超声检测胎儿颈项透明层厚度与染色体异常的相关性研究

目的探讨胎儿颈项透明层(nuchal translucency,NT)厚度与染色体异常之间的关系。方法选取2015年10月至2019年11月在内蒙古自治区妇幼保健院因超声检测NT值异常而进行羊水染色体核型分析的孕妇217例,并对其NT值增厚的情况及羊水染色体核型检测结果进行整理与分析。结果217例NT值增厚(NT≥2.5 mm)的孕妇中,检出染色体核型异常48例(22.12%)。其中,染色体数目异常42例,染色体结构异常4例及嵌合体2例。在NT值分别为2.5~<3.0 mm、3.0~<4.0 mm、4.0~<5.0 mm、5.0~<6.0 mm、>6.0 mm 5个组中,染色体异常率分别为15.38%、19.47%、22.45%、33.33%、42.86%,差异无统计学意义(P>0.05)。单纯NT值增厚孕妇130例,检出染色体核型异常18例(13.85%);NT值异常合并其他指标异常者87例,检出染色体异常30例,染色体异常发生率为34.48%,明显高于单纯NT值增厚病例组,差异有统计学意义(P<0.05)。结论NT值增厚与胎儿染色体异常密切相关,NT值增厚程度越大,染色体核型异常检出率越高;NT值增厚合并其他超声指标异常较单纯NT值增厚胎儿染色体异常检出率更高。NT值增厚对胎儿非整倍体的检出有重要的临床价值。

Study on correlation between the thickness of fetal nuchal translucency detected by ultrasound and chromosomal abnormalities

Objective To investigate the relationship between the thickness of fetal nuchal translucency(NT)and chromosomal abnormalities.Methods 217 pregnant women who underwent chromosomal karyotype analysis of amniotic fluid due to detection of abnormal NT value in Inner Mongolia Maternal and Child Care Hospital from October 2015 to November 2019 were selected.The NT value thickening and amniotic fluid karyotype detection results were sorted and analyzed.Results Among the 217 pregnant women with increased NT value(NT≥2.5 mm),48 cases(22.12%)had abnormal karyotypes.Among them,42 had abnormal chromosome number,4 had abnormal chromosome structure,and 2 had chimera.In five groups with NT values of 2.5 to 3.0 mm,3.0 to 4.0 mm,4.0 to 5.0 mm,5.0 to 6.0 mm,and>6.0 mm,the chromosomal abnormality rates were 15.38%,19.47%,22.45%,33.33%,42.86%,the differences were not statistically significant(P>0.05).130 pregnant women with simple NT value thickening,18 cases(13.85%)with abnormal chromosome karyotype were detected;87 cases with abnormal NT values combined with other abnormal indicators,30 cases(34.48%)were detected with chromosomal abnormalities,which was significantly higher than the case of pure NT thickening cases(P<0.05).Conclusion NT value thickening is closely related to fetal chromosomal abnormalities.The greater the NT value thickening,the higher the detection rate of karyotype abnormalities;NT value thickening combined with other ultrasound index abnormalities has higher detection rate of karyotype abnormalities than pure NT value thickening.The increased NT value has important clinical value for the detection of fetal aneuploidy.