产前超声诊断及漏诊胎儿肢体畸形分析

目的:探讨胎儿肢体畸形超声特征及诊断价值。方法:采用连续顺序追踪法对66342例妊娠12-40周孕妇行胎儿四肢畸形筛查。将产前超声诊断结果与引产或产后结果进行对比分析。结果:发生肢体畸形271例,发生率为0.41%(271/66342),包括四肢短小5例,桡骨发育不全1例,缺肢畸形5例,足内翻17例,手掌畸形3例,指趾畸形222例及骨骼多发畸形18例。其中产前诊断胎儿肢体畸形49例;漏诊222例,包括:足内翻3例、指趾畸形218例、多发骨骼畸形1例。胎儿肢体畸形的出现率和产前检出率分别为:四肢短小1.84%(5/271)、100%(5/5);桡骨发育不全0.36%(1/271)、100%(1/1);缺肢畸形1.84%(5/271)、100%(5/5);足内翻6.27%(17/271)、82.35%(14/17);手掌畸形1.10%(3/271)、100%(3/3);指趾畸形81.91%(222/217)、1.8%(4/222);多发骨骼畸形6.64%(18/271)、94.44%(17/18)。结论:超声对胎儿手掌、脚掌部位以上畸形的检出率较高。指趾畸形出现率最高,但检出率最低。

Analysis of Prenatal Ultrasound Diagnosis and Missed Diagnosis of Fetal Limb Deformities

ABSTRACT Objective:This study was to investigate the ultrasonic characteristics and its value for fetal limb deformities. Methods:Systematic continuous sequence approach was performed to observe fetal limbs and fetal limb deformities for 66,342 cases of pregnancy in 12-40 weeks. The prenatal diagnosis results were analyzed and compared with postnatal results. Results:Two hundred and seventy-one cases in 66,342 fetuses occurred limb deformities (incidence rate as 0.41% ) including five cases of short limbs, one case of radial hypoplasia, five cases of ectromelia, 17 cases of strephenopodia, 3 cases of palm deformities, 222 cases of fingers and toes deformities, 17 cases of multiple skeletal deformities. Forty-nine cases of fetal limb deformities were diagnosed by prenatal ultrasound and 222 cases were missed including 3 cases of strephenopodia, 218 cases of fingers and toes deformities, 1 case of multiple skeletal deformities. The frequency and prenatal detection rate of fetal limb deformities were: short limbs 1.84 % (5/271) and 100 % (5/5); radial hypoplasia 0.36 % (1/271) and 100 % (1/1); ectromelia 1.84 % (5/271) and 100 % (5/5); strephenopodia 6.27 % (17/271) and 82.35 % (14/17); palm deformity 1.10 % (3/271) and 100 % (3/3); fingers and toes deformities 81.91 % (222/217) and 1.8 % (4/222); multiple skeletal deformities 6.64 % (18/271) and 94.44 % (17/18).Conclusion: The detection rate of prenatal ultrasound was very high for the limb deformities above fetal palms and soles. Fingers and toes deformities hada high incidence rate but a very low detection rate.