摘要
背景:拷贝数变异(CNV)是许多神经发育障碍(ND)的重要遗传原因。然而,CNV与胎儿孤立轻度心室肥大(IMV)的发展和预后之间的关联尚不清楚。 目的:调查CNV与胎儿IMV发展的可能关联。 方法:这篇回顾性研究招募了154例经超声检查的胎儿IMV患者和190例接受高危产前血清筛查的对照组。排除的标准包括胎儿G带染色体异常或阳性胎儿TORCH感染。通过SNP阵列检查来自所有344个胎儿的DNA样品。在产后访的期间评估发育结果。 结果:154例IMV胎儿中13例发现14个致病性CNV(pCNV)。在产前筛查高危人群的190例受试者中,有3例发现pCNV有显着性差异(P值= 0.016,X2检验)。值得注意的是,IMV队列中检测到的14个pCNV都与神经发育障碍(ND)有关,包括自闭症,智力障碍。在携带pCNV的13例IMV胎儿中,在出生后随访中发现5例受试者,其中包括2例自闭症,3例轻度神经发育迟发。其余8名受试者包括3名正常年龄在12个月以下的正常婴儿,2名随访失败,3名正在怀孕终止。 在141例未检测到pCNV的IMV受试者中,123名受试者显示正常发育,16例在随访中丧失,2名受试者在胎儿发育晚期由于胎儿脑积水或先天性心脏病而终止妊娠。 结论:本研究提出pCNV与胎儿IMV之间的联系。pCNV可能参与胎儿IMV和出生后ND的病理过程。识别特定的基因组改变可以提供对发病机制的观察,并帮助更好地诊断和预测胎儿IMV中的神经发育结果。
关键词: 胎儿心室肥大,拷贝数变异,自闭症,精神发育迟滞,产前诊断。
Current Molecular Medicine
Title:Copy Number Variations with Isolated Fetal Ventriculomegaly
Volume: 17 Issue: 2
关键词: 胎儿心室肥大,拷贝数变异,自闭症,精神发育迟滞,产前诊断。
摘要: Background: Copy Number Variations (CNVs) are an important genetic cause of a number of neurodevelopmental disorders (NDs). However, the association between CNVs and the development and prognosis of fetal isolated mild ventriculomegaly (IMV) is unclear.
Objectives: To investigate possible associations between CNVs and the development of fetal IMV. Methods: This retrospective study recruited 154 subjects with ultrasound-confirmed fetal IMV and 190 subjects in a control cohort who underwent a high-risk prenatal serum screening program. The exclusion criteria included fetus G-banding chromosomal abnormality or positive fetus TORCH infection. DNA samples from all 344 fetuses were examined by an SNP-array. Developmental outcomes were assessed during postnatal follow-up. Results: Fourteen pathogenic CNVs (pCNVs) were identified in 13 out of 154 IMV fetuses. Three pCNVs were found in 3 out of 190 subjects in the prenatal screening high-risk cohort, with a significant difference (P value=0.016, X2 test). Notably, the 14 pCNVs detected in the IMV cohort were all associated with neurodevelopmental disorders (NDs), including autism, intellectual disability. Among the 13 IMV fetuses carrying pCNVs, five subjects were found in the postnatal follow-up to manifest NDs, including two with autism and three with mild neurodevelopmental delay. The other 8 subjects consisted of three normal infants younger than 12-months old, two lost in the follow-up, and three with the termination of pregnancy. Out of 141 IMV subjects without detectable pCNVs, 123 subjects showed normal development, 16 were lost in the follow-up, 2 subjects terminated the pregnancy due to fetal hydrocephalus or congenital heart disease in the late fetus development. Conclusions: This study suggests an association between pCNVs and fetal IMV. pCNVs may be involved in the pathological process of fetal IMV and postnatal NDs. Identifying specific genomic alterations may provide an insight into pathogenetic mechanism and aid better diagnosis and prognosis of neurodevelopmental outcomes in fetal IMV.Export Options
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Cite this article as:
Copy Number Variations with Isolated Fetal Ventriculomegaly, Current Molecular Medicine 2017; 17 (2) . https://dx.doi.org/10.2174/1566524017666170303125529
DOI https://dx.doi.org/10.2174/1566524017666170303125529 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
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