Abstract：
OBJECTIVE: The aim of this study was to examine whether there is a correlation between different types of ventricular septal defects (VSD) and chromosomal abnormalities in the low-risk setting of non-invasive prenatal testing (NIPT) and to evaluate the prognosis of fetuses with varying types of VSD.
METHODS: Cases of pregnant women who underwent amniocentesis due to fetal VSD were collected by Tianjin Central Hospital of Obstetrics and Gynecology from May 2017 to May 2022. Exclusions were made for those without NIPT, with high-risk NIPT results, genetic disorders, and those lost to follow-up. Data collected included ultrasound classification of VSD, prenatal NIPT results, copy-number variations (CNVs) results, and neonatal outcomes.
RESULTS: The prevalence of pathogenic CNVs was investigated in 74 cases of VSDs. Of these cases, 45 were isolated VSDs (9 muscular and 36 non-muscular) and 29 were non-isolated VSDs (10 with intracardiac and 19 with extra-cardiac structural anomalies). The results revealed that the incidence of pathogenic CNVs was lower in isolated VSDs compared to non-isolated VSDs in a low-risk NIPT condition (χ2 = 9.344, P = 0.002). There was no significant difference in the prevalence of pathogenic CNVs between VSDs with intracardiac and extra-cardiac structural anomalies (P = 0.541). Moreover, VSDs associated with intracardiac structural anomalies had the highest rate of surgical intervention.
CONCLUSIONS: When NIPT is low-risk and VSD is isolated, the likelihood of fetal chromosomal defects is not increased. However, if there are intra- or extra-cardiac structural abnormalities present alongside VSD, the possibility of pathogenic CNV is considerably greater, necessitating invasive prenatal diagnosis. Isolated muscular VSDs usually do not require surgery, which can be used as a basis for prenatal counseling regarding fetal VSD.
METHODS: Cases of pregnant women who underwent amniocentesis due to fetal VSD were collected by Tianjin Central Hospital of Obstetrics and Gynecology from May 2017 to May 2022. Exclusions were made for those without NIPT, with high-risk NIPT results, genetic disorders, and those lost to follow-up. Data collected included ultrasound classification of VSD, prenatal NIPT results, copy-number variations (CNVs) results, and neonatal outcomes.
RESULTS: The prevalence of pathogenic CNVs was investigated in 74 cases of VSDs. Of these cases, 45 were isolated VSDs (9 muscular and 36 non-muscular) and 29 were non-isolated VSDs (10 with intracardiac and 19 with extra-cardiac structural anomalies). The results revealed that the incidence of pathogenic CNVs was lower in isolated VSDs compared to non-isolated VSDs in a low-risk NIPT condition (χ2 = 9.344, P = 0.002). There was no significant difference in the prevalence of pathogenic CNVs between VSDs with intracardiac and extra-cardiac structural anomalies (P = 0.541). Moreover, VSDs associated with intracardiac structural anomalies had the highest rate of surgical intervention.
CONCLUSIONS: When NIPT is low-risk and VSD is isolated, the likelihood of fetal chromosomal defects is not increased. However, if there are intra- or extra-cardiac structural abnormalities present alongside VSD, the possibility of pathogenic CNV is considerably greater, necessitating invasive prenatal diagnosis. Isolated muscular VSDs usually do not require surgery, which can be used as a basis for prenatal counseling regarding fetal VSD.
摘要：
目的：本研究的目的是检查不同类型的室间隔缺损（VSD）与低风险非侵入性产前检测（NIPT）的染色体异常之间是否存在相关性，并评估不同类型VSD胎儿的预后。
方法：收集天津市中心妇产科医院2017年5月至2022年5月因胎儿VSD行羊膜腔穿刺的孕妇病例。排除了那些没有NIPT的人，具有高风险的NIPT结果，遗传性疾病,和那些失去了后续行动。收集的数据包括VSD的超声分类，产前NIPT结果，拷贝数变异(CNVs)结果，和新生儿结局。
结果：在74例VSDs中调查了致病性CNV的患病率。在这些案件中,45例是孤立的VSD（9例肌肉和36例非肌肉），29例是非孤立的VSD（10例心内和19例心外结构异常）。结果表明，在低风险NIPT条件下，分离的VSD中致病性CNV的发生率低于非分离的VSD（χ2=9.344，P=0.002）。心内和心外结构异常的VSD之间致病性CNV的患病率没有显着差异（P=0.541）。此外，与心内结构异常相关的VSD具有最高的手术干预率。
结论：当NIPT是低风险的并且VSD被隔离时，胎儿染色体缺陷的可能性没有增加。然而,如果VSD同时存在心脏内或心脏外结构异常，致病性CNV的可能性要大得多，需要侵入性产前诊断。孤立的肌肉VSD通常不需要手术，可作为胎儿VSD的产前咨询依据。
方法：收集天津市中心妇产科医院2017年5月至2022年5月因胎儿VSD行羊膜腔穿刺的孕妇病例。排除了那些没有NIPT的人，具有高风险的NIPT结果，遗传性疾病,和那些失去了后续行动。收集的数据包括VSD的超声分类，产前NIPT结果，拷贝数变异(CNVs)结果，和新生儿结局。
结果：在74例VSDs中调查了致病性CNV的患病率。在这些案件中,45例是孤立的VSD（9例肌肉和36例非肌肉），29例是非孤立的VSD（10例心内和19例心外结构异常）。结果表明，在低风险NIPT条件下，分离的VSD中致病性CNV的发生率低于非分离的VSD（χ2=9.344，P=0.002）。心内和心外结构异常的VSD之间致病性CNV的患病率没有显着差异（P=0.541）。此外，与心内结构异常相关的VSD具有最高的手术干预率。
结论：当NIPT是低风险的并且VSD被隔离时，胎儿染色体缺陷的可能性没有增加。然而,如果VSD同时存在心脏内或心脏外结构异常，致病性CNV的可能性要大得多，需要侵入性产前诊断。孤立的肌肉VSD通常不需要手术，可作为胎儿VSD的产前咨询依据。
