室间隔缺损胎儿的遗传学检测及预后分析

Genetic testing and prognostic analysis of fetuses with ventricular septal defects

目的 分析71例VSD胎儿与染色体异常的关系及随访观察结果,为遗传咨询及胎儿预后提供依据。方法将2019年1月至2021年3月在新疆乌鲁木齐市妇幼保健院行超声提示VSD的71例孕妇,根据VSD是否合并心脏及心外畸形分为4个组,其中单纯VSD 37例、VSD合并心脏畸形17例,VSD合并心外畸形13例,VSD同时合并心脏及心外畸形4例,开展染色体核型及SNP-Array分析,比较四组胎儿染色体异常情况、引产率、室缺自然闭合及生长发育等。结果 71例VSD胎儿中13例染色体核型异常(18.31%),16例芯片检测结果异常(22.53%)。VSD仅合并心外畸形组染色体核型异常率明显高于单纯室缺组(P<0.05),VSD仅合并心外畸形组和VSD同时合并心脏及心外畸形组致病性CNV检出率明显高于单纯室缺组(P<0.05)。染色体核型正常胎儿中共检测出7例CNV(12.1%),其中致病性CNV为2例,意义不明CNV为5例。对71例患儿中有23例引产(32.4%),单纯VSD引产率明显低于其他各三组(P<0.05),单纯VSD组室间隔自然闭合率明显高于VSD仅合并心脏畸形组(P<0.05)。发现7例患儿生长发育迟缓,2例出现智力水平低下,四组患儿一般状况比较差异无统计学意义(P>0.05)。结论 VSD胎儿建议行遗传学检测,SNP-Array可提高遗传学异常检出率,为遗传咨询及对胎儿预后的评估提供依据。

Objective To analyse prognosis of 71 fetuses with ventricular septal defect(VSD) and its relationship with chromosomal abnormalities, provide evidence to prenatal consultation and assess fetal. Methods The fetuses diagnosed as VSD by prenatal ultrasound were divided into 4 groups, as simple VSD group(37 cases), VSD combined with cardiac malformation group(17 cases), VSD combined with extracardiac malformation group(13 cases) and VSD combined with cardiac and extracardiac malformation group(4 cases) according to whether they were combined with other cardiac structural abnormalities. Carry out chromosome karyotype and single nucleotide polymorphism microarray analysis on all fetuses from Xinjiang Urumqi Maternal and Child Health Care Hospital from January 2019 to May 2021, comparing the chromosomal abnormalities, induction rate, physical and mental development after birth, and the natural closure of VSD of the four groups of fetuses. Results Among the 71 VSD fetuses, 13 cases had abnormal karyotype(18.31%), and 16 cases had abnormal chip detection results(22.53%). The abnormal rate of chromosome karyotype in VSD combined with extracardiac malformation group was significantly higher than that in simple ventricular deficiency group(P<0.05). The detection rate of pathogenic CNV in VSD combined with extracardiac malformation group and VSD combined with cardiac and extracardiac malformation group was significantly higher than that in simple ventricular deficiency group(P<0.05). A total of 7 cases of CNV(12.1%)were detected in fetuses with normal karyotype, including 2 cases of pathogenic CNV and 5 cases of unknown CNV.23 cases(32.4%) of fetal induced labor in 71cases of VSD fetuses. The induction rate of simple VSD group was higher than that of any other three groups(P<0.05). The natural closure rate of ventricular septal defect in the simple VSD group was higher than that in the VSD combined with cardiac malformation group(P<0.05). A total of 7 cases were found to be retarded in physical development and 2 cases were retarded in mental development. There was no statistically significant difference in general condition between the four groups(P>0.05). Conclusion Patients with ventricular septal defect, should be tested by genetic testing.SNP-Array can improve the detection rate of genetic causes in VSD fetuses, and provide more information for prenatal evaluation and prognostic counseling.