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目的通过对引产后骨骼发育异常胎儿进行骨骼X线检查,探讨骨骼X线检查对终止妊娠后的骨骼发育异常胎儿的诊断价值。材料与方法对25例妊娠17～40周、因严重短长骨并伴有其他异常而引产的胎儿进行全身正侧位骨骼X线检查;对同期65例妊娠13～34周、母亲自愿要求引产的发育正常的胎儿进行骨骼X线检查作为正常对照。分析正常胎儿骨骼发育的特点以及各种胎儿骨骼异常的X线特征。结果(1)妊娠13周后胎儿全身大部分骨骼已骨化,正常胎儿股骨、肱骨、胫骨、L1、髂骨等径线及胸径、腹径随孕周呈线性增长。(2)25例骨骼异常胎儿最后分别诊断为10种类型的骨骼疾病:软骨发育不全(6例),致死性发育不良Ⅰ型(4例),成骨不全(6例),短肋-多指综合征(2例),软骨成长不全Ⅰ型(1例),窒息性胸廓发育不良(1例),弯腿性发育不良(1例),脊椎干骺端发育不良(2例),骨硬化症(1例),局灶性股骨发育不良(1例)。不同类型的骨骼异常有各自特异性改变:成纤维细胞生长因子受体-3基因相关的骨骼发育异常如致死性发育不良Ⅰ型、软骨发育不全均出现长骨粗短、长骨骺端呈“杯口”样扩张、方形髂骨及坐骨切迹呈“鱼嘴”状改变;致死性发育不良Ⅰ型、成骨不全Ⅱ型、软骨成长不全Ⅰ型、窒息性胸廓发育不良、短肋-多指综合征等致死性骨骼发育异常的胎儿以胸廓狭小最常见。结论骨骼X线检查对骨骼发育异常引产后的胎儿具有重要诊断价值,尤其对于尚未能获得基因诊断的病例,有助于确诊以指导临床遗传咨询,评估复发风险。
Objective To investigate the diagnostic value of bone X-ray examination in fetus with skeletal development abnormalities after termination of pregnancy. MATERIALS AND METHODS: Whole body lateral scintigraphy was performed on 25 fetuses from 17 weeks to 40 weeks gestation, with severe short bones and other abnormalities. In the same period, 65 mothers of 13 to 34 weeks of gestation were mothers voluntarily requesting abortion Normal fetal development of bone X-ray examination as a normal control. Analysis of the characteristics of normal fetal bone development and various fetal bone abnormalities X-ray features. Results (1) Most of fetal bones had been ossified after 13 weeks of gestation. The diameters of normal femur, humerus, tibia, L1, iliac and other diameters, DBH and ABA increased linearly with gestational age. (2) Twenty-five cases of skeletal abnormalities were finally diagnosed as 10 types of skeletal diseases: achondroplasia (6 cases), fatal hypoplasia (4 cases), osteogenesis imperfecta (6 cases), short rib- Refers to syndrome (2 cases), type 1 hypochondroplasia (1 case), asphyxial thoracic dysplasia (1 case), curved leg hypoplasia (1 case), spine metaphyseal dysplasia (2 cases), bone Sclerosis (1 case), focal femoral dysplasia (1 case). Different types of skeletal abnormalities have their own specific changes: fibroblast growth factor receptor-3 gene-related skeletal dysplasia such as fatal dysplasia type Ⅰ, achondroplasia were long and short bones, the long metaphyseal was “cup Mouth ”like expansion, square ilium and ischial notch was “ fish head ”shape change; fatal hypoplasia type Ⅰ, osteogenesis imperfecta type Ⅱ, chondroitus hypoplasia Ⅰ type, asphyxiated thoracic dysplasia, short rib - Multiple finger syndrome and other fatal skeletal dysplasia of the fetus to the thoracic narrow most common. Conclusions Skeletal X-ray examination is of important diagnostic value for post-labor fetus with skeletal dysplasia, especially for those who have not been able to get genetic diagnosis, which is helpful for diagnosis to guide clinical genetic counseling and evaluate the risk of recurrence.