妊娠合并主动脉夹层的临床及遗传学分析  

Clinical and genetic analysis of pregnancy complicated with aortic dissection

作　　者：张可莹[1] 李小燕 刘旭霞 王月丽[3] 李同勋[4] 刘爱 张晓萍 ZHANG Keying;LI Xiaoyan;LIU Xuxia;WANG Yueli;LI Tongxun;LIU Ai;ZHANG Xiaoping(Department of Blood Transfusion,Beijing Obstetrics and Gynecology Hospital,Capital Medical University/Beijing Maternal and Child Health Care Hospital,Beijing 100026,China;Beijing Anzhen Hospital,Capital Medical University&Beijing Institute of Heart,Lung and Blood Vessel Diseases&Key Laboratory of Remodeling-related Cardiovascular Diseases of Ministry of Education,Beijing 100029,China;Department of Echocardiography,Beijing Anzhen Hospital,Capital Medical University,Beijing 100029,China;Coronary Heart Disease Surgery Center,Beijing Anzhen Hospital,Capital Medical University,Beijing 100029,China)

机构地区：[1]首都医科大学附属北京妇产医院/北京妇幼保健院输血科,北京100026 [2]首都医科大学附属北京安贞医院,北京市心肺血管疾病研究所,心血管重塑相关疾病教育部重点实验室,北京100029 [3]首都医科大学附属北京安贞医院超声心动二部,北京100029 [4]首都医科大学附属北京安贞医院冠心病外科中心一病区,北京100029

出　　处：《中国妇幼健康研究》2023年第10期70-74,共5页Chinese Journal of Woman and Child Health Research

基　　金：国家自然科学基金青年科学基金项目(81500365),北京市自然科学基金(7173257,7172040)。

摘　　要：目的对临床表型疑似马凡综合征的5例妊娠期女性进行基因检测,鉴定其致病突变基因,辅助临床诊断和监控妊娠合并急性主动脉夹层(AAD)的发展。方法分析2016年1月至2022年1月期间由外院转诊至北京安贞医院的5例妊娠合并AAD患者的临床资料。遗传学分析采用全外显子测序,利用一代测序对突变位点进行验证。结果5名体征疑似马凡综合征的患者在妊娠早期进行了全外显子测序。全外显子测序鉴定出患者存在FBN1基因的罕见变异(FBN1 c.T7754C;FBN1 c.T7465C;FBN1 c.G2638A;FBN1 c.C6169T;FBN1 c.A7048T)。患者年龄为27~33岁,AAD的发病孕周为8~38周。5例患者均接受了主动脉置换手术,恢复佳。2例提前终止妊娠,3例新生儿发育健康。结论妊娠合并AAD发病凶险,针对临床疑似马凡综合征的孕妇,需要提前进行基因诊断,以便能早期识别致病原因,为早期预防和诊疗提供重要依据。Objective Genetic testing was performed to identify the causative mutant genes in 5 pregnant women with a clinical phenotype suspected to be Marfan syndrome,to assist in the clinical diagnosis and monitor the development of acute aortic dissection(AAD)in pregnancy.Methods Clinical data of 5 patients with AAD in pregnancy combined who were referred to Beijing Anzhen Hospital from outside hospitals between January 2016 and January 2022 were analysed.Using whole-exome sequencing(WES)to identify the of diseasing causing mutation.Using Sanger sequencing to verify the mutation variant.Results 5 patients with signs suspicious for Marfan syndrome underwent WES early in pregnancy.WES identified the presence of rare variants in the FBN1 gene in the patients(FBN1 c.T7754C;FBN1 c.T7465C;FBN1 c.G2638A;FBN1 c.C6169T;FBN1 c.A7048T).The age of the patients ranged from 27 to 33 years,and the gestational weeks of onset of AAD ranged from 8 to 38 weeks.All 5 patients underwent aortic replacement surgery and recovered well.Two patients terminated their pregnancies,while three patients had healthy offspring.Conclusion Pregnancy with AAD is dangerous.For pregnant women with clinically suspected Marfan syndrome,genetic diagnosis is required in advance to identify the cause of the disease early and provide an important basis for the early prevention and diagnosis and treatment of pregnancy with AAD.

关 键 词：妊娠 主动脉夹层 妊娠结局 马凡综合征 FBN1基因 全外显子测序 基因检测 

分 类 号：R173[医药卫生—妇幼卫生保健]