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目的通过对1369例超声筛查心血管发育异常胎儿的染色体分析与研究,探讨不同异常指征与其染色体异常的相关性,给于产前指导评估,减少出生缺陷。方法 2012年1月至2016年5月怀孕17-30周的1369例超声筛查心血管发育异常的胎儿经遗传咨询后羊水穿刺进行核型分析,统计和分析不同类型的心血管异常指征与异常核型的关系及比率。结果 1369例心血管发育异常胎儿中,共检出异常核型56例,异常比率4.09%。按照异常指征分为心室强光点570例,检出异常核型8例,其中21三体3例、易位3例、XO 2例,异常比率1.40%;室间隔缺损122例,检出异常核型6例,其中21三体1例、易位2例、18三体2例、XO 1例,异常比率4.92%;单脐动脉78例,检出异常核型1例,为21三体,异常比率1.28%;血管环23例,检出1例易位核型,异常比率4.35%。其他单纯心血管发育异常(包括心包积液、三尖瓣返流、持续性右脐静脉、肺动脉瓣狭窄或发育畸形等)33例,检出异常核型1例,为21三体,异常比率3.03%;合并两项及以上心血管发育异常指征114例,检出异常核型7例,其中21三体3例、易位3例、mar1例,异常比率6.14%;心血管发育异常合并心外异常(包括NT或NF值增厚、高龄、唐筛高风险、羊水量异常等)指征429例,检出异常核型32例,其中21三体13例、18三体11例、易位1例、缺失3例、mar 2例、三倍体1例、XO 1例,异常比率7.46%。结论先天性心血管发育异常胎儿的染色体异常发生率较高,染色体异常会导致不同类型的心血管及心外发育异常,发现胎儿心脏异常征象时应建议进行染色体检查,避免染色体异常患儿的出生。
Objective To investigate the relationship between different abnormalities and their chromosomal abnormalities by analyzing the 1369 cases of fetal umbilical cord blood and investigate the relationship between different abnormalities and their chromosomal abnormalities and give prenatal guidance to reduce birth defects. Methods From January 2012 to May 2016, 1369 pregnant women aged 17-30 weeks were enrolled in this study. The karyotypes were analyzed by amniocentesis after genetic counseling and the different types of cardiovascular abnormalities were analyzed and analyzed. Abnormal karyotype and the relationship between the rate. Results Among 1369 cases of abnormal fetal cardiovascular development, 56 cases of abnormal karyotype were detected, with an abnormal rate of 4.09%. According to the abnormal sign, 570 cases were divided into two groups, including 8 cases of abnormal karyotype, 3 cases of 21 trisomy, 3 cases of translocation, 2 cases of XO, abnormal rate of 1.40%; 122 cases of ventricular septal defect Abnormal karyotype in 6 cases, including 21 trisomy in 1 case, 2 cases of translocation, 18 cases of trisomy in 2 cases, 1 case of XO, abnormal rate of 4.92%; 78 cases of single umbilical artery, abnormal karyotype was detected in 1 case, 21 cases The body and abnormal rate was 1.28%. In 23 cases of vascular ring, one case of translocation karyotype was detected with an abnormal rate of 4.35%. Other simple cardiovascular abnormalities (including pericardial effusion, tricuspid regurgitation, persistent right umbilical vein, pulmonary valve stenosis or deformity, etc.) in 33 cases, one case was detected abnormal karyotype, trisomy 21, the abnormal rate 3.03%; combined two or more indicators of cardiovascular development in 114 cases of abnormal karyotype detected in 7 cases, including 21 trisomy in 3 cases, 3 cases of translocation, marl case, the abnormal rate of 6.14%; cardiovascular abnormalities merger There were 429 cases of abnormal cardiac abnormalities (including thickening of NT or NF, advanced age, high risk of Tang Screening, abnormal amniotic fluid, etc.), 32 cases of abnormal karyotype were found, including 13 cases of 21 trisomy, 11 cases of trisomy 18, 1 case of translocation, 3 cases of deletion, 2 cases of mar, 1 case of triploid, 1 case of XO, and abnormal rate of 7.46%. Conclusions The incidence of chromosomal abnormalities in fetuses with congenital cardiovascular abnormalities is high. Chromosomal abnormalities may lead to different types of cardiovascular and extra-cardiac developmental abnormalities. Chromosomal examination should be recommended when fetal heart abnormalities are found, so as to prevent the birth of children with chromosomal abnormalities .