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目的探讨孕早期测量胎儿颈项透明层厚度(NT)与孕中期母体血清AFP和free-β-HCG检测在筛查唐氏综合征(DS)中的作用。方法采用回顾性分析,随机选取我院2014年5月-2016年2月收治的2205例孕妇的临床资料进行研究。NT的测定利用超声检测,然后进行母体血清AFP和free-β-HCG检测,并利用DS产前筛查分析系统软件评估孕妇DS风险。并对孕妇实施羊膜穿刺检查羊水细胞染色体核型检查。结果孕早期查出84例高危NT,阳性率为3.8%;84例高危NT孕妇均参加孕中期血清学检测,孕中期检出DS高危132例,阳性率为6.0%;单项超声检测NT厚度和单项母体血清学检测发生率之间没有明显的差异,P>0.05,无统计学意义;联合筛查胎儿异常、及DS特异性、假阳性率、假阴性率明显高于单项筛查,P﹤0.05,有统计学意义。结论 NT和血清学联合检测能够提高筛查唐氏综合征诊断有效性和针对性,但是两种检测方法不能相互取代。
Objective To investigate the effect of measuring the thickness of the fetal neck transparent layer (NT) in early pregnancy and the detection of AFP and free-β-HCG in the second trimester during the screening of Down’s syndrome (DS). Methods The clinical data of 2205 pregnant women who were admitted to our hospital from May 2014 to February 2016 were retrospectively analyzed. NT was measured by ultrasound followed by detection of maternal serum AFP and free-β-HCG, and DS prenatal screening analysis system software was used to assess DS risk in pregnant women. And the implementation of amniocentesis in pregnant women to check amniotic fluid cell chromosome karyotype. Results Eighty-four cases of high-risk NT were found in early pregnancy, with a positive rate of 3.8%. 84 pregnant women with high-risk NT both participated in the second trimester serological test. 132 cases were detected with high risk of DS in the second trimester, the positive rate was 6.0% There was no significant difference between the single maternal serological test rates, P> 0.05, no statistical significance; combined screening of fetal abnormalities, DS specificity, false positive rate, false negative rate was significantly higher than the single screening, P < 0.05, with statistical significance. Conclusion Combined detection of NT and serology can improve the effectiveness and specificity of screening Down’s syndrome, but the two methods can not replace each other.