CAJ | 학술논문

目的：探讨产前超声诊断胎儿四肢骨骼系统发育畸形的临床价值。方法：回顾性分析32例胎儿四肢骨骼系统发育畸形的超声声像图特点,与产后或引产后X线检查或尸检结果对照。结果：产前超声诊断32例胎儿四肢骨骼系统发育畸形与产后及引产后X线检查或尸检结果完全相符,其中致死性侏儒畸形6例,四肢短小畸形4例,肢体屈曲畸形2例,双侧上肢尺桡骨缺如畸形1例,一侧上肢桡骨缺如畸形1例,上肢缺如畸形2例,下肢缺如畸形3例,手足多指（趾）畸形2例,足缺（趾）畸形1例,马蹄内翻足畸形9例,人体鱼序列征1例。结论：产前超声检查诊断胎儿四肢骨骼系统发育畸形准确率高,且安全、无创、无辐射、可重复检查,是产前诊断胎儿四肢骨骼系统发育畸形的有效方法。
목적：탐토산전초성진단태인사지골격계통발육기형적림상개치。방법：회고성분석32례태인사지골격계통발육기형적초성성상도특점,여산후혹인산후X선검사혹시검결과대조。결과：산전초성진단32례태인사지골격계통발육기형여산후급인산후X선검사혹시검결과완전상부,기중치사성주유기형6례,사지단소기형4례,지체굴곡기형2례,쌍측상지척뇨골결여기형1례,일측상지뇨골결여기형1례,상지결여기형2례,하지결여기형3례,수족다지（지）기형2례,족결（지）기형1례,마제내번족기형9례,인체어서렬정1례。결론：산전초성검사진단태인사지골격계통발육기형준학솔고,차안전、무창、무복사、가중복검사,시산전진단태인사지골격계통발육기형적유효방법。
Objective：To investigate the clinical value of prenatal ultrasound diagnosis of fetal skeletal malformations in the limbs.Methods：Retrospective analysis of ultrasonographic features in 32 cases of fetal skeletal malformations of the limbs was conducted,the results were compared to the X-ray examination results and autopsy results postpartum or after induced abortion.Results：Prenatal ultrasound diagnosis of 32 cases of fetal limb skeletal system malformations matched the results of X-ray examination and the results from autopsy postpartum or after induced abortion.Among the 32 cases,there were 6 cases of dwarf lethal deformity,4 cases of short limbs deformity,2 cases of limb flexion deformity,1 case of bilateral absence of upper limb deformity of radius and ulna,1 case of absence of one side of the upper radial deformity,2 cases of absence of upper limb deformity,3 cases of absence of lower limb deformity,2 cases of hand-foot multi-finger（toe） deformity,1 case of foot missing（toe） malformation,9 cases of clubfoot deformity,and 1 case of sequence of human fish levy.Conclusion： Being accurate,safe,non-invasive,non-radiative and repeatable,prenatal ultrasound diagnosis of fetal limb skeletal system was an effective way.