胎儿肢体畸形的超声诊断及与染色体异常的相关分析

Ultrasound diagnosis of fetal limb malformations and the correlation with the chromosome

目的评价胎儿肢体畸形的超声诊断价值及其与染色体异常的相关性。方法采用连续顺序追踪超声检测法常规检查2 820例孕妇,观察胎儿肢体发育情况,有无姿势异常及伴发其他器官的多发畸形,并与引产后结果及侵入性染色体检查对照分析。结果检出肢体畸形34例(1.2%),与引产后标本比较,超声诊断符合率为100%;其中30例行胎儿染色体检查,22例染色体正常(73.3%),8例染色体异常(26.7%)。结论胎儿肢体畸形有着典型的图像特征,连续顺序追踪检测法并辅以实时三维成像可以大大提高肢体畸形的检出率,是筛查胎儿肢体畸形的首选方法,胎儿肢体畸形常与其他器官畸形合并存在,且与染色体异常有着一定的关联性,可作为胎儿染色体筛查的重要指征。

Objective To assess the correlation of ultrasound diagnosis of fetal limb malformations with the chromosome.Methods 2 820 fetuses were checked by systematic continuous sequence approach（SCSA） prenatal ultrasonography.The features of fetal limb deformations were analysed and compared with the results of induced labor and chromosome examination.Results 34 cases of limb malformations were diagnosed by prenatal ultrasonography.Among 30 fetal chromosome analyzed,22 cases were normal in chromosome karyotype,8 cases presented abnormality.Conclusion The fetal limb malformations are characteristic on ultrasound screening,which are often complicated by multiple organ abnormalities and chromosome anomalies.With the assistance from three-dimensional ultrasound,SCSA prenatal ultrasonography may be the preferred method in the diagnosis of fetal limb malformations.