Application of two-dimensional and three-dimensional ultrasound in prenatal screening for brachydactyly deformity.

This study aims to summarize the characteristics of prenatal ultrasonography of the fetus with brachydactyly. From November 2015 to December 2016, a total of 10,866 pregnant women underwent prenatal ultrasound screening at the gestational age of 17-26 weeks. Targeted ultrasonographic imaging of the fetal hands was performed. The multi-view observation of fetal fingers by ultrasound was performed at different flexions of fingers (stretching, bending and fist) to observe the ultrasonographic manifestations of metacarpals and phalanges, and the number, size, shape and arrangement of the ossification centers of metacarpals and phalanges. A comparation was performed on the prenatal sonographic findings and the results of follow-up after termination of pregnancy or birth. The prenatal ultrasound detected six cases of brachydactyly. Among these cases, five cases were bilateral and one case was unilateral. In these cases, more than one ossification center of phalanxes were invisible or significantly smaller. Furthermore, among the six cases of brachydactyly, the women of four cases chose to terminate the pregnancy, while the women of the other two cases had no other abnormalities and gave birth. In the two cases with multiple malformations, one case was complicated with osteodysplasty, cleft lip and palate, and pleural effusion, while the other case was complicated with limb body wall complex and malformation of the heart. Overall, our results suggest that the targeted two- and three-dimensional ultrasound imaging of the fetal hands in the second trimester of pregnancy can improve the detection of severe brachydactyly.