唐氏综合征产前血清标记物筛查的探讨

To Investigate the Serum Marker Pregnancy Detection in Prenatal Screening for Down Syndrome

目的:探讨血清标记物在唐氏综合征(Down syndrome,DS)产前筛查的变化及临床意义。方法:收集2014年7月至2017年7月就诊于我院的2598例妊娠中期(孕14+1~21+6周)的孕妇,应用定量质谱技术对其外周血清中甲胎蛋白(AFP)、人绒毛膜促性腺激素(HCG)、游离雌三醇(uE3)及抑制素A(InhA)标记物的含量进行检测,并结合孕妇的年龄、体质量、孕周时间、单双胎、糖尿病史、吸烟史、既往有无异常孕产史等因素,利用腾程产前筛查分析软件进行风险评估。结果:2598例妊娠中期的孕妇,筛查出染色体异常的有117例高风险高危妊娠孕妇,其中54例高危妊娠孕妇进一步性羊膜腔穿刺检查,诊断为唐氏综合征患者21例,2例18-三体综合征,3例其他染色体异常患者。高危组AFP水平低于低危组[(15.54±1.23)vs.(35.38±3.54)ng/mL];uE3水平低于低危组[(4.16±3.25)vs.(8.31±2.26)ng/mL],两组比较差异有统计学意义(P<0.05);HCG水平高于低危组[(2.94±1.26)vs.(1.16±3.12)m IU/mL],InhA水平高于低危组[(3.75±1.16)vs.(1.24±2.29)pg/mL],两组比较差异有统计学意义(P<0.05)。≤35岁孕妇出生缺陷总筛查阳性率(3.50%)低于>35岁孕妇(10.08%)(P<0.05)。>35岁孕妇总确诊阳性率(65.22%)高于≤35岁孕妇(35.48%)(P<0.05)。妊娠DS胎儿的孕妇血清内HCG、InhA升高,AFP、uE3降低(P<0.05)。结论:外周血AFP、uE3、HCG、InhA含量的检测可以用于孕妇的产前唐氏综合征血清标记物筛查,作为预测胎儿染色体异常的一个重要指标,降低唐氏综合征、18-三体综合征及其他染色体异常疾病的出生率,有利于优生工作。

Objective: To explore the change and clinical significance of serum markers in Down syndrome( Down syndrome,DS) prenatal screening. Methods: The selection from July 2014 to July 2017 in our hospital during the application of quantitative mass spectrometry was used to detect 2598 cases of 14+1~ 21+6 weeks pregnant women were detected serum AFP 、uE3、HCG and InhA markers and content,combined with maternal age,body mass,gestational weeks,single twins,smoking history,whether patients with diabetes,previous factors without abnormal pregnancy history,the use of Teng cheng version of the system risk assessment. Results: The 2598 cases of pregnant women,screening out the abnormal chromosome 117 cases of pregnant women with high risk pregnancy,including 54 cases of pregnant women were amniocentesis antenatal examination,diagnosis of Down syndrome in 21 cases,2 cases of trisomy 18-syndrome,3 cases of other fetal chromosomal abnormalities.( 1) The levels of AFP and uE3 were lower than that in the low-risk group,[( 15.54±1.23) vs.( 35.38±3.54) ng/mL]and [( 4.16±3.25) vs.( 8.31±2.26) ng/mL],respectively. the difference was significant( P <0.05). The levels of HCG and InhA were higher than that that in the low risk group,[( 2.94±1.26) vs.( 1.16±3.12) m IU/mL]and [( 2.94±1.26) vs.( 1.16±3.12) m IU/mL],respectively.( 2) The total positive rate of screening for birth defects in the > 35-year-old pregnant women( 10.08%)was higher in ≤35-year-old pregnant women( 3.50%),the difference was significant( P <0.05).( 3) The total positive rate of diagnosis of birth defects in high-risk group( 65.22%) was significantly higher than that in the low-risk pregnant women( 35.48%),the difference was significant( P <0.05).( 4) The levels of serum HCG and InhA rise while The levels of serum AFP and InhA reduced in the pregnant women of pregnancy DS fetal. Conclusions: The second trimester serum marker examination can be used as an important index prediction of fetal chromosomal abnormalities,and take effective measures in a timely manner through the prenatal diagnosis,can significantly reduce the birth defects,to help students work.