ArticleArchives of gynecology and obstetrics2023
Pathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations.
Article in Archives of gynecology and obstetrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Clinical characteristics and genetic analysis of different Dandy-Walker malformation.BMC pregnancy and childbirth · 2026Article
- Assessing the clinical application value of SNP-array in fetal central nervous system malformations.Human genomics · 2025Article
- Detection of genomic variants by genome sequencing in foetuses with central nervous system abnormalities.Annals of medicine · 2024Article
- Genetic etiology and pregnancy outcomes of fetuses with central nervous system anomalies.Archives of gynecology and obstetrics · 2024Article
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Authors and funding
8 authors at 1 institution in 1 country.
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Abstract
objectiveTo explore pathogenic/likely pathogenic copy number variations (P/LP CNVs) and regions of homozygosity (ROHs) in fetal central nervous system (CNS) malformations.
methodsA cohort of 539 fetuses with CNS malformations diagnosed by ultrasound/MRI was retrospectively analyzed between January 2016 and December 2019. All fetuses were analyzed by chromosomal microarray analysis (CMA). Three cases with ROHs detected by CMA were subjected to whole-exome sequencing (WES). The fetuses were divided into two groups according to whether they had other structural abnormalities. The CNS phenotypes of the two groups were further classified as simple (one type) or complicated (≥ 2 types).
results(1) A total of 35 cases with P/LP CNVs were found. The incidence of P/LP CNVs was higher in the extra-CNS group [18.00% (9/50)] than in the isolated group [5.32% (26/489)] (P < 0.01), while there was no significant difference between the simpletype and complicated-type groups. (2) In the simple-type group, the three most common P/LP CNV phenotypes were holoprosencephaly, Dandy-Walker syndrome, and exencephaly. There were no P/LP CNVs associated with anencephaly, microcephaly, arachnoid cysts, ependymal cysts, or intracranial hemorrhage. (3) Only four cases with ROHs were found, and there were no cases of uniparental disomy or autosomal diseases.
conclusionThe P/LP CNV detection rates varied significantly among the different phenotypes of CNS malformations, although simple CNS abnormalities may also be associated with genetic abnormalities.
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