胎儿肢体畸形的超声诊断与染色体异常的相关性分析

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、5．98l，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。

Correlation Analysis of Ultrasound Diagnosis of Fetal Limb Malformations with Chromosomal Abnormalities

Objective： To summarize the results about limb malformation fetus of ultrasonic diagnosis and chromosome karyotype diagnosis, and to analyze the relation of ultrasound diagnosis of fetal limb malformations with chromosomal abnormalities. Methods： 18-32 weeks pregnant healthy women were selected as the control group （Group A）, Ultrasound diagnosis abnormal in the same period were selected as the observation group （Group B）. Ultrasound and chromosome examination were conducted in two groups. Results of karyotype detection were compared; when the fetal ultrasound diagnosis were used as the independent variable, Chromosome karyotype was analyzed using each dependent variable logistic regression. Result： The chromosomal abnormality detection rate in group A was 2.1. Compared with the Group A, the detection rate of chromosomal abnormalities in group B was significantly increased, and 47, XY, ＋ 18,47, XX q-21 and 47, XXX were main chromosome abnormalities, the difference was statistically significant, P〈0.05, the logistic re- gression analysis showed that the OR of karyotype abnormalities with fetal limb imbalance, Short limbs, Limb, non-functional position were 6.332, 7.404, 5.981, respectively （significantly difference, P〈0.05）. Conclusion： The rate of Fetal chromosomal abnormalities in pa- tients with limb deformities were significantly higher than those in healthy people. Karyotype abnormalities were positively correlated with ultrasound diagnosis of fetal limb imbalance, short limbs, limb proportion ofnon-fimctional position.