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目的:总结肢体畸形胎儿的超声诊断与染色体核型诊断结果,分析胎儿肢体畸形时超声诊断与染色体异常的相关性。方法:以孕18-32周的健康自愿者作为对照组(A组),以同期超声诊断异常者作为观察组(B组),两组均行超声及染色体检查。对比其染色体核型的检出情况;并以胎儿的超声诊断结果为自变量,以各染色体核型为因变量进行logistic回归分析。结果:A组染色体异常的检出率为2.1,与之相比,B组染色体异常检出率有明显升高,且染色体核型异常以47,XY,+18、47,XX+21和47,XXX为主,差异有统计学意义,P<0.05;logistic分析结果显示,染色体核型异常与胎儿肢体比例失调、四肢短小、肢体非功能位的OR值分别为6.332、7.404、5.981,P<0.05,差异显著。结论:胎儿肢体畸形患者染色体异常的诊出率较健康人群明显增高,染色体核型异常与超声诊断为胎儿肢体比例失调、四肢短小、肢体非功能位的比例呈正相关。
OBJECTIVE: To summarize the ultrasound diagnosis and karyotype diagnosis of fetus with limb deformity, and to analyze the correlation between ultrasound diagnosis and chromosomal abnormality in fetus limb deformity. Methods: Healthy volunteers aged 18-32 weeks were used as the control group (group A), while those with abnormal ultrasound diagnosis during the same period were selected as the observation group (group B). Ultrasound and chromosomal examination were performed in both groups. Compared with the detection of karyotype of the chromosome; and the fetal ultrasound diagnosis as the independent variable, the karyotype as the dependent variable logistic regression analysis. Results: The detection rate of chromosomal abnormalities in group A was 2.1. Compared with that in group B, the detection rate of chromosomal abnormalities was significantly increased, and the chromosomal abnormalities were found in 47, XY, + 18, 47, XX + 21 and 47 , And the difference was statistically significant (P <0.05). The results of logistic analysis showed that the OR values of chromosomal aberrations and fetal limbs were short, limbs were short, and non-functional limbs were 6.332,7.404,5.981, P < 0.05, significant difference. Conclusion: The diagnosis rate of chromosomal abnormalities in fetus with limb deformity is significantly higher than that in healthy people. The abnormality of karyotype and the diagnosis of fetus with fetal limbs are abnormal, with short limbs and non-functional limbs.