertiary referral fetal medicine unit and report on perinatal and neurodevelopmental outcomes.Methods All cases of isolated SVM referred to Fetal Medicine at the NMH between 2000 and 2008 were identified. Outcome information was obtained from detailed telephone interviews with parents and paediatric records and histopathology in cases of stillborn fetuses.Results Thirty-six cases of SVM were referred, out of which 19 were diagnosed with 'apparently' isolated SVM. Macrocrania was present in 88% at 36 weeks (mean HC 439 mm). Cephalocentesis was performed in six cases with poor prognosis. All resulted in perinatal loss. The neurodevelopmental outcome of survivors with isolated SVM (ten live-born survivors) showed major neurological morbidity in 50% (5/10) of the cases, mild morbidity in 40% (4/10) and a normal outcome in only one case.Conclusion Isolated SVM had a very poor perinatal outcome with neurological and physical disability in the overwhelming majority. Only one case of the 17 (6%) diagnosed initially with 'apparently' isolated SVM was born alive without handicap. Information from our series may aid couples in decision making about pregnancy interruption and the difficult decision of prenatal or intrapartum cephalocentesis.

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Section: Discussionmentioning

confidence: 99%

Natural history of apparently isolated severe fetal ventriculomegaly: perinatal survival and neurodevelopmental outcome

2009

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“…MCDs can be diagnosed in utero, with the most severe disorders (lissencephaly, PMG and large heterotopia) detected during pregnancy with fetal ultrasound and fetal MRI [41]. For disorders detected after birth, children develop early MCD-related symptoms, such as developmental delay, epilepsy and ID, even during the first year of life depending on the severity of the malformation [42].…”

Section: Neuronal Migration Disorder Classification and Mutant Genesmentioning

confidence: 99%

Genetics and mechanisms leading to human cortical malformations

Romero

Bahi‐Buisson

Francis

2018

Seminars in Cell & Developmental Biology

109

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“…Overproduction of CSF is observed in cases of choroid plexus papilloma (Di Rocco and Iannelli, 1997;Nejat et al, 2007) thus defining a 'nonobstructive' lesion. VM can be secondary to disorders of neuronal proliferation (megalencephaly, microcephaly), neuronal migration (schizencephaly, lissencephaly), agenesis of the corpus callosum (ACC) or disorders of organogenesis, such as holoprosencephaly (Ashwal, 2001;Fong et al, 2004;Malinger et al, 2007;Pastorino et al, 2007). Finally, it can be the consequence of destructive processes of the cerebral matter, resulting from vascular insults or infections (Pilu and Hobbins, 2002;Zimmerman and Bilaniuk, 2005).…”

Section: Prenatal Definitionsmentioning

confidence: 99%

The significance of fetal ventriculomegaly: etiology, short‐ and long‐term outcomes

Gaglioti¹,

Oberto²,

Todros³

2009

Prenatal Diagnosis

134

119

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Fetal cerebral ventriculomegaly (VM) is diagnosed when the width of one or both ventricles, measured at the level of the glomus of the choroid plexus (atrium), is ≥10 mm. VM can result from different processes: abnormal turnover of the cerebrospinal fluid (CSF), neuronal migration disorders, and destructive processes. In a high percentage of cases, it is associated with structural malformations of the central nervous system (CNS), but also of other organs and systems. The rate of associated malformations is higher (≥60%) in severe VM (>15 mm) and lower (10-50%) in cases of borderline VM (10-15 mm). When malformations are not present, aneuploidies are found in 3-15% of borderline VM; the percentage is lower in severe VM. The neurodevelopmental outcome of isolated VM is normal in >90% of cases if the measurement of ventricular width is between 10 and 12 mm; it is less favorable when the measurement is >12 mm.

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Prenatal diagnosis of malformations of cortical development by dedicated neurosonography

Abstract: ABSTRACT

Cited by 96 publications

References 31 publications

Natural history of apparently isolated severe fetal ventriculomegaly: perinatal survival and neurodevelopmental outcome

Natural history of apparently isolated severe fetal ventriculomegaly: perinatal survival and neurodevelopmental outcome

Genetics and mechanisms leading to human cortical malformations

The significance of fetal ventriculomegaly: etiology, short‐ and long‐term outcomes

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