单脐动脉与胎儿染色体异常关系的研究

The relationship of single umbilical artery and fetal karyotype

目的探讨彩色多普勒超声发现单脐动脉与胎儿染色体异常的关系。方法回顾性分析54例彩色多普勒超声发现单脐动脉而孕妇要求行胎儿染色体检查的病例,抽取的羊水或脐血进行培养,通过G显带,分析胎儿染色体核型。结果54例单脐动脉中,有52例是单纯的单脐动脉,2例合并B超发现胎儿其它结构畸形。而52例单纯的单脐动脉畸形的胎儿行染色体核型分析均未见核型异常,2例合并其它结构畸形的胎儿,1例为21-三体,另外一例未见核型异常。结论单纯的单脐动脉不能很好地预示胎儿染色体异常,而单脐动脉合并其它结构畸形时,其预示胎儿染色体异常的作用大大提高。因此当发现单脐动脉时,我们须进一步观察胎儿有无其它结构的畸形再决定是否需要羊膜腔穿刺或者脐带血穿刺。

Objective： To study the relationship of single umbilical artery found by ultrasound and fetal karyotype. Methods： Retrospectively analyzed 54 cases of single umbilical artery pregnant women found by ultrasound, who demanded to perform chromosome analysis through arnniotic fluid or umbilical blood. Results： Among the 54 fetuses with single umbilical artery, 52 fetuses had single umbilical artery as an isolated finding, and 2 fetuses had additional abnormalities. Except of one Down＇ s syndrome fetus with singe umbilical artery of the additional abnormalities was found, chromosomes of others 53 fetuses were normal.. Conclusion： The finding of an isolated single umbilical artery is no evidence of increased risk of chromosomal abnormalities. And it should prompt the sonographer to search for fetal defects and if these are found, the risk for chromosomal abnormalities is increased. And then, we should make a decision to whether need to perform invasive prenatal diagnosis.