Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with ventriculomegaly

Chang, Qing; Yang, Yanping; Peng, Yanjie; Liu, Siping; Li, Liyan; Deng, Xujie; Yang, Ming; Lan, Yu

doi:10.1016/j.ejpn.2020.01.016

Cited by 17 publications

(24 citation statements)

References 30 publications

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“…Further subgroup analysis was performed in our study. www.nature.com/scientificreports/ Consistent with data presented by Chang et al 8 , the incidences of chromosomal aberrations in foetuses with bilateral ventriculomegaly (10.56%) was significantly higher than in those with unilateral ventriculomegaly (5.71%). The incidences of both chromosomal aberrations and P/LP CNVs in foetuses with non-isolated ventriculomegaly (12.99% and 7.48%, respectively) were significantly higher than in those with isolated ventriculomegaly (2.38% and 1.02%, respectively).…”

Section: Discussionsupporting

confidence: 85%

“…Until recently, several studies have focused on the relationship between foetal ventriculomegaly and chromosomal aberrations and have reported prevalence of chromosomal aberrations ranging from 5.1 to 17.4% [8][9][10][11][12][13][14] . We speculate that such a wide range could be due to different distribution of the ventriculomegaly degrees or combined ultrasound abnormalities among different studies.…”

Section: Discussionmentioning

confidence: 99%

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Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in foetuses with ventriculomegaly

Wang

Zhang

Zhu

et al. 2020

Sci Rep

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Ventriculomegaly is considered to be linked to abnormal neurodevelopment outcome. The aim of this retrospective study was to investigate the current applications of chromosomal microarray analysis (CMA) in foetuses with ventriculomegaly. A total of 548 foetuses with ventriculomegaly detected by prenatal ultrasound underwent single nucleotide polymorphism (SNP) array testing and were subjected to long-term follow-up. The overall prevalence of chromosomal aberrations was 7.30% (40/548), including 4.20% (23/548) with pathogenic/likely pathogenic copy number variants. The incidence of chromosomal aberrations was significantly higher in foetuses with bilateral ventriculomegaly than in those with unilateral ventriculomegaly (10.56% vs. 5.71%, P = 0.040), in foetuses with non-isolated ventriculomegaly than in those with isolated ventriculomegaly (12.99% vs. 2.38%, P < 0.0001), and in foetuses with severe ventriculomegaly than in those with mild-to-moderate ventriculomegaly (23.08% vs. 6.51%, P = 0.005). The outcome in foetuses with mild ventriculomegaly was significantly better than in those with moderate ventriculomegaly (95.60% vs. 84.00%, P = 0.003). Thus, CMA should be regarded as the first-tier test for prenatal diagnosis of foetal ventriculomegaly, especially in foetuses with bilateral or non-isolated ventriculomegaly. The outcome of foetuses with mild ventriculomegaly is favourable; however, there is an increased risk of neurodevelopmental disabilities in foetuses with moderate ventriculomegaly.

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Section: Discussionsupporting

confidence: 85%

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in foetuses with ventriculomegaly

Wang

Zhang

Zhu

et al. 2020

Sci Rep

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“…On one hand, a portion of patients are reluctant to undergo cordocentesis due to surgical risk, while on the other hand, the gestation age of some pregnancies may be too late to perform invasive prenatal diagnostic procedures. The detection rate of karyotyping abnormalities reported by Chang et al 22 was 12.1%, similar to 9.4% in our study. In previous reports, 23 , 24 the chromosomal abnormality rates in severe VM pregnancies was higher than those in mild-to-moderate VM.…”

Section: Discussionsupporting

confidence: 91%

Comprehensive Assessment of Fetal Bilateral Ventriculomegaly Based on Genetic Disorders, Cytomegalovirus Infection, Extra Prenatal Imaging and Pregnancy Outcomes in a Tertiary Referral Center

Guo

Shen

et al. 2021

IJGM

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“…In a recent retrospective analysis, chromosomal karyotype abnormalities were detected in 1% of the cases with isolated VM, while no pathogenic CNVs were detected [ 42 ]. On the contrary, an additional 10% of pathogenic CNVs were found in isolated VM by Chang in a large study [ 43 ]. Even though CNVs probably have a lower detection rate than they have been previously described to have, the Society for Maternal-Fetal Medicine recommends amniocentesis with microarray CGH when ventriculomegaly is detected [ 39 ].…”

Section: Fetal Cns Abnormalitiesmentioning

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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Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with ventriculomegaly

Cited by 17 publications

References 30 publications

Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in foetuses with ventriculomegaly

Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in foetuses with ventriculomegaly

Comprehensive Assessment of Fetal Bilateral Ventriculomegaly Based on Genetic Disorders, Cytomegalovirus Infection, Extra Prenatal Imaging and Pregnancy Outcomes in a Tertiary Referral Center

Fetal Neurology: From Prenatal Counseling to Postnatal Follow-Up

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