马爱琳 田序伟 曹伟

【摘要】目的 探讨二维、三维、四维（多维度）联合超声检查在南疆维吾尔族胎儿外观畸形产前诊断中的应用价值。方法 选取14 642例南疆维吾尔族孕妇中经产前多维度联合检查并经引产或者随访证实的77例外观畸形胎儿作为研究对象，收集其超声检查资料，对比二维超声与多维度联合产前超声对胎儿外观畸形的检出率。结果 77例外观畸形胎儿中，颜面部畸形10例、脊柱畸形9例、神经系统畸形6例、四肢畸形35例、混合畸形（畸形类型≥2种）17例，二维超声检查对胎儿外观畸形的检出率为73%（56/77），低于多维度超声检查的92%（71/77，P < 0.05）。结论 多维度联合超声检查在产前胎儿外观畸形诊断中能够有效提高检出率，具有较高的应用价值。

【关键词】超声检查;种族;胎儿畸形;产前诊断

【Abstract】Objective To explore the application value of multi-dimensional ultrasonography （2D， 3D combined with 4D） in the prenatal diagnosis of fetal malformation in southern Xinjiang Uygur autonomous region.  Methods Seventy-seven Uygur pregnant women diagnosed with fetal malformations by multi-dimensional ultrasonography， induced labor or follow-up were selected from 14 642 Uygur pregnant women and enrolled in this study. The ultrasound data of these 77 cases were obtained. The diagnostic rate of fetal malformation was statistically compared between 2D and multi-dimensional combined ultrasonography. Results Among 77 cases of fetal malformations， skull surface deformity occurred in 10 cases， spinal deformity in 9 cases， neurological deformity in 6 cases， limb deformity in 35 cases， mixed malformations （≥two types of malformations） in 17 cases， respectively. The diagnostic rate of fetal malformation by 2D ultrasonography was 73% （56/77）， significantly lower than that of 92% （71/77） （P < 0.05）. Conclusion Multi-dimensional combined ultrasonography can effectively improve the diagnostic rate for fetal malformation， which is of significant application value.

【Key words】Ultrasonography;Race;Fetal malformation;Prenatal diagnosis

胎儿先天性畸形或缺陷严重影响我国出生人口质量，并给孕妇及其家属带来身心的伤害，超声检查是产前筛查的首选方法，其对胎儿骨骼系统的显像有独特的优势，能及时早期检出胎儿骨骼系统畸形，有助于降低孕产妇和新生儿病死率。产前超声检查是能够尽早检测出胎儿外观畸形的最佳方案[1-2]。二维超声具有无创、重复性好、操作简单等特点，但具有一定局限性，三维及四维超声检查的立体成像、动态图像可观察胎儿表面的细微结构特征、位置关系，能够增加诊断能力[3]。新疆南疆地区偏远，医疗水平有限，而且该地区胎儿畸形相关资料鲜见报道。本文旨在探讨二维、三维、四维（多维度）联合超声检查在胎儿外观畸形产前诊断中的应用价值，提高南疆地区的超聲诊断水平。……