早期产前筛查中胎儿颈项透明层厚度与绒毛染色体异常的相关性分析

目的探究早期产前筛查中胎儿颈项透明层(nuchal translucency,NT)厚度与绒毛染色体异常的相关性。方法选择2013年10月至2016年10月于恩施州中心医院行产前超声检查的孕11~13周单胎孕妇、且胎儿NT厚度≥2.5 mm者150例,对所有孕妇进行胎盘绒毛染色体核型分析,并根据不同NT厚度分析出现绒毛染色体异常的差异。结果胎儿NT厚度越高,则绒毛染色体异常比例越高(P0.05)。Logistic回归分析,NT厚度测量值与胎儿染色体异常发生率存在正相关关系,胎儿发生染色体异常的概率随NT厚度测量值的上升而增加。NT增厚胎儿中有30例绒毛染色体异常,其中21三体所占比例最高(43.33%,13/30);120例正常绒毛染色体核型中出现4例多态性;4例核型为嵌合体,嵌合率为2.67%(4/150)。结论早期产前运用超声检查胎儿NT厚度可作为筛查胎儿染色体异常的重要手段,NT厚度与绒毛染色体异常发生率呈正相关关系,胎儿NT厚度≥3 mm时应进行介入性检查。

Correlation analysis of the thickness of fetal nuchal translucency and chromosome abnormality in early prenatal screening

Objective To explore the relationship between fetal nuchal translucency (NT) thickness and chromosome abnormality in early prenatal screening.Methods 150 cases of singleton pregnant women with gestational age of 11~13 weeks and fetal NT thickness≥ 2.5 mm examined by prenatal ultrasound in Enshi Central Hospital from October 2013 to October 2016 were selected.All the pregnant women were subjected to placental villi chromosome karyotype analysis,and according to different NT thickness analysis of villi chromosome abnormalities.Results The higher the fetal NT thickness,the higher the percentage of villi chromosome abnormalities(P<0.05).Logistic regression analysis showed that,there was a positive correlation between the NT thickness measurement and the incidence of fetal chromosome abnormalities.The probability of chromosome abnormalities in fetus increased with the increase of NT thickness.There were 30 cases of villus chromosome abnormality in all NT thickened fetuses,in which 21 trisomy syndrome accounted for the highest proportion;and 4 cases of polymorphism in 120 cases of normal villi chromosome karyotype.The chimerism rate was 2.67 %(4/150).Conclusion The thickness of fetus NT can be used as an important method to screen fetal chromosome abnormality.The thickness of NT is positively correlated with the incidence of chorionic chromosome abnormality.Interventional examination should be performed when the fetus has NT≥3mm.