Ultrasonography in prenatal screening of brachydactyly / 中华全科医师杂志

ABSTRACT

From November.2015 to December 2016,targeted hand ultrasonographic examinations were carried out on 532 fetuses with family history,suspected limb deformities or other abnormalities.The number,size and shape of metacarpal and phalangeal bones were observed from coronal,axial and sagittal view.Three-dimensional ultrasound examination was performed on the suspected short fingers of fetal hands.Follow-up data were obtained in 382 cases.In 6 cases of prenatally detected brachydactyly,5 were bilateral and 1 case was unilateral.In these cases,more than one ossification centers of phalanxes were not present or significantly smaller.In 6 cases of brachydactyly,the termination of pregnancy was performed in 4 (including 2 cases with multiple malformations,and 2 cases with brachydactyly family history but without other abnormalities),while in other 2 cases without other abnormalities the pregnancy was retained until birth.X-rays and autopsies confirmed the prenatal diagnosis of brachydactyly in 4 cases of pregnancy termination,but duplicated distal phalanges of bilateral thumbs of 1 case was missed in prenatal scan.It is suggested that the targeted ultrasonographic scan of the fetal hands in high-risk population during pregnancy helps to detect severe brachydactyly.