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目的探讨超声检查胎儿颈项透明层(nuchal translucency,NT)增厚与胎儿染色体异常的关系。方法参照英国胎儿医学基金会(FMF)的关于胎儿NT厚度的测量标准,对孕11~13周+6孕妇胎儿进行超声NT标准化测量,对NT增厚(NT≥2.5 mm)胎儿行染色体核型分析。结果孕11~13周+6成功测量胎儿NT厚度5 543例,NT≥2.5 mm者82例,阳性检出率1.48%;82例NT增厚胎儿的NT测量值为2.6~12.3 mm,平均(4.5±2.3)mm。82例NT增厚胎儿检出染色体异常14例,异常检出率17.1%;其中结构异常2例,染色体数目异常12例;发生率最高染色体核型为21三体(7例,50.0%),三体征总共检出10例(71.4%)。不同胎儿性别、孕妇分娩年龄、NT厚度的胎儿染色体异常检出率之间存在统计学差异(P<0.05)。NT增厚胎儿NT测量值与胎儿染色体异常发生率呈明显的正相关关系(r=0.387,P<0.001)。结论在妊娠早期通过超声检查胎儿NT厚度可以作为胎儿染色体异常介入性产前诊断的重要超声筛查指标。
Objective To investigate the relationship between ultrasound-induced fetal nuchal translucency (NT) thickened and fetal chromosomal abnormalities. Methods According to the British Fetal Medical Foundation (FMF) measurement standard on fetal NT thickness, standardized ultrasound NT was performed in fetuses of 11 ~ 13 weeks of gestation and 6 maternal pregnancies. Chromosomal karyotypes of fetuses with NT thickening (NT≥2.5 mm) analysis. Results Pregnancy 11 ~ 13 weeks +6 Fetal NT thickness of 5 543 cases were measured, 82 cases of NT ≥ 2.5 mm, the positive detection rate of 1.48%; 82 cases of NT thickened fetus NT measurement of 2.6 ~ 12.3 mm, the average 4.5 ± 2.3) mm. In 82 cases of NT thickened fetus, 14 cases were detected chromosomal abnormalities and the rate of abnormality was 17.1%. Among them, 2 cases were abnormal in structure and 12 cases were abnormal in chromosome number. The highest karyotype was 21 trisomy (7 cases, 50.0%), A total of three trismus were detected in 10 cases (71.4%). There was a statistically significant difference in the detection rate of fetal chromosomal abnormalities among different fetal sexes, gestational age of pregnant women and NT thickness (P <0.05). There was a clear positive correlation between the NT value of fetuses with NT thickened and the incidence of fetal chromosomal abnormalities (r = 0.387, P <0.001). Conclusion The fetal NT thickness can be used as an important ultrasound screening index for interventional prenatal diagnosis of fetal chromosomal abnormalities in early pregnancy.