胎儿骨骼系统异常与染色体异常的相关性分析

The correlation analysis of fetal skeletal anomalies with chromosome abnormality by prenatal systematic ultrasonography examination

目的评价系统超声检出胎儿骨骼系统异常与染色体异常的相关性。方法收集2006年至2013年在四川省人民医院行系统超声检查的12 146人次的胎儿资料,筛选出21例既有骨骼系统异常表现又存在染色体异常的胎儿完整临床资料(包括系统超声检查图像资料,引产或产后追踪结果,羊水穿刺胎儿染色体检测结果),评价超声可检出的骨骼系统异常与染色体异常之间的相关性。结果本组资料共21例胎儿骨骼系统异常合并染色体异常,其中21-三体5例,18-三体11例,13-三体3例,余染色体异常2例[46,XYt(6,9),(46,XY,6 q-)],21-三体5例,18-三体11例,13-三体3例均合并其他系统畸形(如神经系统、颜面部畸形、心脏结构异常或宫内发育迟缓);仅2例为单发骨骼系统异常。结论系统超声检查作为可检出胎儿骨骼系统异常的有效方法,通过某些特定的骨骼系统超声征象以及合并多发畸形表现为临床提供寻找特定染色体异常的线索,达到优化产前诊断的目的。

Objective To evaluate the value of systemic ultrasound examination in prenatal diagnosis of fetus skeletal system anomaly combined with chromosomal abnormalities. Methods In 12 146 patients examined by systemic ultrasound in Sichuan Provincial People's Hospital from 2006 to 2013, 21 fetus with skeletal system abnormalities and chromosomal abnormalities were included in the study. And the correlation between skeletal system abnormalities and chromosomal abnormalities in fetus was evaluated. Results This study involves 21 cases of abnormal fetal skeletal system combined with chromosomal abnormalities. Among them, there were 5 cases of trisomy-21, 11 cases of trisomy-18, 3 cases of trisomy-13, 1 case of [46, XYt(6, 9)], and 1 case of(46, XY, 6 q-). In 19 cases, other system malformations were found, including nervous system abnormalities, facial deformity, cardiac structural abnormalities and intrauterine retardation. In the rest 2 cases, skeletal system abnormalities were the only structural malformation detected on prenatal ultrasound examination. Conclusion Systemic ultrasound can't only detect fetal skeletal system abnormalities but also provide clues for specific chromosomal abnormalities, which was useful in optimizing prenatal diagnosis.