摘要目的:探讨胎儿心血管系统畸形与染色体异常的相关性。方法:回顾性分析2013年1月至2018年8月在产前诊断中心就诊的72例胎儿心血管系统发育异常孕妇的临床资料。72例心血管系统发育异常胎儿均为单胎。最终结局为45例终止妊娠，6例孕妇失访，21例正常妊娠。结果:72例心血管异常胎儿中共检出异常核型22例(30.6%)，包括18-三体10例、13-三体3例、21-三体2例、性染色体嵌合1例和染色体结构异常6例。胎儿染色体非整倍体病例中，18-三体数量最多，占非整倍体核型66.7%(10/15)。所有病例中，单一心血管系统畸形29例，异常核型3例(10.3%)；心血管合并其他系统畸形43例，异常核型19例(44.2%)；后者异常核型率显著高于前者，差异有统计学意义( P＝0.003 5)。胎儿单一心血管系统畸形在孕24周以下8例，异常核型1例；孕24～28周17例，异常核型1例；大于孕28周4例，异常核型1例。胎儿心血管合并其他系统畸形在孕24周以下24例，异常核型11例；孕24～28周16例，异常核型7例；大于孕28周3例，异常核型1例。心血管分别合并泌尿生殖、颅脑、面颈部、骨骼四肢畸形异常核型检出率为100%(3/3)、71.4%(10/14)、58.8%(10/17)和52.9%(9/17)；而8例心血管合并胃肠道系统畸形病例中未检出异常核型。 结论:染色体数目或结构改变与胎儿心血管系统发育异常密切相关。

abstractsObjective:To explore the correlation between fetal cardiovascular malformations and chromosome abnormalities.Methods:Retrospective analysis was conducted for clinical data of 72 pregnant women with fetal cardiovascular system dysplasia from January 2013 to August 2018. And all 72 fetuses with abnormal cardiovascular system dysplasia were singletons with termination of pregnancy ( n=45), loss of follow-up ( n=6) and normal pregnancy ( n=21). Results:Twenty-two cases of abnormal karyotypes were detected in 72 patient samples with an abnormal rate of 30.6%(22/72), including 18-trisomy ( n=10), 13-trisomy ( n=3), 21-trisomy ( n=2), sex chromosome mosaicism ( n=1) and chromosomal structure abnormalities ( n=6). As for fetal chromosome aneuploidy, the number of 18-trisomy accounted for 66.7%(10/15). There were single cardiovascular malformations ( n=29), abnormal karyotypes ( n=3), cardiovascular with other system malformations ( n=43) and abnormal karyotypes ( n=19). The abnormal karyotypic rate of cardiovascular malformations with other systems was higher than that of single cardiovascular malformations (44.2% vs. 10.3%, P=0.0035). As for fetal single cardiovascular system malformations, the distributions of gestational weeks were as follows: <24 weeks ( n=8) & abnormal karyotype ( n=1); 24-28 weeks ( n=17) & abnormal karyotype ( n=1); >28 weeks ( n=4) & abnormal karyotype ( n=1). As for fetal cardiovascular with other systemic malformations, the gestational weeks were <24 weeks ( n=24) & abnormal karyotypes ( n=11); 24-28 weeks ( n=16) & abnormal karyotypes ( n=7); >28 weeks ( n=3) & abnormal karyotype ( n=1). The abnormal karyotypic detection rates of cardiovascular malformation associated with urogenital, craniocerebral, facial neck, skeletal & extremity abnormalities were 100%(3/3), 71.4%(10/14), 58.8%(10/17) and 52.9%(9/17) respectively. However, no abnormal karyotype was detected in 8 cardiovascular cases with concurrent gastrointestinal malformations. Conclusions:The number of chromosomes or structural changes is closely correlated with the abnormal development of fetal cardiovascular system.