唐氏筛查单项血清学指标异常对疾病的预测价值分析

Predictive value of single serological index abnormality in Down’s screening for the disease

目的探讨早期唐氏筛查单项血清学指标异常对染色体异常疾病的预测价值。方法回顾分析2016年1月至2019年8月在东莞市人民医院行早期唐氏筛查共15034例的妊娠结果及产前诊断结果,根据唐筛结果将研究对象分为三组:唐氏筛查高风险组、唐氏筛查低风险+单项指标异常组、唐氏筛查低风险+单项指标正常组,分析比较三组间染色体病异常发生率的差异。结果唐氏筛查高风险组432例,确诊染色体异常10例(2.3%)。唐氏筛查低风险+单项指标异常组1081例,其中单纯游离β-人绒毛膜促性腺激素异常847例,确诊染色体异常1例(0.12%);单纯妊娠相关蛋白降低234例,确诊染色体异常1例(0.43%)。唐氏筛查低风险+单项指标正常组5057例,产前及产后随访确诊染色体异常2例(0.04%)。比较三组染色体病的发生率,结果提示唐氏筛查高风险组显著高于单项指标均正常的低风险组(χ^2=94.452,P<0.001),对于唐氏筛查低风险病例,单项指标异常的发生率与单项指标正常组差别无统计学意义(χ^2=2.894,P>0.05)。结论早期唐氏筛查低风险,单项血清学指标异常不建议作为产前诊断的指征。

Objective To analyze predictive value of single serological index abnormality in early Down's syndrome(DS)screening for chromosome abnormalities.Methods From January 2016to August 2019,a total of 15034pregnant women who received early DS screening in Dongguan Municipal People's Hospital were included in this study.The prenatal diagnosis results and pregnancy outcomes of the pregnant women were collected.According to DS screening results,the pregnant women were divided into three groups:high risk DS group,low risk DS with abnormal single serological index group and low risk DS with normal single serological index group.Incidence of chromosome abnormality was compared among the three groups.Results In the high risk DS group,432cases were determined as high risk DS,and 10cases(2.3%)were diagnosed as chromosome abnormalities.Among 1081cases in the low risk DS with single serological index group,847cases had abnormal freeβ-human chorionic gonadotropin(fβ-HCG)and 1case(0.12%)was diagnosed as chromosome abnormality,234cases had lowered single pregnancy associated plasma protein(PAPP-A)and 1case of chromosome abnormality was confirmed(0.43%).In the low risk DS with normal single serological index group,5057 cases presented low risk DS and normal single serological index,and 2cases of chromosome abnormality(0.04%)were confirmed in prenatal and postnatal follow-up.The incidence of chromosome diseases in the three groups was compared,and the results indicated that the incidence of chromosome disease in high risk DS group was significantly higher than that in the low risk DS with all serological indexes normal group(χ^2=94.452,P<0.001).For those low risk DS cases,in the incidence of chromosome disease there was no significant difference between the low risk DS with single serological index abnormal group and the low risk DS with single serological index normal group(χ^2=2.894,P>0.05).Conclusion At the first trimester,abnormality in serum biochemistry marker combined with low risk DS screening result shouldn't be considered as prenatal diagnosis indicator of DS.