Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8‐year long observational study from a tertiary care university hospital

Santirocco, Maddalena; Plaja, Alberto; Rodó, Carlota; Valenzuela, Irene; Arévalo, Sílvia; Castells, Núria; Abulí, Anna; Tizzano, Eduardo F.; Maíz, Nerea; Carreras, Elena

doi:10.1002/pd.5829

Cited by 12 publications

(18 citation statements)

References 42 publications

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“…In a cohort of 238 fetuses with CNS anomalies the prevalence of pathogenic DNA copy number variants (CNVs) detected with microarray was 6.7%, once common aneuploidies of chromosomes 13, 18, 21, X, and Y were excluded. Pathogenic CNVs were more frequent in cases complicated by posterior fossa anomalies and ventriculomegaly 11 …”

Section: Recommended Prenatal Investigations and Workupmentioning

confidence: 97%

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Fetal cerebral ventriculomegaly: What do we tell the prospective parents?

et al. 2022

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Fetal cerebral ventriculomegaly is a relatively common finding, observed during approximately 1% of obstetric ultrasounds. In the second and third trimester, mild (≥10 mm) and severe ventriculomegaly (≥15 mm) are defined according to the measurement of distal lateral ventricles that is included in the routine sonographic examination of central nervous system. A detailed neurosonography and anatomy ultrasound should be performed to detect other associated anomalies in the central nervous system and in other systems, respectively. Fetal MRI might be useful when neurosonography is unavailable or suboptimal. The risk of chromosomal and non‐chromosomal genetic disorders associated with ventriculomegaly is high, therefore invasive genetic testing, including microarray, is recommended. Screening for prenatal infections, in particular cytomegalovirus and toxoplasmosis, should also be carried out at diagnosis. The prognosis is determined by the severity of ventriculomegaly and/or by the presence of co‐existing abnormalities. Fetal ventriculoamniotic shunting in progressive isolated severe ventriculomegaly is an experimental procedure. After delivery, ventricular‐peritoneal shunting or ventriculostomy are the two available options to treat hydrocephalus in specific conditions with similar long‐term outcomes. A multidisciplinary fetal neurology team, including perinatologists, geneticists, pediatric neurologists, neuroradiologists and neurosurgeons, can provide parents with the most thorough prenatal counseling. This review outlines the latest evidence on diagnosis and management of pregnancies complicated by fetal cerebral ventriculomegaly.

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Section: Recommended Prenatal Investigations and Workupmentioning

confidence: 97%

“…Pathogenic CNVs were more frequent in cases complicated by posterior fossa anomalies and ventriculomegaly. 11 Exome sequencing (ES), although currently not performed routinely, is likely to be used with increasing frequency in coming years. [12][13][14] In multisystem malformations, the incremental yield of ES can reach 30%-33%.…”

Section: Geneticmentioning

confidence: 99%

Fetal cerebral ventriculomegaly: What do we tell the prospective parents?

et al. 2022

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“…Most cases of spina bifida are of non-syndromic origin. In 2–16% of cases, spina bifida is associated with chromosomal abnormalities (predominantly trisomy 18) [ 45 , 46 ] and pathogenic CMA findings in 3.7% of cases [ 47 ]. Teratogenic causes of OSD include intake of antiepileptic drugs (i.e., valproic acid) and uncontrolled pregestational maternal diabetes mellitus [ 48 ].…”

Section: Anomalies Of Dorsal Induction-neural Tube Defectsmentioning

confidence: 99%

Fetal Brain Development: Regulating Processes and Related Malformations

Leibovitz

Lerman‐Sagie

Haddad

2022

Life

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This paper describes the contemporary state of knowledge regarding processes that regulate normal development of the embryonic–fetal central nervous system (CNS). The processes are described according to the developmental timetable: dorsal induction, ventral induction, neurogenesis, neuronal migration, post-migration neuronal development, and cortical organization. We review the current literature on CNS malformations associated with these regulating processes. We specifically address neural tube defects, holoprosencephaly, malformations of cortical development (including microcephaly, megalencephaly, lissencephaly, cobblestone malformations, gray matter heterotopia, and polymicrogyria), disorders of the corpus callosum, and posterior fossa malformations. Fetal ventriculomegaly, which frequently accompanies these disorders, is also reviewed. Each malformation is described with reference to the etiology, genetic causes, prenatal sonographic imaging, associated anomalies, differential diagnosis, complimentary diagnostic studies, clinical interventions, neurodevelopmental outcome, and life quality.

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“…Fetal brain anomalies, often in association with extra-CNS disruptions, can be the result of chromosomal aberrations, as in agenesis of corpus callosum caused by mosaic trisomy 8 and 1q43q44 microdeletion syndrome. Mosaic trisomy 9 and several unbalanced translocations can cause posterior fossa malformations [ 4 ]. Monogenic mutations are usually associated with significant neurodevelopmental disabilities, such as agenesis of corpus callosum secondary to mutations of EPG5, ZEB2, SLC12A6, and AIC genes, or in posterior fossa anomalies caused by mutations of OPHN1, FMR1, RPL 10, DKC1, and ZIC3 [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

Fetal Neurology: From Prenatal Counseling to Postnatal Follow-Up

Scelsa

2022

Diagnostics

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Brain abnormalities detected in fetal life are being increasingly recognized. Child neurologists are often involved in fetal consultations, and specific fetal neurology training has been implemented in many countries. Pediatric neurologists are asked to examine the data available and to contribute to the definition of the long-term outcomes. Ventriculomegaly, posterior fossa malformations, and agenesis/dysgenesis of corpus callosum are among the most common reasons for antenatal neurological consultations. Fetuses with central nervous system and extra-CNS anomalies should ideally be managed in secondary/tertiary hospitals where obstetricians who are experts in fetal medicine and pediatric specialists are available. Obstetricians play a critical role in screening, performing detailed neurosonography, and referring to other specialists for additional investigations. Clinical geneticists are frequently asked to propose diagnostic tests and counsel complex fetal malformations whose phenotypes may differ from those during postnatal life. Advances in fetal MRI and genetic investigations can support the specialists involved in counseling. Nevertheless, data interpretation can be challenging, and it requires a high level of expertise in a multidisciplinary setting. Postnatally, child neurologists should be part of an integrated multidisciplinary follow-up, together with neonatologists and pediatricians. The neurodevelopmental outcomes should be assessed at least up to school age. Children should be evaluated with formal tests of their gross motor, cognitive, language, fine motor/visuo-perceptual skills, and their behavior. In this perspective, fetal neurology can be regarded as the beginning of a long journey which continues with a prolonged, structured follow-up, support to the families, and transition to adult life. A review of the most common conditions is presented, along with the long-term outcomes and a proposal of the neurodevelopmental follow-up of children with CNS malformation which are diagnosed in uterus.

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Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8‐year long observational study from a tertiary care university hospital

Cited by 12 publications

References 42 publications

Fetal cerebral ventriculomegaly: What do we tell the prospective parents?

Fetal cerebral ventriculomegaly: What do we tell the prospective parents?

Fetal Brain Development: Regulating Processes and Related Malformations

Fetal Neurology: From Prenatal Counseling to Postnatal Follow-Up

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