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

doi:10.3877/cma.j.issn.1672-6448.2015.02.012

Abstract

Abstract:

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.

Key words: Chromosomes, Fetus, Musculoskeletal system, Ultrasonography, prenatal

Wen Xiong, Hong Luo, Shaoyu An, Ying Wu, Yun Liu. The correlation analysis of fetal skeletal anomalies with chromosome abnormality by prenatal systematic ultrasonography examination[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2015, 12(02): 148-151.

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URL: https://chaosheng.cma-cmc.com.cn/EN/10.3877/cma.j.issn.1672-6448.2015.02.012

https://chaosheng.cma-cmc.com.cn/EN/Y2015/V12/I02/148

Figures/Tables 3

References 14

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类型	例数	超声表现
21-三体	5	鼻骨缺失、小指第二指节发育不良、髂骨角增大
18-三体	11	桡骨发育不良或缺失、钩状手、重叠指、摇椅足、多指、裂掌、下颌骨发育不良、足内翻、双手姿势异常
13-三体	3	下颌骨发育不良、多指
其他	2	单侧胫腓骨及足缺如、足内翻、脊柱侧弯

类型	例数	超声表现
21-三体	5	鼻骨缺失、小指第二指节发育不良、髂骨角增大
18-三体	11	桡骨发育不良或缺失、钩状手、重叠指、摇椅足、多指、裂掌、下颌骨发育不良、足内翻、双手姿势异常
13-三体	3	下颌骨发育不良、多指
其他	2	单侧胫腓骨及足缺如、足内翻、脊柱侧弯

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