胎儿骨骼系统畸形的产前超声诊断分析  

Prenatal ultrasonographic diagnosis of fetal skeletal system abnormalities

作　　者：林莲恩[1] 黎新艳[1] 姚慧[1] 胡慧云[1] 谭玲[1] 陈媚[1] 青凤 黄燕[1] 田晓先[1] 丘小霞[1] 

机构地区：[1]广西壮族自治区妇幼保健院广西壮族自治区妇产医院广西壮族自治区儿童医院超声科,广西南宁530003

出　　处：《中国妇幼保健》2016年第3期620-622,共3页Maternal and Child Health Care of China

基　　金：广西医疗卫生重点科研课题(重2010061);广西医疗卫生重点科研课题(重2011060);桂科攻(1298003-4-2)

摘　　要：目的 探讨产前超声诊断胎儿骨骼系统畸形的临床价值。方法 回顾性分析2013年1月-2015年6月在广西妇幼保健院经超声诊断为胎儿骨骼系统畸形并经追踪随访证实的患者资料。结果 343例胎儿纳入该研究,超声诊断完全符合332例,符合率为96.79%（332/343）,基本符合11例,占3.21%（11/343）,完全误诊3例足内翻;343例超声确诊的患者中,早中孕期有313例（91.25%）,晚孕期有30例（8.75%）;致死性骨骼发育异常19例,非致死性骨骼发育异常324例;骨骼系统畸形主要为肢体姿势异常、肢体缺失、脊柱畸形、指（趾）畸形、短肢畸形等;单纯骨骼系统畸形161例（46.94%）,合并其他系统畸形182例（53.06%）,以中枢神经系统畸形和心脏畸形多见。结论 产前超声是筛查胎儿骨骼系统畸形的主要手段,只有早孕期（孕周11~13＋6周）、中孕期（孕周20~24周）、晚孕期（孕周30~34周）联合筛查,才能提高胎儿骨骼系统畸形的检出率,最大限度地减少该类畸形儿的出生。Objective To evaluate the clinical value of prenatal ultrasonography in the diagnosis of fetal skeletal malforma- tions. Methods The clinical data of fetal skeletal malformations under ultrasonography and confirmed by follow-up in Guangxi Maternal and Child Health Care Hospital from January 2013 to June 2015 were retrospectively analyzed. Results A total of 343 fetuses were recruited, in which 332 cases had fully consistent results under ultrasonography, and the coincidence rate was 96.79% （332/343）, and 10 cases had ba- sically consistent results under ultrasonography, accounting for 3.21% （11/343） and 3 cases with strephenopodia was totally misdiagnosed; among 343 ultrasound diagnosed patients, 313 cases （91.25 % ） were diagnosed in early and middle pregnancy and 30 cases （8.75%） were diagnosed in late pregnancy; 19 cases had lethal skeletal deformity, 324 cases had non-lethal skeletal deformity. The skeletal malformations included limb posture abnormalities, limb loss, spinal deformity, etc ; there were 161 cases with simple skeletal malformation, 182 cases （ 53.06% ） with complex malformations, most of which were central nervous system abnormalities and cardiac malformations. Conclusion Ultrasonography is a main detective method for prenatal skeletal malformations. The screening can be combined including early pregnancy （1 lth-13th gestational week）, middle pregnancy （20th - 13th gestational week）, as late pregnancy （30th-34th gestational week）, so as to elevate detection rate of fetal skeletal malformations and minimize birth of such malformations.

关 键 词：骨骼畸形 胎儿超声 产前诊断 

分 类 号：R445.1[医药卫生—影像医学与核医学]