胎儿颈部淋巴水囊瘤与染色体异常和解剖结构畸形的关系:70例分析  

Correlation of fetal cervical cystic hygroma with chromosomal and structural abnormalities: analysis of 70 cases

作　　者：王艳艳 原婷 王玮 张婷[1] 王春宝[2] 贺芳[3] 李雪兰[1] 韩蓁[1] Wang Yanyan;Yuan Ting;Wang Wei;Zhang Ting;Wang Chunbao;He fang;Li Xuelan;HanZhen(Department of Obstetrics and Gynecology,the First Affiliated Hospital of Xi'an Jiao Tong University,Xi'an 710061,China;Department of Pathology,the First Affiliated Hospital of Xi'an Jiao Tong University,Xi'an 710061,China;Center for Translation Medicine,the First Affiliated Hospital of Xi'an Jiao Tong University,Xi'an 710061,China)

机构地区：[1]西安交通大学第一附属医院妇产科,西安710061 [2]西安交通大学第一附属医院病理科,西安710061 [3]西安交通大学第一附属医院转化医学中心,西安710061

出　　处：《中华围产医学杂志》2022年第11期859-862,共4页Chinese Journal of Perinatal Medicine

基　　金：陕西省重点研发计划(2020SF-302)。

摘　　要：目的总结胎儿颈部淋巴水囊瘤(cervical cystic hygroma,CCH)与染色体异常和解剖结构异常的关系及其预后。方法回顾性纳入2015年7月至2021年12月在西安交通大学第一附属医院行产前超声检查并检出胎儿CCH的病例70例,按照是否合并解剖结构异常或其他异常分为非孤立性CCH和孤立性CCH。分析CCH及其检出孕周与染色体异常和解剖结构异常的关系,总结预后。采用χ^(2)检验进行统计学分析。结果70例CCH中,孤立性CCH占49%(34/70),非孤立性CCH占51%(36/70)[其中合并心脏结构异常8例(22%,8/36)、前腹壁异常10例(28%,10/36)、全身水肿和/或胸腔积液16例(44%,16/36)、颅脑异常及前脑无裂畸形+心脏结构异常各1例(3%,1/36)]。44例接受染色体检查者中染色体异常18例,其中18-三体6例,21-三体、13-三体、45,XO和染色体片段重复/缺失各3例。非孤立性CCH组与孤立性CCH组比较,染色体异常的检出率升高[59%(13/22)与23%(5/22),χ^(2)=6.02,P=0.014],但高龄孕妇构成比及检出CCH孕周差异均无统计学意义(P值均>0.05)。孕14~27周+6检出CCH的病例中孤立性且染色体正常的比例高于孕11~13周+6检出CCH者[62%(13/21)与17%(4/23),χ^(2)=7.39,P=0.007]。染色体正常且孤立性CCH胎儿一共17例,活产出生12例。这12例中的1例生后9个月颈部仍有直径3 cm囊性包块;另11例出生时颈部包块消失但随访5个月~6岁发现1例因新生儿水肿住院治疗1周但5月龄夭折,另1例生后3 d发现肛门闭锁而行手术治疗,其余9例未见异常。结论非孤立性CCH合并染色体异常的风险更高。发现孕周较晚的CCH染色体正常且为孤立性的比例较高,生后有较高的健康存活率。Objective To analyze the correlation of fetal cervical cystic hygroma(CCH)with chromosomal and structural abnormalities and to assess the prognosis of CCH.Methods This study retrospectively enrolled 70 fetuses with CCH diagnosed by prenatal ultrasound in the First Affiliated Hospital of Xi'an Jiao Tong University from July 2015,to December 2021.According to whether complicated by structural malformations or other anomalies,all the subjects were divided into the non-isolated and isolated CCH groups.The correlation of CCH and the gestational age at detection with chromosomal and structural abnormalities were analyzed and the prognosis of the cases were summarized using Chi-square test.Results There were 34 isolated CCH(34/70,49%)and 36 non-isolated CCH(36/70,51%)among the 70 cases.In the non-isolated CCH group,there were eight cases(22%,8/36)with abnormal heart structure,ten(28%,10/36)with abnormal anterior abdominal wall,16(44%,16/36)with systemic edema and/or pleural effusion,one(3%,1/36)with craniocerebral abnormalities and one with holoprosencephaly and cardiac structural abnormalities.Eighteen out of 44 cases undergoing chromosome testing had chromosomal abnormalities,which were trisomy-18(n=6),trisomy-21(n=3),trisomy-13(n=3),45,XO(n=3),and chromosome segment duplication or deletion(n=3).The detection rate of chromosome abnormality was higher in non-isolated CCH group comparing with isolated CCH group[59%(13/22)vs 23%(5/22),χ^(2)=6.02,P=0.014].There was no significant difference in the gestational age at the detection of CCH or proportion of women of advanced maternal age between the isolated and non-isolated CCH groups(both P>0.05).The ratios of isolated CCH cases with normal chromosome detected at the gestational weeks of 14-27+6 was higher than those detected at 11-13+6 weeks[62%(13/21)vs 17%(4/23),χ^(2)=7.39,P=0.001].Out of the 17 cases with isolated CCH and normal chromosomes,12 were live births.One of the 12 cases still had a cystic mass with a diameter of 3 cm in the neck nine months after birth,and t

关 键 词：淋巴管瘤 囊性 头颈部肿瘤 染色体畸变 超声检查 产前 

分 类 号：R714.5[医药卫生—妇产科学]