胎儿超声异常与染色体异常的关联性研究

Investigation of relevance between fetal ultrasound abnormality and chromosome abnormality

目的常规胎儿超声筛查提示胎儿结构畸形和软指标异常者，行羊水细胞染色体核型分析，研究胎儿结构畸形和超声软指标与染色体异常的相关性。方法选取2013年7月～2015年4月于宁夏医科大学总医院就诊的孕期Ⅲ级B超提示胎儿异常的患者258例，对孕妇进行羊水细胞染色体核型分析。结果258例超声筛查异常者，单项软指标发生率为39．53％，多项超声软指标发生率为16．67％，超声结构畸形及合并存在者发生率为41．09％；进一步行羊水细胞核型分析，其中有12例染色体异常，百分比为4．65％。结论超声软指标及结构畸形提示胎儿染色体异常风险增加．特别是长骨短小、侧脑室增宽及单脐动脉时应积极进行各个系统的检查并及时进行染色体核型分析。

Objective To investigate the relevance between fetal structural malformation and ultrasound soft index and chromosome abnormality by amniotic fluid cells karyotype analysis among patients with fetal structural malformation and soft index abnormality indicated by conventional fetal ultrasound screening. Methods 258 patients with grade Ⅲ fetal abnormality indicated by B ultrasonic treated in general hospital of Ningxia medical university from July 2013 to April 2015 were selected, and amniotic fluid cells karyotype analysis were conducted. Results Among the 258 patients with ultrasound abnormality, the ineidelace rate of single soft index was 39.53%, the rate of multiple soft indices was 16,67%, and the rate of ultrasound structural malformation and combined abnormality was 41.09%. According to the amniotic fluid cells karyotype analysis,12 of these patients had chromosome abnormality（4.65%）. Conclusion Ultrasound soft index and structural malformation indicate increased risk of fetal chromosome abnormality. Especially for patients with long bone short, lateral ventriculomegaly, and single umbilical artery, comprehensive examination and karyotype analysis should be taken positively.