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Abstract：
BACKGROUND: Ventricular septal defect (VSD) is the most common subtype of congenital heart disease. In the present study, we aimed to determine whether chromosome aberration was associated with the occurrence of VSD and evaluate the association of VSD size, location and chromosome aberration with adverse outcomes in the Chinese fetuses.
METHODS: Fetuses with VSD and comprehensive follow-up data were included and evaluated retrospectively. Medical records were used to collect epidemiological data and foetal outcomes. For VSD fetuses, conventional karyotype and microarray analysis were conducted. After adjusting confounding factors by using multivariable logistic regression analyses, the association between chromosome variations and VSD occurrence was explored. The association between defect size, location and chromosome aberrations and adverse foetal outcomes was also investigated.
RESULTS: Chromosome aberration was the risk factor for VSD occurrence, raising 6.5-fold chance of developing VSD. Chromosome aberration, peri-membranous site and large defect size of VSD were significant risk factors of adverse fetal outcome. Chromosome aberrations, including pathogenic copy number variations (CNVs) and variations of uncertain significance (VUS), were both risk factors, increasing the risk of the adverse fetal outcome by 55.9 times and 6.7 times, respectively. The peri-membranous site would increase 5.3-fold risk and defects larger than 5 mm would increase the 7.1-fold risk for poor fetal outcome.
CONCLUSIONS: The current investigation revealed that chromosomal abnormalities, large defects, and the peri-membranous site were all risk factors for poor fetal outcomes. Our study also indicated that chromosome aberration was one of risk factors for the VSD occurrence.
METHODS: Fetuses with VSD and comprehensive follow-up data were included and evaluated retrospectively. Medical records were used to collect epidemiological data and foetal outcomes. For VSD fetuses, conventional karyotype and microarray analysis were conducted. After adjusting confounding factors by using multivariable logistic regression analyses, the association between chromosome variations and VSD occurrence was explored. The association between defect size, location and chromosome aberrations and adverse foetal outcomes was also investigated.
RESULTS: Chromosome aberration was the risk factor for VSD occurrence, raising 6.5-fold chance of developing VSD. Chromosome aberration, peri-membranous site and large defect size of VSD were significant risk factors of adverse fetal outcome. Chromosome aberrations, including pathogenic copy number variations (CNVs) and variations of uncertain significance (VUS), were both risk factors, increasing the risk of the adverse fetal outcome by 55.9 times and 6.7 times, respectively. The peri-membranous site would increase 5.3-fold risk and defects larger than 5 mm would increase the 7.1-fold risk for poor fetal outcome.
CONCLUSIONS: The current investigation revealed that chromosomal abnormalities, large defects, and the peri-membranous site were all risk factors for poor fetal outcomes. Our study also indicated that chromosome aberration was one of risk factors for the VSD occurrence.
摘要：
背景：室间隔缺损（VSD）是先天性心脏病最常见的亚型。在本研究中,我们的目的是确定染色体畸变是否与VSD的发生有关，并评估VSD大小的相关性，中国胎儿的位置和染色体畸变与不良结局。
方法：纳入合并VSD的胎儿和综合随访资料并进行回顾性评估。医疗记录用于收集流行病学数据和胎儿结局。对于VSD胎儿，进行了常规核型和微阵列分析。在使用多变量逻辑回归分析调整混杂因素后，探讨了染色体变异与VSD发生之间的关联。缺陷大小之间的关联，还研究了位置和染色体畸变以及不良胎儿结局.
结果：染色体畸变是VSD发生的危险因素，提高发展VSD的6.5倍机会。染色体畸变,VSD的膜周部和大尺寸缺损是不良胎儿结局的重要危险因素。染色体畸变,包括致病性拷贝数变异(CNVs)和不确定显著性变异(VUS)，都是危险因素，不良胎儿结局的风险分别增加55.9倍和6.7倍，分别。膜周围部位将增加5.3倍的风险，而大于5mm的缺陷将增加不良胎儿结局的7.1倍的风险。
结论：当前的调查显示，染色体异常，大缺陷,和膜周部位都是不良胎儿结局的危险因素。我们的研究还表明，染色体畸变是VSD发生的危险因素之一。
方法：纳入合并VSD的胎儿和综合随访资料并进行回顾性评估。医疗记录用于收集流行病学数据和胎儿结局。对于VSD胎儿，进行了常规核型和微阵列分析。在使用多变量逻辑回归分析调整混杂因素后，探讨了染色体变异与VSD发生之间的关联。缺陷大小之间的关联，还研究了位置和染色体畸变以及不良胎儿结局.
结果：染色体畸变是VSD发生的危险因素，提高发展VSD的6.5倍机会。染色体畸变,VSD的膜周部和大尺寸缺损是不良胎儿结局的重要危险因素。染色体畸变,包括致病性拷贝数变异(CNVs)和不确定显著性变异(VUS)，都是危险因素，不良胎儿结局的风险分别增加55.9倍和6.7倍，分别。膜周围部位将增加5.3倍的风险，而大于5mm的缺陷将增加不良胎儿结局的7.1倍的风险。
结论：当前的调查显示，染色体异常，大缺陷,和膜周部位都是不良胎儿结局的危险因素。我们的研究还表明，染色体畸变是VSD发生的危险因素之一。
