超声检查在产前筛查短指畸形中应用的探讨  

Ultrasonography in prenatal screening of brachydactyly

作　　者：胡佳琪[1] 张玉国[1] 何娟[1] 刘一[1] 黄佳[1] 石华[1] Hu Jiaqi;Zhang Yuguo;He Juan;Liu Yi;Huang Jia;Shi Hua(Center of Obstetrical and Gynecological Ultrasonography,Renmin Hospital of Wuhan University,Wuhan 430060,China)

机构地区：[1]武汉大学人民医院妇产超声科,430060

出　　处：《中华全科医师杂志》2019年第6期576-579,共4页Chinese Journal of General Practitioners

摘　　要：2015年11月至2016年12月,对有家族史、可疑肢体或其他异常的532例胎儿进行针对性手超声检查,从冠状面、横断面和矢状面观察掌骨、指骨的数量、大小、形态等,并对可疑短指的胎儿手进行三维超声检查,其中382例有随访资料。产前超声检出6例短指畸形,其中5例为双侧,1例为单侧,均为多个指骨骨化中心未显示或显著偏小。4例引产,为2例伴多发畸形、2例有短指家族史但未见其他异常者,引产后尸检和X线检查证实超声检查短指的诊断,1例有产前超声检查未诊断的双侧拇指重复的远节指骨;2例无其他异常者继续妊娠,孕足月出生其中1例产前超声未检出。提示中孕期对高危人群进行手指针对性超声筛查有助于检出严重短指畸形。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.

关 键 词：超声检查 产前 产前诊断 手畸形 短指 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.53[医药卫生—诊断学]