【摘要】 目的 探讨胎儿心脏结构异常与染色体疾病的相关性。方法 回顾性分析中孕期(18～28周)心脏结构异常的1751例胎儿染色体核型及CNV检测结果并随访妊娠结局。结果 (1)1751例中检出染色体异常483例(27.58%),包括非整倍体376例、染色体结构异常13例、CNV异常94例。(2)非整倍体有21-三体208例、18-三体107例、13-三体33例、16-三体1例、45,X 14例、47,XXY 5例、47,XXX 6例。染色体不平衡易位11例(母系遗传2例);平衡易位2例(父系遗传)。(3)仅CNV异常94例，其中致病CNV 29例(母系遗传2例),疑似致病CNV 7例(均为新发突变);临床意义不明有58例(21例新发突变)。CNV检测使染色体异常的检出率提升了5.37%。(4)非整倍体376例及不平衡易位11例、致病CNV 28例、疑似致病CNV 7例选择终止妊娠。致病CNV 1例(母系来源)、平衡易位2例，继续妊娠，出生后未见异常。临床意义不明中38例选择终止妊娠，20例继续妊娠其中3例出生后手术治疗。结论 胎儿心脏结构异常与染色体疾病相关；CNV检测技术提升了心脏结构异常胎儿染色体疾病的检出率。更多还原

【Abstract】 Objective To explore the correlation between fetal cardiac structural abnormalities and chromosomal diseases. Methods A retrospective analysis was conducted on the kanyotype and CNV test results of 1751 fetuses with abnomal cardiac stucture during the second trimeter(18-28 weeks),and the pregnancy outcomes were followed up. Results 1. Among the 1751 cases, 483 cases(27.58%)were detected with chromosomal abnormalities, including 376 cases of aneuploidy, 13 cases of chromosomal structural abnormalities, and 94 cases of CNV abnormalities. 2. There were 208 cases of 21-trisomy, 107 cases of 18-trisomy, 33 cases of 13-trisomy, one case of 16-trisomy, 45,X 14 cases, 47,XXY 5 cases, 47,XXX6 cases of aneuploidy. 11 cases of chromosomal imbalanced translocation(two cases of maternal inheritance);Two cases of balanced translocation(patrilineal inheritance). 3. There were only 94 cases of abnormal CNV,among which 29 cases were pathogenic CNV(two cases of maternal inheritance),7 cases were suspected pathogenic CNV(all were de novo mutations),58 cases were unknown clinical significance(21 cases were de novo mutations). CNV detection increased the detection rate of chromosomal abnormalities by 5.37%. 4.376 cases of aneuploidy, 11 cases of unbalanced translocation, 28 cases of pathogenic CNV and 7 cases of suspected pathogenic CNV chose to terminate the pregnancy. There was one cases of pathogenic CNV(maternal origin),two cases of balanced translocation, continued pregnancy, and no abnormality was found after birth. Among the cases with unknown clinical significance, 38 cases chose to terminate pregnancy, 20 cases continued pregnancy, and three cases of them underwent surgery after birth. Conclusions Fetal cardiac structural abnormalities are associated with chromosomal diseases. CNV detection technology has improved the detection rate of chromosomal diseases in fetuses with abnormal heart structure.更多还原