Angelova L, Gadancheva V, Konstantinova D, Stoianova M, Hachmerian M, Yakov B, Kremenski I
Akush Ginekol (Sofiia). 2013;52(5):8-13.
The aim is to perform our eight-year experience on prenatal (matemal) screening for Down syndrome (DS).
Pregnant women underwent screening in second trimester (ST2) - 14(+4)-19(+3) gestational week using serum AFP and free beta-hCG biochemical markers. A more sensitive first trimester test has been implemented in 11(+0)-13(+6) gestational weeks since the end of 2009. This combined screening test (CST1) was based on US measurements of NT (nuchal translucency) and NB (nasal bones) supplemented by biochemical markers of serum free beta-hCG and PAPP-A. Uniform methodology, web-based software and system for laboratory quality control had been used. False positive ratios for DS were estimated at cut-offs 1/250 for Down syndrome and 1/100 for Edwards syndrome.
The test was performed on 17 468 pregnant women: 13 016 by biochemical screening 2 test (BHS2) and 4452 by first trimester test CST1. High risk for a chromosome disorder by BHS2 test was found in 1097 (8,4%) cases (5,96% < 35 years and 21,13% > 35 years). 7 fetuses were diagnosed with chromosome disease (5 fetuses with trisomy 21,1 - trisomy 18 and 1 - triploid); false positive were 1090 (8,4%). High risk for a chromosome disorder by CST1 test was found in 102 (2,3%) cases. 4 affected fetuses were diagnosed (3 with trisomy 21 and 1 with trisomy 13). Verified diagnosis for DS by first and second trimester tests were 43% (3 out of 7 cases) with 57% false negative results and 45,5% (6 out of 11 cases) with 54,5% false negative results respectively. Description of biochemical values/MoMs and US measurements are applied.
We comment on the importance of US measurements in CST1 test and correct analysis of biochemical and US markers in counseling of every individual patient, beyond final risk number.
目的是介绍我们在唐氏综合征（DS）产前（母体）筛查方面的八年经验。
孕妇在孕中期（ST2）——妊娠第14（+4）至19（+3）周接受筛查，使用血清甲胎蛋白（AFP）和游离β-人绒毛膜促性腺激素（β-hCG）生化标志物。自2009年底起，在妊娠第11（+0）至13（+6）周实施了更敏感的孕早期检测。这种联合筛查试验（CST1）基于超声测量胎儿颈部透明带（NT）和鼻骨（NB），并辅以血清游离β-hCG和妊娠相关血浆蛋白-A（PAPP-A）生化标志物。采用了统一的方法、基于网络的软件和实验室质量控制系统。唐氏综合征的假阳性率估计在唐氏综合征截断值为1/250、爱德华兹综合征截断值为1/100时。
对17468名孕妇进行了检测：13016名通过生化筛查试验2（BHS2），4452名通过孕早期检测CST1。BHS2试验发现1〇97例（8.4%）染色体疾病高危病例（35岁以下为5.96%，35岁以上为21.13%）。7例胎儿被诊断为染色体疾病（5例21三体、1例18三体和1例三倍体）；假阳性为1〇9〇例（8.4%）。CST1试验发现1〇2例（2.3%）染色体疾病高危病例。4例受影响胎儿被诊断出来（3例21三体和1例13三体）。孕早期和孕中期试验对唐氏综合征的确诊率分别为43%（7例中的3例），假阴性结果为57%；以及45.5%（11例中的6例），假阴性结果为54.5%。应用了生化值/中位数倍数（MoMs）和超声测量的描述。
我们阐述了超声测量在CST1试验中的重要性，以及在为每位患者咨询时，除最终风险数字外，对生化和超声标志物进行正确分析的重要性。
