胎儿心血管畸形与染色体异常的关系

Q4 Medicine

中华小儿外科杂志 Pub Date : 2020-03-15 DOI:10.3760/CMA.J.ISSN.0253-3006.2020.03.006

Xiaolei Xie, W. Tan, Fuguang Li, Suhuan Tang

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引用次数: 0

摘要

目的探讨胎儿心血管畸形与染色体异常的关系。方法回顾性分析2013年1月至2018年8月72例胎儿心血管系统发育不良孕妇的临床资料。72例异常心血管系统发育不良胎儿均为单胎，终止妊娠(n=45)、失访(n=6)、正常妊娠(n=21)。结果72例患者标本中检出异常核型22例，异常率为30.6%(22/72)，其中18-三体(n=10)、13-三体(n=3)、21-三体(n=2)、性染色体嵌合(n=1)、染色体结构异常(n=6)。胎儿染色体非整倍体，18-三体占66.7%(10/15)。其中单一心血管畸形29例，核型异常3例，心血管合并其他系统畸形43例，核型异常19例。合并其他系统的心血管畸形的核型异常率高于单一心血管畸形(44.2% vs. 10.3%， P=0.0035)。胎儿单一心血管系统畸形的孕周分布为:28周(n=4)，核型异常(n=1)。胎儿心血管合并其他全身性畸形，孕周28周(n=3)，核型异常(n=1)。心血管畸形合并泌尿生殖、颅脑、面颈、骨骼和四肢异常的异常核型检出率分别为100%(3/3)、71.4%(10/14)、58.8%(10/17)和52.9%(9/17)。8例心血管合并胃肠道畸形患者未见异常核型。结论染色体数目或结构变化与胎儿心血管系统发育异常密切相关。关键词:胎儿;心血管异常;染色体;核型分析

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Correlation between fetal cardiovascular malformations and chromosome abnormalities

Objective 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: 28 weeks (n=4) & abnormal karyotype (n=1). As for fetal cardiovascular with other systemic malformations, the gestational weeks were 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. Key words: Fetus; Cardiovascular abnormalities; Chromosomes; Karyotyping

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来源期刊

中华小儿外科杂志 Medicine-Pediatrics, Perinatology and Child Health

CiteScore

0.40

自引率

0.00%

发文量

8707

期刊介绍： Chinese Journal of Pediatric Surgery is an academic journal sponsored by the Chinese Medical Association. It mainly publishes original research papers, reviews and comments in this field. The journal was founded in 1980 and is included in well-known databases such as Peking University Journal (Chinese Journal of Humanities and Social Sciences) and CSCD Chinese Science Citation Database Source Journal (including extended version). It is one of the national key academic journals under the supervision of the China Association for Science and Technology. Chinese Journal of Pediatric Surgery enjoys a high reputation and influence in the academic community. The articles published in this journal have a high academic level and practical value, providing readers with a large number of practical cases and industry information, and have received widespread attention and citations from readers.