ABSTRACT
Objective To summarize the sonographic features of fetal limb deformity. Methods Systematic continuous sequence approach (SCSA) was performed with two-dimensional and three-dimensional ultrasonography(USG) in 28 383 fetuses to observe the fetal limb development, posture abnormality and other accompanied malformations. Compared with the pathological and radiological findings, the characteristics of fetal limb deformity on USG were summarized. Results Among 28 383 fetuses prenatal ultrasound detected 207 cases of fetal malformations (0.7%, 207/28 383) including 29 cases of limb deformities (14%, 29/207). In the 29 cases, there were osteogenesis imperfecta in 2 cases, syndactyly in 1 case, cleft hand deformities in 1 case, uncifom hand in 1 case, clubfoot deformity in 12 cases, cleft foot in 1 case, micromelia in 4 cases, limb body wall complex in 1 case, forearm defect in 2 cases, and radius absence in 4 cases. Chromosome karyotype analysis was conducted in 7/29 cases, of which 6 cases were normal and 1 case was trisomy-13 with syndactyly. In addition, the fetal limb deformities were found at 17-19 weeks of gestation in 4 cases, at 20-24 weeks in 23 cases, and at 25-33 weeks in 2 cases. In summary, 27/29 cases were identiifed at 17-24 weeks of gestation. Conclusions Prenatal ultrasound is the ifrst-choice method for screening of fetal limb deformity. The detection rate of limb deformity could be greatly improved by using SCSA method with the supplement of 3D ultrasound.