The correlation analysis of fetal skeletal anomalies with chromosome abnormality by prenatal systematic ultrasonography examination
10.3877/cma.j.issn.1672-6448.2015.02.012
- VernacularTitle:胎儿骨骼系统异常与染色体异常的相关性分析
- Author:
Wen, XIONG
;
Hong, LUO
;
Shaoyu, AN
;
Ying, WU
;
Yun, LIU
- Publication Type:Journal Article
- Keywords:
Chromosomes;
Fetus;
Musculoskeletal system;
Ultrasonography,prenatal
- From:
Chinese Journal of Medical Ultrasound (Electronic Edition)
2015;(2):148-151
- CountryChina
- Language:Chinese
-
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.
