Chromosomal abnormalities in fetuses with ultrasonographically detected neural tube defects

Kant, Hakan; Özkan, Azra Arc; Öner, Soner Recai; Ispahi, Çiğdem; Endrikat, Jan; Ertan, Kubilay

doi:10.1097/mcd.0b013e328348d99d

Cited by 14 publications

(5 citation statements)

References 12 publications

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“…2.3% in anencephaly, 7.1% in encephalocele, and 10.2% in meningomyelocele [22]. It is consistent across several studies that encephalocele have higher chromosomal abnormality rate than anencephaly, and spina bifida have higher chromosomal abnormality rate than craniorachischisis [41], [42], [43]. Among all the detected chromosomal abnormalities, trisomy was the most common chromosomal abnormality associated with NTDs [43].…”

Section: Discussionsupporting

confidence: 81%

“…1) None of the cases harbored CNVs larger than 3 Mb, the majority of CNVs were between 100–500 kb in size and no trisomy was detected in this not previously screened NTD cohort. Previous studies identified large chromosomal abnormalities including trisomy in a significant percentage of NTD cases among patients from Western countries [21], [22], [23], [41], [42]; this phenomenon may indicate underlying genetic differences between our cohort collected in Shanxi region and cases collected for previous studies. 2) The NTD cases collected for this study consisted of many cases with additional malformations outside the nervous system.…”

Section: Discussionmentioning

confidence: 63%

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Detection of Copy Number Variants Reveals Association of Cilia Genes with Neural Tube Defects

et al. 2013

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BackgroundNeural tube defects (NTDs) are one of the most common birth defects caused by a combination of genetic and environmental factors. Currently, little is known about the genetic basis of NTDs although up to 70% of human NTDs were reported to be attributed to genetic factors. Here we performed genome-wide copy number variants (CNVs) detection in a cohort of Chinese NTD patients in order to exam the potential role of CNVs in the pathogenesis of NTDs.MethodsThe genomic DNA from eighty-five NTD cases and seventy-five matched normal controls were subjected for whole genome CNVs analysis. Non-DGV (the Database of Genomic Variants) CNVs from each group were further analyzed for their associations with NTDs. Gene content in non-DGV CNVs as well as participating pathways were examined.ResultsFifty-five and twenty-six non-DGV CNVs were detected in cases and controls respectively. Among them, forty and nineteen CNVs involve genes (genic CNV). Significantly more non-DGV CNVs and non-DGV genic CNVs were detected in NTD patients than in control (41.2% vs. 25.3%, p<0.05 and 37.6% vs. 20%, p<0.05). Non-DGV genic CNVs are associated with a 2.65-fold increased risk for NTDs (95% CI: 1.24–5.87). Interestingly, there are 41 cilia genes involved in non-DGV CNVs from NTD patients which is significantly enriched in cases compared with that in controls (24.7% vs. 9.3%, p<0.05), corresponding with a 3.19-fold increased risk for NTDs (95% CI: 1.27–8.01). Pathway analyses further suggested that two ciliogenesis pathways, tight junction and protein kinase A signaling, are top canonical pathways implicated in NTD-specific CNVs, and these two novel pathways interact with known NTD pathways.ConclusionsEvidence from the genome-wide CNV study suggests that genic CNVs, particularly ciliogenic CNVs are associated with NTDs and two ciliogenesis pathways, tight junction and protein kinase A signaling, are potential pathways involved in NTD pathogenesis.

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Section: Discussionsupporting

confidence: 81%

Section: Discussionmentioning

confidence: 63%

Detection of Copy Number Variants Reveals Association of Cilia Genes with Neural Tube Defects

et al. 2013

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“…Two of these had trisomy 18, and both had OMP (Ekin et al, ). A wide array of other sources suggest higher NTD incidence in aneuploidy (Hume et al, ; Kanit et al, ; Kennedy, Chitayat, Winsor, Silver, & Toi, ; Nielsen, Maroun, Broholm, Laursen, & Graem, ; Sepulveda et al, ; Stoll, Alembik, Dott, & Roth, ).…”

Section: Discussionmentioning

confidence: 99%

A review of genetic factors underlying craniorachischisis and omphalocele: Inspired by a unique trisomy 18 case

Tobin

Gunaji

Walsh

et al. 2019

American J of Med Genetics Pt A

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Very few cases of craniorachischisis (CRN) with concomitant omphalocele (OMP) in the setting of trisomy 18 are reported in literature. Solitary midline closure defects are estimated to be more prevalent in trisomy 18 compared to the general population. Neurulation defect comparisons include anencephaly 0-2% versus 0.0206%, spina bifida 1-3% versus 0.0350%, and encephalocele 0-2% versus 0.0082% [Parker et al. (2010); Birth Defects Research. Part A: Clinical and Molecular Teratology, 88:1008-1016; Springett et al. (2015); American Journal of Medical Genetics. Part A, 167A:3062-3069]. The solitary anterior malformation OMP has been reported as high as 6% with trisomy 18 [Springett et al. (2015); American Journal of Medical Genetics. Part A, 167A:3062-3069]. We report the third published case of CRN with concomitant OMP observed in a likely trisomy 18 fetus that screened positive by noninvasive prenatal screening. Furthermore, we review and analyze the current literature to augment understanding of the genetic basis for anterior and posterior closure defects such as CRN and OMP. Although the current genetic lexicon lacks any definitive association with the simultaneous defects presented, previous research elucidated various genes related to anterior or posterior closure interruption individually. By consolidating current research, the authors advance knowledge of interconnected genetic pathology and direct future genetic mapping efforts.

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“…15 In less than 10% of cases, spina bifida is due to genetic syndromes or chromosomal anomalies, including the common trisomies 13 and 18, triploidy and microdeletions or duplications. [16][17][18] Most of these fetuses would present with anomalies in different organ systems 19 What's already known about this topic?…”

Section: Epidemiology and Risk Factorsmentioning

confidence: 99%

Fetal spina bifida: What we tell the parents

et al. 2020

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Worldwide, about 150 000 infants are born with spina bifida yearly, making this condition one of the most common fetal central nervous system anomalies compatible with life. Over the last decade, major changes have been introduced in the prenatal diagnosis and management of spina bifida. In this review, we provide a brief summary of the current management of fetal spina bifida and present essential information that should be provided to expecting parents when their fetus has been diagnosed with spina bifida. This information is focused around common parental questions, as encountered in our typical clinical practice, to facilitate knowledge translation.

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Chromosomal abnormalities in fetuses with ultrasonographically detected neural tube defects

Cited by 14 publications

References 12 publications

Detection of Copy Number Variants Reveals Association of Cilia Genes with Neural Tube Defects

Detection of Copy Number Variants Reveals Association of Cilia Genes with Neural Tube Defects

A review of genetic factors underlying craniorachischisis and omphalocele: Inspired by a unique trisomy 18 case

Fetal spina bifida: What we tell the parents

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