连续顺序追踪超声检测结合三维表面成像技术在胎儿肢体畸形筛查中的应用

Application of systematic continuous sequence approach combined with three-dimensional surface imaging in screening of fetal limb deformities

目的探讨连续顺序追踪超声(SCSA)检测结合三维表面成像技术在胎儿肢体畸形筛查中的应用价值。方法采用SCSA法结合三维表面成像技术检查我院2016年1~12月期间2482例胎儿,观察胎儿的肢体发育及伴发畸形等情况,将超声结果与引产尸检作对照。结果 2482例产前超声检出肢体畸形23例,占0.9%,共27处畸形,其中四肢短小畸形占44.5%,足内翻占18.5%,桡骨发育不全占25.9%,重叠指占7.4%,肢体远端手缺如占3.7%;其中20例伴发多部位畸形,包括心脏畸形、胸腔积液、脑积水、唇腭裂、Dandy-Walker综合征、马蹄肾、肺发育不良、无脑、小脑发育不全等。经引产胎儿外观及X线检查证实肢体畸形应有29处,产前超声漏诊1处多指,1处并指,产前超声诊断胎儿肢体畸形符合率为93.1%(27/29)。结论 SCSA法结合三维表面成像技术可直观形象地观察胎儿的肢体及骨骼发育情况,是筛查胎儿肢体畸形的有效方法。

Objective To explore the application value of systematic continuous sequence approach （SCSA） combined with three-dimensional surface imaging in the screening of fetal limb deformities. Methods 2482 fetuses were exam- ined by SCSA method combined with three-dimensional surface imaging technique in our hospital from January to De- cember 2016. The limb development and associated deformities of the fetuses were observed. And the results were compared with those of abortion autopsy. Results 23 cases（0.9%） of limb deformity were detected by prenatal ultra- sound in 2482 fetuses,with a total of 27 deformities,including 44.5% of short limbs deformity, 18.5% of varus,25.9% of radius hypoplasia,7.4% of overlapping finger and 3.7% of limb distal hand absence. 20 cases of them were associated with multiple site deformities,including cardiac malformations,pleural effusion,hydrocephalus,cleft lip and palate, Dandy-Walker syndrome, horseshoe kidney,lung dysplasia,no brain,cerebellar hypoplasia and so on. There were 29 limb deformities confirmed by appearance and X-ray examination of abortion fetuses. Prenatal ultrasound missed 1 case of multi-finger and 1 case of syndactyly. The coincidence rate of fetal limb deformities diagnosed by prenatal ultrasound was 93.1%（27/29）. Conclusion SCSA method combined with three-dimensional surface imaging technology can visually observe the fetal limb and bone development, which is an effective way to screen fetal limb deformities.