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

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 % （i4/17）; 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 had a high incidence rate but a very low detection rate.