妊娠11~13^(+6)周超声诊断胎儿单脐动脉及其与染色体异常的相关性

Ultrasound diagnosis of fetal single umbilical artery at 11~13^(+6)weeks of pregnancy and its correlation with chromosome abnormality

目的探讨早孕期产前超声诊断单脐动脉的可行性,分析其与胎儿染色体异常的关系。方法回顾性分析2017年4月至2019年4月重庆市妇幼保健院/重庆医科大学附属妇女儿童医院行妊娠11~13^(+6)周超声检查并诊断为单脐动脉的胎儿的一般临床资料、超声特征、染色体核型或微阵列分析结果及随访结果,根据超声筛查是否合并其他结构畸形,分为孤立型单脐动脉(iSUA)组和非孤立型单脐动脉(niSUA)组;采用t检验或χ2检验比较2组患者的一般临床资料的差异,采用χ2检验比较超声结果及染色体结果的组间差异。结果妊娠11~13^(+6)周超声诊断单脐动脉胎儿433例,排除后期复查否定单脐动脉诊断者(31例)及失访病例(42例),满足单脐动脉诊断者共360例,诊断准确率为92.1%(360/391)。获得染色体结果符合入组条件者共271例,其中iSUA组202例(74.54%),niSUA组69例(25.46%),2组一般临床资料比较差异无统计学意义(P>0.05)。染色体异常胎儿共13例,其中iSUA组4例(1.98%,4/202),niSUA组9例(13.04%,9/69);niSUA组包括:niSUA合并其他软指标异常组中染色体异常1例(5.88%,1/17)、niSUA合并单一畸形组中染色体异常4例(11.43%,4/35)、niSUA合并多发畸形组中染色体异常4例(23.53%,4/17),4组间染色体异常发生率差异具有统计学意义(χ2=19.99,P=0.002)。合并畸形部位主要集中在心血管系统、泌尿生殖系统和神经系统。结论早孕期产前超声诊断单脐动脉的准确率高。单脐动脉与胎儿的染色体异常具有相关性,iSUA的染色体异常比例较低,niSUA染色体异常发生率高,且合并畸形越多的胎儿染色体异常可能性越大。故早孕期发现单脐动脉时产前超声检查医师应格外警惕是否合并其他软指标异常及结构畸形。

Objective To explore the feasibility of prenatal ultrasound in the diagnosis of single umbilical artery(SUA)in early pregnancy and its relationship with fetal chromosome abnormality.Methods The general information,ultrasonic characteristics,chromosome karyotype or microarray analysis results,and follow-up data of SUA fetuses diagnosed by ultrasound examination at 11~13^(+6)weeks at Chongqing Health Center for Women and Children/Women and Children's Hospital of Chongqing Medical University from April 2017 to April 2019 were retrospectively analyzed.According to other ultrasound structural abnormalities combined,the patients were divided into either an isolated SUA group or a non isolated SUA group.Enumeration data between the two groups were compared by the t test,and measurement data were compared by theχ2 test.Results Among 433 cases diagnosed with SUA by ultrasound at 11~13^(+6)weeks,those who did not conform to the SUA diagnosis by later review(n=31)and those who were lost to follow-up(n=42)were excluded,and a total of 360 patients met the SUA diagnosis with a diagnostic accuracy of 92.1%(360/391).And 271 cases whose chromosome results were obtained were finally included.There were 202(74.54%)cases of isolated SUA and 69(25.46%)cases of non-isolated SUA;there was no statistical difference in general data between the two groups(P>0.05).There were 4 cases(1.98%,4/202)of isolated SUA and 9(13.04%,9/69)cases of non-isolated SUA in the 13 fetuses with chromosomal abnormalities,and the latter group contained 1(5.88%,1/17)case with other abnormal soft indicators,4(11.43%,4/35)cases with single malformation,and 4(23.53%,4/17)cases with multiple malformations;the differences between the 4 groups were statistically significant(χ2=19.99,P=0.002).Combined malformations were mainly malformations of the cardiovascular system,genitourinary system,and nervous system.Conclusion The accuracy of prenatal ultrasound in the diagnosis of single umbilical artery in early pregnancy is high.SUA is associated with chromosomal abnormalities in the fetus.The proportion of chromosomal abnormalities in isolated SUA is low.Non-solitary SUA chromosome abnormality has a high incidence,and the possibility of chromosome abnormality in fetuses with more complicated malformations is greater.When single umbilical artery is found by prenatal ultrasound in early pregnancy,doctors should be cautious of other soft indicators and malformation.