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目的探讨胎儿颈项透明层(NT)厚度与染色体异常的关系。方法选取2015年10月~2016年9月在首都医科大学附属北京妇产医院行羊水染色体核型分析的4208例孕妇,均在本院或外院经超声检查胎儿NT厚度。分析胎儿NT厚度与胎儿染色体异常的发生情况。结果 4208例行羊水核型分析的病例中,NT增厚胎儿(NT≥2.5mm)218例,发生率为5.18%,其中染色体正常170例,染色体异常48例,异常率22.02%,明显高于无NT增厚胎儿(3990例)中染色体异常(81例)的检出率2.03%,两者比较差异有统计学意义(P<0.05)。此外,胎儿NT增厚组染色体异常类型中,以数目异常比例最高(81.25%)。胎儿NT≥5.0mm染色体异常的发生率明显升高。结论胎儿NT增厚在染色体异常早期筛查中有重要意义,尤其是对于染色体数目异常有较好的预测作用。
Objective To investigate the relationship between the thickness of fetal transparent neck (NT) and chromosomal abnormalities. Methods 4208 pregnant women with amniotic fluid karyotype analysis at Beijing Maternity Hospital Affiliated to Capital University of Medical Sciences from October 2015 to September 2016 were enrolled in this study. Analysis of fetal NT thickness and fetal chromosomal abnormalities occurred. Results Of 4208 cases of amniotic fluid karyotype analysis, 218 cases of NT thickened fetus (NT≥2.5mm) had a prevalence of 5.18%, of which 170 were normal chromosomes and 48 were chromosomal abnormalities with an abnormal rate of 22.02% The detection rate of chromosomal abnormalities (81 cases) in non-NT thickened fetus (3990 cases) was 2.03%, the difference was statistically significant (P <0.05). In addition, the fetus NT thickening group chromosomal abnormalities, the highest number of abnormalities (81.25%). Fetal NT ≥ 5.0mm chromosomal abnormalities significantly increased the incidence. Conclusion Fetal NT thickening is important in early screening of chromosomal abnormalities, especially for the prediction of chromosome abnormalities.