四维超声联合母体血清妊娠相关血浆蛋白A水平对孕中期胎儿中枢神经系统畸形的诊断价值

Diagnostic value of four-dimensional ultrasound combined with maternal serum pregnancy-associated plasma protein-A for mid-pregnancy fetal central nervous system malformations

摘要:

目的 探讨四维超声联合母体血清妊娠相关血浆蛋白A（PAPP-A）水平对孕中期胎儿中枢神经系统（CNS）畸形的诊断价值。方法 选取2022年10月—2024年10月新疆军区总医院接收的187例孕妇，年龄20～40岁，孕周20～26周；根据出生后的评估结果，对胎儿CNS畸形进行统计，根据胎儿是否发生CNS畸形将孕妇分为畸形组（10例）与非畸形组（177例），比较两组四维超声检查结果及母体血清PAPP-A水平，并采用受试者工作特征（ROC）曲线分析四维超声联合PAPP-A水平对孕中期胎儿CNS畸形的诊断效能。结果 四维超声诊断孕中期胎儿CNS畸形的敏感性为80.00%（95% CI：44.4，97.5），特异性为87.57%（95% CI：81.8，92.0）。畸形组母体血清PAPP-A水平低非畸形组（P <0.05）。ROC曲线结果显示，四维超声联合血清PAPP-A水平诊断孕中期胎儿CNS畸形的敏感性为90.0%（95% CI：0.555，0.997），特异性为97.2%（95% CI：0.935，0.991），曲线下面积为0.954（95% CI：0.879，1.000）。结论 四维超声与母体血清PAPP-A水平联合检测在诊断孕中期胎儿CNS畸形方面显示出高敏感性和特异性，其为孕中期胎儿CNS畸形的有效诊断手段。

Abstract:

Objective To investigate the diagnostic value of four-dimensional ultrasound combined with maternal serum pregnancy-associated plasma protein-A (PAPP-A) levels for mid-pregnancy fetal central nervous system malformations.Methods A total of 187 pregnant women admitted to Xinjiang Military Region General Hospital between October 2022 and October 2024 were enrolled. The participants were aged 20 to 40 years, with gestational weeks ranging from 20 to 26 weeks. Based on postnatal evaluation, the fetuses were classified into a malformation group (n = 10) and a non-malformation group (n = 177). Four-dimensional ultrasound findings and maternal serum PAPP-A levels were compared between the two groups. Receiver operating characteristic (ROC) curve analysis was used to assess the diagnostic performance of the combination of four-dimensional ultrasound and maternal serum PAPP-A levels for mid-pregnancy fetal central nervous system malformations.Results The sensitivity and specificity of four-dimensional ultrasound in detecting fetal central nervous system malformations were 80.00% (8/10) (95% CI: 0.444, 0.975) and 87.57% (155/177) (95% CI: 0.818, 0.920), respectively. Maternal serum PAPP-A levels in the malformation group were significantly lower than those in the non-malformation group (P < 0.05). ROC curve analysis showed that the combined detection yielded a sensitivity of 90.00% (95% CI: 0.555, 0.997), a specificity of 93.22% (95% CI: 0.883, 0.965), and an area under the curve (AUC) of 0.937 (95% CI: 0.879, 1.000).Conclusion The combination of four-dimensional ultrasound and maternal serum PAPP-A levels demonstrates high sensitivity and specificity in diagnosing mid-pregnancy fetal central nervous system malformations, supporting its value as an effective diagnostic method.