中文摘要：

目的探讨早中孕期胎儿的颈项透明层增厚与四肢畸形之间的相关性。方法回顾性的分析我科2010年9月至2015年9月期间早中孕期间筛查出的颈项透明层增厚病例312例,追踪胎儿的四肢畸形情况,分析颈项透明层增厚与胎儿四肢畸形之间的相关性以及四肢畸形的类型分布。结果以NT厚度2.5mm为界,NT增厚的胎儿四肢畸形的发生率为9.3%（29/312）;同时颈项透明层增厚的胎儿四肢畸形的发生比率与颈项透明层的厚度呈正相关性,且常见的四肢畸形为四肢短小。结论颈项透明层厚度增厚与胎儿的四肢畸形之间有着明显的相关性,且增厚程度越大的胎儿出现四肢畸形的可能性就越高,早中孕期胎儿的NT增厚时要进行有针对性的四肢超声检查同时注重对四肢短小畸形的排查。

英文摘要：

Objective To discussion the relationship between increased thickness of fetal nuchal translucency and limb deformities in early- mid trimester. Methods 243 cases of increased thickness of fetal nuchal translucency retrospectively in our department from September 2010 to September 2015 were selected,the fetal limb deformities were followed up and the relationship between increased thivkness of fetal nuchal translucency and limb deformities and the type distribution of limb deformity were investigated. Results Set 2.5mm of NT thickness as the line,the incidence of limb deformities in increased thivkness of fetal nuchal translucency is 9.3%（ 29 /312）; There was a positive correlation between NT thickness and the incidence of limb deformities in increased thickness of fetal nuchal translucency and the common limb deformities are limbs short. Conclusion There is a significant correlation between NT thickness and the incidence of limb deformities in increased thickness of fetal nuchal translucency,the greater the degree of thickening,the higher the possibility of fetal malformation of limbs. In addition,when NT thickness increased,fetal should to be targeted ultrasound examination of limbs,and focused on the short limbs deformity.