论文部分内容阅读
目的探讨胎儿心脏畸形类型与染色体异常的关系,为遗传咨询提供依据,更好的评估胎儿预后,指导临床处理。方法收集2014年1月至2016年12月因胎儿心脏结构畸形在我院行介入性产前诊断病例共146例,将病例分成心脏单发畸形、心脏复合畸形和心脏畸形合并心外畸形3组,所有病例均进行绒毛、羊水或脐血细胞培养染色体核型分析,20例染色体核型正常的CHD同时行CMA检测CNV。结果 CHD染色体核型异常发生率为17.81%(26/146),其中心脏单发畸形组染色体核型异常占6.25%(5/80),心脏复合畸形组和心脏畸形合并心外畸形组分别占30.77%(8/26)和32.50%(13/40),与心脏单发畸形组比较,差异均有统计学意义(P<0.001);CMA检测CNV检出率为10%(2/20),将染色体异常检出率提高近2%。结论胎儿心脏畸形与染色体异常关系密切,特别是心脏复合畸形或心脏合并心外畸形,染色体异常检出率高,而CNV检测可以提高染色体异常检出率;因此,当产前超声诊断胎儿心脏畸形时,特别是心脏复合畸形或心脏合并心外畸形时,应建议行胎儿染色体核型分析及CNV检测,以更好的评估胎儿预后,为遗传咨询提供依据,减少染色体异常的CHD患儿出生。
Objective To investigate the relationship between fetal cardiac malformations and chromosomal abnormalities and provide basis for genetic counseling to evaluate fetal prognosis and guide clinical treatment. Methods A total of 146 cases of prenatal diagnosis of fetal cardiac structural abnormalities were collected from January 2014 to December 2016 in our hospital. The cases were divided into three groups: single heart deformity, cardiac complex deformity and cardiac malformation. , All cases were chorionic karyotype analysis of villus, amniotic fluid or umbilical cord blood cell culture, 20 cases of CHD with normal karyotype were detected by CMA simultaneously CNV. Results The incidence of chromosomal abnormalities in CHD was 17.81% (26/146), of which 6.25% (5/80) were chromosomal abnormalities in the single cardiac abnormality group. The rates of abnormal cardiac kyphosis group and cardiac malformation group were 30.77% (8/26) and 32.50% (13/40) respectively. The difference was statistically significant (P <0.001) compared with single heart deformity group. The detection rate of CNV by CMA was 10% (2/20) , The detection rate of chromosomal abnormalities increased by nearly 2%. Conclusions Fetal heart deformity is closely related to chromosomal abnormalities, especially cardiac composite deformities or cardiac combined with extra-cardiac abnormalities. The detection rate of chromosomal abnormalities is high while CNV detection can improve the detection rate of chromosomal abnormalities. Therefore, when prenatal ultrasound diagnosis of fetal heart deformity , Especially in patients with cardiac deformity or cardiac malformations, fetal karyotype analysis and CNV testing should be recommended to better assess fetal prognosis and provide basis for genetic counseling to reduce the birth of CHD children with chromosomal abnormalities.