The application of chromosomal microarray analysis to the prenatal diagnosis of isolated mild ventriculomegaly.

OBJECTIVE To investigate the clinical value of chromosomal microarray analysis (CMA) in the prenatal diagnosis of genetic abnormalities in fetal isolated mild ventriculomegaly. MATERIALS AND METHODS This retrospective study reviewed 101 fetuses with isolated mild ventriculomegaly who had undergone invasive prenatal diagnosis at our hospital. CMA was performed in all cases to detect chromosomal aneuploidy as well as copy number variations (CNVs) that are too small to be detected by conventional karyotyping. Real time quantitative PCR (qPCR) or multiplex ligation dependent probe amplification (MLPA) was used to confirm all fetal CNVs <400 Kb. RESULTS Except for three cases of chromosomal aneuploidy, CMA revealed pathogenic copy number variations (CNVs) in 3.0% (3/101) of the fetuses; these cases demonstrated involvement in the chromosomal regions 15q11.2, 1q21.1 and Xq27.3q28. Furthermore, we detected three likely pathogenic (3.0%) and two variants of uncertain significance (2.0%) among 101 fetuses diagnosed as isolated mild ventriculomegaly on ultrasound examination. CONCLUSION Our study suggests that CNVs could aid in the risk assessment and genetic counseling in fetuses with isolated ventriculomegaly.

• Publication year

  2019

• Venue

  Taiwanese Journal of Obstetrics & Gynecology

• Publication date

  2019-03-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1016/j.tjog.2019.01.015PMID 30910148
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Copy number variations and fetal ventriculomegaly

  2018cited by this paper
• Perinatal and long‐term outcomes in fetuses diagnosed with isolated unilateral ventriculomegaly: systematic review and meta‐analysis

  2017cited by this paper
• Clinical and genetic aspects of the 15q11.2 BP1–BP2 microdeletion disorder

  2017cited by this paper
• Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication

  2017cited by this paper
• 1q21.1 Recurrent Microdeletion

  2015cited by this paper
• The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review

  2015cited by this paper
• Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype‐genotype correlations

  2015cited by this paper
• Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies

  2014cited by this paper
• Collagen type VI myopathies.

  2014cited by this paper
• Neurodevelopmental outcome in isolated mild fetal ventriculomegaly: systematic review and meta‐analysis

  2014cited by this paper
• Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis.

  2013cited by this paper
• The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

  2013cited by this paper
• Neonatal outcome of congenital ventriculomegaly.

  2012cited by this paper
• Estimates of penetrance for recurrent pathogenic copy-number variations

  2012cited by this paper
• A Copy Number Variation Morbidity Map of Developmental Delay

  2011cited by this paper
• Prevalence, Natural History, and Clinical Outcome of Mild to Moderate Ventriculomegaly

  2011cited by this paper
• Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

  2010cited by this paper
• Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

  2010cited by this paper
• The MECP2 duplication syndrome

  2010cited by this paper
• Natural history of apparently isolated severe fetal ventriculomegaly: perinatal survival and neurodevelopmental outcome

  2009cited by this paper

• Genetic etiology of ventriculomegaly in 73 fetuses identified by High-Throughput sequencing

  2025cites this paper
• Prenatal Diagnosis of KBG Syndrome: Phenotypic and Genotypic Features of 12 Fetal Cases With the Disorder

  2025influential citation
• Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome

  2025cites this paper
• Prenatal diagnosis and pregnancy outcomes in fetuses with ventriculomegaly

  2024cites this paper
• Prenatal detection of mild fetal ventriculomegaly – a systematic review of the modern literature

  2024cites this paper
• Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China

  2023cites this paper
• A prospective study of prenatal ventriculomegaly: natural course, survival, and neurodevelopmental status.

  2023cites this paper
• Clinical Experience of Prenatal Chromosomal Microarray Analysis in 6159 Ultrasonically Abnormal Fetuses

  2023influential citation
• Sotos syndrome: A study of antenatal presentation.

  2022cites this paper
• Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

  2022cites this paper
• Chromosomal abnormalities and neurological outcomes in fetal cerebral ventriculomegaly: a retrospective cohort analysis.

  2021cites this paper
• Chromosomal microarray analysis vs. karyotyping for fetal ventriculomegaly: a meta-analysis

  2021cites this paper
• Neurodevelopmental outcomes in mild and moderate isolated ventriculomegaly originating in utero

  2021cites this paper
• Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus

  2020cites this paper
• Should chromosomal microarray be offered to fetuses with ultrasonographic soft markers in second trimester: A prospective cohort study and meta‐analysis

  2020cites this paper
• Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in foetuses with ventriculomegaly

  2020cites this paper
• Prenatal detection of 1p36 deletion syndrome: ultrasound findings and microarray testing results

  2019cites this paper
• Prenatal detection of mild fetal ventriculomegaly – a systematic review of the modern literature Pränatale Diagnose der leichten fetalen Ventrikulomegalie – Eine systematische Übersicht über die aktuelle Literatur

  year unknowncites this paper