【摘要】 目的探讨孕早期采用超声检测胎儿颈部透明软组织(NT)厚度联合母亲血清妊娠相关血浆蛋白A(PAPP-A)、游离β-人绒毛膜促性腺激素(Fβ-hCG)水平检测在诊断胎儿唐氏综合征中的价值。方法对2 823例孕周在10~14周的单胎孕妇,采用超声检测胎儿NT厚度,生化检测母亲血清PAPP-A、Fβ-hCG水平;对胎儿NT厚度,母亲血清PAPP-A、Fβ-hCG水平异常者进一步行产前染色体检查。将2 823例孕妇按检测结果分为阴性组(胎儿唐氏综合征检测阴性)、阳性组(胎儿唐氏综合征检测阳性)与唐氏综合征组(染色体检查确诊胎儿患唐氏综合征),比较3组胎儿NT厚度,母亲血清PAPP-A、Fβ-hCG水平的差异。结果 2 823例孕妇中,胎儿唐氏综合征阳性31例,阳性率为1.10%;31例阳性胎儿确诊唐氏综合征2例,检出率为0.71‰(2/2 823)。与阴性组、阳性组比较,唐氏综合征组孕妇血清PAPP-A水平显著降低(P<0.05)、Fβ-hCG水平显著升高(P<0.05),胎儿NT厚度明显增厚(P<0.05)。结论在孕早期对孕妇采用超声检测胎儿NT厚度联合母亲血清PPAP-A、Fβ-hCG水平检测对诊断胎儿唐氏综合征有着积极的意义,可以减少因疾病给患者带来的身体和心理上的伤害。更多还原

【Abstract】 Objective To investigate the value of combination of ultrasonic measurement of fetal nuchal translucency(NT)thickness and determination of maternal serum pregnancy-associated plasma protein-A(PPAP-A)and freeβhuman chorionic gonadotrophin(Fβ-hCG)levels in early pregnancy in the diagnosis of Down’s syndrome.Methods Fetal NT thickness was measured by ultrasound and maternal serum PAPP-A and Fβ-hCG levels were determined at 10-14 weeks of gestation in 2 823 singleton pregnant women.Furthermore,prenatal chromosome examination was performed in pregnant women with abnormalities in fetal NT thickness and maternal serum PAPP-A and Fβ-hCG levels.According to the results,these pregnant women were divided into negative group(negative for Down’s syndrome),positive group(positive for Down’s syndrome)and Down’s syndrome group(confirmed by chromosome examination).Fetal NT thickness and maternal serum PAPP-A and Fβ-hCG levels were compared among the three groups.Results Among the 2 823 pregnant women,Down’s syndrome screening results were positive in 31(1.10%),and Down’s syndrome was confirmed in 2(0.71‰).Compared with negative group and positive group,PAPP-A levels reduced,Fβ-hCG levels elevated and fetal NT thickness increased in Down’s syndrome group(P<0.05).Conclusion Screening for Down’s syndrome by ultrasonic measurement of fetal NT Thickness and determination of maternal serum PPAP-A and Fβ-hCG levels in early pregnancy can reduce the physical and psychological trauma caused by diseases.更多还原