广西地区49669例中孕期母血清学三联筛查结果分析

Analysis of the 49669 cases results of second⁃trimester maternal serological triple screening in Guangxi Zhuang Autonomous Region

目的分析广西地区2015—2019年49669例中孕期母血清学三联筛查结果。方法应用时间分辨免疫荧光分析法检测在广西壮族自治区妇幼保健院进行产前筛查的49669例妊娠15~20^(+6)周孕妇血清中甲胎蛋白(alpha fetal protein,AFP)、游离β-人绒毛膜促性腺激素(free β-human chorionic gonadotrophin,free-β-hCG)及游离雌三醇(unconjugated estriol,uE3)的浓度。结合血清学指标浓度和孕妇自身风险因素,采用配套软件lifecycle 4.0评估唐氏综合征(Down syndrome,DS)、18-三体综合征(18-trisomy syndrome)和开放性神经管缺陷(open neural tube defects,ONTD)的发病风险。结果(1)49669例孕妇中,筛查高风险孕妇共3290例,总筛查阳性率为6.62%。其中DS高风险2890例、18-三体综合征高风险134例、ONTD高风险266例,高风险率分别为5.82%、0.27%和0.53%。(2)≥35岁年龄组孕妇DS高风险率、18-三体综合征高风险率均显著高于<35岁年龄组,差异有统计学意义(χ^(2)=244.392、273.720,均P<0.05)。(3)高风险孕妇中确诊DS 21例、18-三体综合征4例、ONTD 1例,在随访的低风险孕妇中确诊DS 6例、18-三体综合征2例,三种疾病的检出率分别为77.78%、66.67%和100%;阳性预测值分别为0.73%、2.99%和0.38%。(4)49669例孕妇中,低风险组46379例(93.38%),高风险组3290例(6.62%),高风险组孕妇不良妊娠结局发生率高于低风险组(3.46%vs 1.84%),差异有统计学意义(χ^(2)=39.696,P<0.05)。结论中孕期母血清学三联筛查方法简单高效、无创经济,结合相应产前诊断技术能够有效降低出生缺陷发生率,提高出生人口素质。

Objective To analyze the results of second-trimester maternal serological triple screening of 49669 pregnant women in Guangxi from 2015 to 2019.Methods The concentrations of serological indicators of 49669 pregnant women at 15~20^(+6) weeks gestation,including alpha fetal protein(AFP),freeβ-human chorionic gonadotrophin(free-β-hCG)and unconjugated estriol(uE3),were detected by using time-resolved immunofluorescence assay.The risks of Down syndrome(DS),18-trisomy syndrome and open neural tube defects(ONTD)were evaluated by using the assessment software lifecycle 4.0 in combination with the concentration of serological indicators and the risk factors of pregnant women.Results(1)Among 49669 pregnant women,3290 cases were screened as high-risk pregnant women,with a total positive rate of 6.62%.Among them,2890 cases were at high risk of DS,134 cases were at high risk of trisomy 18 syndrome and 266 cases were at high risk of ONTD.Their high-risk rates were 5.82%,0.27%and 0.53%respectively.(2)The high-risk rates for DS and trisomy 18 were significantly higher in the age group older than 35 years than those in the age group younger than 35 years,with statistical significance(χ^(2)=244.392 or 273.720,both P<0.05).(3)In the high-risk group,21 cases of DS,4 cases of trisomy 18 syndrome and 1 case of ONTD were diagnosed.Among the low-risk pregnant women who were followed up,6 cases of DS and 2 cases of trisomy 18 syndrome were diagnosed.Therefore,the detection rates of three diseases were 77.78%,66.67%and 100%in turn,and the positive predictive values were 0.73%,2.99%and 0.38%respectively.(4)Of the 49669 pregnant women,46379 pregnant women(93.38%)were classified as low-risk,and 3290 pregnant women(6.62%)were classified as high-risk.The incidence rate of adverse pregnancy outcomes in high-risk group was 3.45%,which was significantly higher than that in the low-risk group(3.45%vs 1.84%),with statistical significance(χ^(2)=39.696,P<0.05).Conclusions The second-trimester maternal serological triple screening is simple,efficient,non-invasive and economical which could reduce the incidence of birth defects effectively and improve the quality of the birth population when combined with the corresponding prenatal diagnosis technology.