超声诊断胎儿单脐动脉合并畸形及其与染色体异常的关系

Fetal Single Umbilical Artery Combined with Malformation Diagnosed by Ultrasound and Its Relationship with Chromosome Abnormalities

目的探讨胎儿单脐动脉(SUA)合并畸形及其与染色体异常的关系,为产前咨询和临床处理提供依据。资料与方法回顾性分析667例SUA胎儿的超声特征,以及其中行染色体检查的413例胎儿的染色体核型结果,比较不同类型SUA与染色体异常的关系。结果 667例SUA胎儿中,合并畸形272例,畸形发生率为40.8%,最常见的是心血管畸形(21.6%),其次依次为泌尿畸形(9.0%)、颅脑畸形(6.8%)及四肢骨骼畸形(5.6%)。根据胎儿合并其他超声异常情况,将413例行染色体检查的SUA胎儿分为4组:孤立性SUA组299例、合并其他超声软指标组30例、合并单一畸形组41例及合并多发畸形组43例,共检出染色体异常21例(5.1%)。4组染色体异常检出率差异有统计学意义(P<0.05),其中合并多发畸形组、合并单一畸形组及合并超声软指标组染色体异常率均显著高于孤立性SUA组,差异有统计学意义(P<0.05)。结论 SUA胎儿合并畸形率高,产前超声发现SUA时需全面仔细扫查。当合并畸形或其他超声软指标时,染色体异常率明显增高。孤立性SUA染色体异常率较低,但仍需警惕。

Purpose To explore the fetal single umbilical artery (SUA) combined with malformation and its relationship with chromosomal abnormalities, thus to provide evidence for prenatal consultation and clinical management. Materials and Methods The ultrasound characteristics of 667 SUA fetuses and the karyotype results of the 413 fetuses undergoing chromosome examination were retrospectively analyzed. The relationship between different types of SUA and chromosomal abnormalities was analyzed. Results Among the 667 SUA fetuses, 272 cases had malformation, with the incidence of malformation being 40.8%. The most common was cardiovascular malformation (21.6%), followed by urinary malformation (9.0%), craniocerebral malformation (6.8%) and limb skeletal malformation (5.6%). According to other combined ultrasound abnormalities, the 413 SUA fetuses were divided into four groups: isolated SUA group (299 cases), combined with other ultrasound soft indicators group (30 cases), combined single malformation group (41 cases) and combined multiple malformation group (43 cases). A total of 21 cases were detected with chromosomal abnormalities (5.1%). There were significant differences in chromosome abnormality detection rates among the four groups (P<0.05). The rate of chromosomal abnormality in the combined multiple malformation group, combined single malformation group and ultrasound soft indicators group was significantly higher than that in the isolated SUA group (P<0.05). Conclusion The combined malformation rate is high for SUA fetuses. The fetal systems should be carefully examined when SUA is found in prenatal ultrasound. When combined with malformations or other ultrasound soft indicators, the chromosome abnormality rate is significantly increased. Vigilance should be heightened although the chromosome abnormality rate of isolated SUA is low.