CAJ | 학술논문

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2823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2823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2823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‰（2／2823）。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。
목적：탐토잉조기채용초성검측태인경부투명연조직（NT）후도연합모친혈청임신상관혈장단백 A （PAPP-A）、유리β-인융모막촉성선격소（Fβ-hCG）수평검측재진단태인당씨종합정중적개치。방법대2823례잉주재10～14주적단태잉부，채용초성검측태인 NT 후도，생화검측모친혈청 PAPP-A、Fβ-hCG 수평；대태인 NT후도，모친혈청 PAPP-A、Fβ-hCG 수평이상자진일보행산전염색체검사。장2823례잉부안검측결과분위음성조（태인당씨종합정검측음성）、양성조（태인당씨종합정검측양성）여당씨종합정조（염색체검사학진태인환당씨종합정），비교3조태인 NT 후도，모친혈청 PAPP-A、Fβ-hCG 수평적차이。결과2823례잉부중，태인당씨종합정양성31례，양성솔위1．10％；31례양성태인학진당씨종합정2례，검출솔위0．71‰（2／2823）。여음성조、양성조비교，당씨종합정조잉부혈청 PAPP-A 수평현저강저（P ＜0．05）、Fβ-hCG 수평현저승고（P ＜0．05），태인 NT 후도명현증후（P ＜0．05）。결론재잉조기대잉부채용초성검측태인 NT 후도연합모친혈청 PPAP-A、Fβ-hCG 수평검측대진단태인당씨종합정유착적겁적의의，가이감소인질병급환자대래적신체화심리상적상해。
ABSTRACT:Objective To investigate the value of combination of ultrasonic measurement of fe-tal nuchal translucency (NT)thickness and determination of maternal serum pregnancy-associat-ed plasma protein-A (PPAP-A)and free β human chorionic gonadotrophin (Fβ-hCG)levels in early pregnancy in the diagnosis of Down’s syndrome.Methods Fetal NT thickness was meas-ured 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 exami-nation 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 syn-drome)and Down’s syndrome group (confirmed by chromosome examination).Fetal NT thick-ness and maternal serum PAPP-A and Fβ-hCG levels were compared among the three groups.Re-sults 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 in-creased 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 dis-eases.