Trisomy 21: 91% detection rate using second-trimester ultrasound markers
Trisomy 21: 91% detection rate using second-trimester ultrasound markers
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DOI：
10.1046/j.1469-0705.2000.00203.x
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发表时间：
2000-08-01
影响因子：
7.1
通讯作者：
Devore, GR
中科院分区：
文献类型：
--
作者：
Devore, GR
目的检查心血管和非心血管产前超声标记，确定不同技术水平的医生可以使用哪些标记来识别21三体胎儿。方法对80例21三体妊娠中期胎儿和2000例对照组进行实时彩色多普勒心血管和非心血管系统检查，并行羊膜穿刺。非心脏标志物为中枢神经系统畸形（CNS）；脉络丛囊肿（CPC）；颈部皮肤褶皱异常；高回声肠（HB）；肾盂扩张（PY）。心脏指标包括室间隔缺损、左右室不对称（RL）；三尖瓣返流;二尖瓣反流；心包积液;和流出道异常（OFT）。使用多项逻辑回归来确定标记之间的相互作用。采用Logistic回归方法确定哪些标记组合对鉴定21三体胎儿有显著贡献，并计算似然比。结果除CPC、MR、OFT三种标志物外，其余三种标志物对91%的21三体胎儿有显著的鉴别作用，假阳性率为14%。当仅检查非心血管标志物时，除CPC外，所有标志物都有助于鉴定60%的21三体胎儿，假阳性率为5.9%。结合CNS、NSF HE和PY检测，75%的胎儿患有21三体，假阳性率为6.4%。除RL和NSF外，所有标记物均为21三体的独立预测因子。结论根据选择不同的标志物进行评价，超声检查21三体胎儿的检出率为60% ~ 91%。
Objectives To examine cardiovascular and non-cardiovascular prenatal ultrasound markers and determine which markers physicians of varying skill levels could use to identify fetuses with trisomy 21.Methods Eighty second-trimester fetuses with trisomy 21 and 2000 controls underwent real-time plus color Doppler examination of cardiovascular and non-cardiovascular systems followed by amniocentesis. Non-cardiac markers were central nervous' system malformations (CNS); choroid plexus cysts (CPC); abnormal nuchal skin fold (NSF); hyperechoic bowel (HB); and pyelectasis (PY). Cardiac markers consisted of ventricular septal defect, right-to-left chamber disproportion (RL); tricuspid regurgitation; mitral regurgitation (MR); pericardial effusion; and outflow tract abnormalities (OFT). Multinomial logistic regression was used to identify interactivity between the markers. Logistic regression was utilized to identify which combinations of markers significantly contributed to the identification of fetuses with trisomy 21 and to compute the likelihood ratio.Results All but three markers (CPC, MR, OFT) contributed significantly to the identification of 91% of fetuses with trisomy 21 with a false-positive rate of 14%. When only non-cardiovascular markers were examined all but CPC contributed to the identification of 60% of fetuses with trisomy 21 with a false-positive rate of 5.9%. Combining right-to-left chamber disproportion with CNS, NSF HE and PY identified 75% of fetuses with trisomy 21 with a false-positive rate of 6.4%. All markers were independent predictors of trisomy 21 except RL and NSF.Conclusion Ultrasound can detect between 60 and 91% of fetuses with trisomy 21 depending upon which markers are selected for evaluation.