胎儿肢体畸形的产前超声诊断分析

Prenatal ultrasound diagnosis and analysis of fetal limb deformities

目的探讨胎儿肢体畸形超声声像图特征及方法学特点。方法回顾性分析2010年5月至2012年5月在成都军区总医院接受系统性超声检查的6 336例孕妇,使用连续顺序追踪超声法(SCSA)检测胎儿上下肢长骨,观察手足时加用弧形扫查法,动态观察胎儿肢体的形态、结构、姿势及运动等情况。系统检查完成后对可疑或畸形部位进行三维成像作为补充,对胎儿肢体畸形的产前超声诊断结果进行分析。结果 6 336例孕妇经引产或出生后证实的胎儿肢体畸形20例,产前超声检出18例,分别为四肢短小畸形5例,致死性侏儒3例,海豹肢畸形1例,双侧桡骨缺失1例,一侧手缺失1例,双下肢小腿缺失1例,多指(趾)2例,足内翻3例,重叠指1例;2例漏诊分别为多指及重叠指。结论末端指趾数目及手足姿势异常易漏诊,是检查的难点和重点。

Objective To explore the uttrasonographic characteristics and methodology characteristics of fetal limb deformities. Methods A retrospective analysis was made on 6 336 pregnant women accepting systematic prenatal ultrasonography during the period of May 2010 to May 2012 in the General Hospital of Chengdu Military Region. The long bones of the upper and lower limbs were scanned by using the systematic continuous sequence approach（SCSA） and by adding the arc rotaryprocess for observing the hands and feet, fetal limbs morphology, structure, posture and movement, etc. were dynamically observed. The suspected position or fetal limb deformities were examined with three-dimensional（3D） ultrasonography as the supplementary. The prenatal ultrasound examination results of fetal limb deformities were analyzed. Results Among 6 336 pregnant women,20 cases of fetal limb deformi- ties were confirmed by induced labor or after birth, 18 cases were diagnosed by the prenatal ultrsound,including 5 cases of short limbs deformity,3 cases of fatal dwarf, 1 case of phocomelia, 1 case of double radiuses absence, 1 case of unilateral hand missing, 1 case of double shank absence,2 cases of polydactyly,3 cases of foot varus and 1 case of overlapping finger. 2 cases of missed diagno- sis were multiple fingers and overlapping finger. Conclusion The abnormality of terminal fingers（toes） number and posture is easy to be missed diagnosis,which are the difficulty and the key point of examination.