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目的通过超声检测胎儿鼻前软组织厚度(PT),探讨鼻前软组织厚度与唐氏综合征(DS)的关系,建立超声软指标PT中位倍数(MoM)值,明确PT筛查唐氏综合征的临床价值。方法对2012年6月—2014年6月期间在温州市中心医院超声检查的孕16~25周的正常胎儿及DS胎儿进行PT测量,组间比较采用t检验或Wilcoxon秩和检验,并行Spearman线性相关分析,采用二次回归模型计算2组MoM(PT)值,并建立风险评估模型,观察敏感度、特异度、阳性预测值、阴性预测值、阳性似然比、阴性似然比指标。结果正常组PT平均值为(3.51±0.91)mm,DS组PT平均值为(5.16±0.79)mm,差异有统计学意义(t=12.23,P<0.05);正常组胎儿PT随孕周增加而增厚,正常胎儿PT的MoM值为1.010,DS胎儿PT的MoM值为1.371。PT为单一指标筛查DS,以5%假阳性率,筛查唐氏综合征胎儿敏感度为58%,阳性预测值为0.46,阴性预测值为0.97,阳性似然比为11.63,阴性似然比为0.44;PT联合年龄高风险筛查DS,以5%假阳性率,敏感度提高到75%,阳性预测值为0.52,阴性预测值为0.98,阳性似然比为14.94,阴性似然比为0.26。结论鼻前软组织厚度是孕中期筛查唐氏综合征有效的遗传学超声软指标,唐氏综合征胎儿鼻前软组织厚度较正常胎儿厚。鼻前软组织厚度联合年龄高风险筛查唐氏综合征可以提高筛查敏感度,风险截断值达1/250,应建议行侵入性检查。
Objective To investigate the relationship between prenatal soft tissue thickness and Down Syndrome (DS) by ultrasonography and to establish the value of PT of Moment (PT), to identify Down’s Syndrome The clinical value. Methods The PT and PT fetuses of normal fetuses and DS fetuses between 16 and 25 weeks of gestation from June 2012 to June 2014 in Wenzhou Central Hospital were examined by t test or Wilcoxon rank sum test and Spearman linear Correlation analysis, two groups of MoM (PT) values were calculated by quadratic regression model, and risk assessment model was established to observe the sensitivity, specificity, positive predictive value, negative predictive value, positive likelihood ratio, negative likelihood ratio indicators. Results The average PT of the normal group was (3.51 ± 0.91) mm, the average PT of the DS group was (5.16 ± 0.79) mm, the difference was statistically significant (t = 12.23, P <0.05) Thickened, the normal fetus PT MoM value of 1.010, DS fetus PT MoM value of 1.371. PT was a single indicator screening DS, with a 5% false positive rate, fetal screening sensitivity of Down syndrome was 58%, positive predictive value was 0.46, negative predictive value was 0.97, positive likelihood ratio was 11.63, negative likelihood The odds ratio was 0.44. PT combined age-high risk screening DS, with a 5% false positive rate, increased the sensitivity to 75%, the positive predictive value was 0.52, the negative predictive value was 0.98, the positive likelihood ratio was 14.94, Is 0.26. Conclusions The thickness of the nasal soft tissue is the effective genetic soft index for the screening of Down’s syndrome in the second trimester. The thickness of the nasal soft tissue in the fetus of Down’s syndrome is thicker than the normal fetus. Nasal soft tissue thickness combined with age-old screening for Down’s syndrome can increase screening sensitivity with a cut-off risk of ½50. An invasive procedure should be recommended.