目的:分析孕中期四维联合二维超声用于胎儿唇腭裂筛查的准确性。方法:回顾性分析2019年3月至2022年3月接受产检孕中期孕妇1 201例临床资料,行二维超声、四维超声检查并随访分娩结局,分析二维超声、四维超声、四维联合二维超声对胎儿唇腭裂诊断效能,并比较三者对胎儿唇腭裂阳性病例检出率差异。结果:二维超声诊断胎儿唇腭裂的敏感度是51.61 %(32/62),特异度是98.42 %(1121/1139),阳性预测值是64.00 %(32/50),阴性预测值是97.39 %(1121/1151),准确率为96.00 %(1153/1201),Kappa值是0.551;四维超声诊断胎儿唇腭裂的敏感度是53.23 %(33/62),特异度是98.51 %(1122/1139),阳性预测值是66.00 %(33/50),阴性预测值是97.48 %(1122/1151),准确率是96.17 %(1155/1201),Kappa值是0.569;四维联合二维超声诊断胎儿唇腭裂的敏感度是83.87 %(52/62),特异度是98.77 %(1125/1139),阳性预测值是78.78 %(52/66),阴性预测值是99.11 %(1125/1135),准确率是98.00 %(1177/1201),Kappa值是0.801;各项检查准确率整体比较,差异无统计学意义(χ²=1.321,P=0.516);各项检查唇裂阳性病例检出率整体比较,差异无统计学意义(P＞0.05);各项检查腭裂、唇裂合并腭裂阳性病例检出率整体比较,差异有统计学意义(P＜0.05),二维、四维超声检出率均小于四维联合二维超声(P＜0.05),但二维、四维超声检出率之间无明显差异(P＞0.05)。结论:应用四维联合二维超声在胎儿唇腭裂筛查中准确率较单纯二维或四维超声无明显差异,然而其对于腭裂、唇裂合并腭裂胎儿阳性检出率更高,对于孕中期胎儿唇腭裂早期筛查具备临床应用价值。

Objective: To analyze the accuracy of four-dimensional ultrasound combined two-dimensional ultrasound in the second trimester in the screening of fetal cleft lip and palate. Methods: The clinical data of 1 201 pregnant women in the second trimester who received obstetric examination in the hospital from March 2019 to March 2022 were retrospectively analyzed. Two-dimensional and four-dimensional ultrasonography were performed and the delivery outcomes were followed up. The diagnostic efficiencies of two-dimensional ultrasound, four-dimensional ultrasound and four-dimensional combined with two-dimensional ultrasound on fetal cleft lip and palate were analyzed, and the differences in the detection rate of positive cases of fetal cleft lip and palate by the above examination methods were compared. Results: The sensitivity, specificity, positive predictive value, negative predictive value, accuracy rate and Kappa value in the diagnosis of fetal cleft lip and palate were 51.61 % (32/62), 98.42 % (1121/1139), 64.00 % (32/50), 97.39 % (1121/1151), 96.00 % (1153/1201) and 0.551 of two-dimensional ultrasound, were 53.23 % (33/62), 98.51 % (1122/1139), 66.00 % (33/50), 97.48 % (1122/1151), 96.17 % (1155/1201) and 0.569 of four-dimensional ultrasound, and were 83.87 % (52/62), 98.77 % (1125/1139), 78.78 % (52/66), 99.11 % (1125/1135), 98.00 % (1177/1201) and 0.801 of four-dimensional ultrasound combined two-dimensional ultrasound. The overall comparison of accuracy rate of two-dimensional ultrasound, four-dimensional ultrasound and four-dimensional combined with two-dimensional ultrasound showed no significant difference (χ²=1.321, P=0.516). There was no statistical significance in the overall comparison of detection rate of cleft lip positive cases among various examinations (P＞0.05). There were statistically significant differences in detection rates of positive cases with cleft palate and cleft lip combined with cleft palate among the three examination methods (P＜0.05), and the detection rates of two-dimensional ultrasound and four-dimensional ultrasound were lower than those of four-dimensional combined with two-dimensional ultrasound (P＜0.05), but there were no statistical differences between two-dimensional ultrasound and four-dimensional ultrasound (P＞0.05). Conclusion: There is no significant difference in the accuracy rate of fetal cleft lip and palate screening by four-dimensional combined two-dimensional ultrasound compared to simple two-dimensional or four-dimensional ultrasound. However, four-dimensional combined two-dimensional ultrasound has higher positive detection rates of cleft palate and cleft lip combined with cleft palate, and has clinical application value for early screening of cleft lip and palate in fetuses in the second trimester.