HDlive imaging of the face of fetuses with autosomal trisomies.

Abstract

Our objective is to present our experience of facial dysmorphism reconstructed employing conventional three-dimensional (3D) ultrasound and HDlive in fetuses with autosomal trisomies. Seven fetuses with autosomal trisomies (one case of trisomy 13, three of trisomy 18, and three of trisomy 21) at 16-38weeks' gestation were studied using 3D ultrasound and HDlive. In one case of trisomy 21 at 29weeks and 5days, upward slanting eyes, a flattened nose, low-set ears, and the corners of the mouth turned down were noted employing HDlive. In the other two cases of trisomy 21, both techniques showed the same facial findings. In one case of trisomy 18 at 27weeks and 6days, a small head accompanied by a prominent back portion of the head, low-set ears, a small jaw, upturned nose, narrow eyelid folds, and widely spaced eyes were identified using HDlive. In the other two cases of trisomy 18, HDlive showed more detailed features of the fetal face compared to conventional 3D ultrasound. In the single case of trisomy 13 at 31weeks and 1day, cleft lip and close-set eyes were recognized with both 3D ultrasound and HDlive. HDlive can provide clearer facial images than conventional 3D ultrasound. In particular, HDlive is superior to conventional 3D ultrasound for the depiction of eye fissures because of its shadowing effect. HDlive may be a useful diagnostic modality for the antenatal evaluation of subtle fetal facial dysmorphism.