目的:探讨超声筛查胎儿鼻骨发育异常与产前诊断胎儿染色体异常的关系。方法:选取实时三维超声系统筛查的孕妇26 299例,对超声发现胎儿鼻骨异常者行羊水穿刺进行染色体核型分析,并按孕妇年龄高(年龄≥35岁)、低(年龄<35岁)风险组及是否合并其他畸形进行分组分析。结果:共检出68例鼻骨发育异常胎儿,检出率为0.26%,其中包括鼻骨发育不良56例,鼻骨缺失12例。年龄高风险组孕妇中检出14例鼻骨发育异常,其中合并多发异常胎儿9例,单纯鼻骨发育异常胎儿5例;年龄低风险组孕妇中检出54例鼻骨发育异常,其中多发异常胎儿34例,单纯鼻骨发育异常胎儿20例。年龄高风险组孕妇中4例进行染色体检查,结果均为47,XN,+21;年龄低风险组单纯鼻骨发育异常胎儿随访到14例染色体结果,其中1例为染色体异常儿,其发生率要低于高年龄风险组(P<0.01)。结论:实时三维超声观察胎儿鼻骨并结合孕妇年龄及其他畸形发生情况对产前评估胎儿染色体情况有重要实用价值。 Objective: To investigate the relationship between fetus nasal bone development by ultrasound and prenatal diagnosis of fetal chromosomal abnormalities. Methods: Totally 26 299 pregnant women screened by real-time three-dimensional ultrasound system were selected. Chorionic karyotype analysis was performed on amniocentesis with abnormality of fetal nasal bone by ultrasonography. According to the age of the pregnant women (age≥35 years), low (age <35 years) Risk group and whether other deformity combined with group analysis. Results: A total of 68 cases of nasal abnormalities were detected, the detection rate was 0.26%, including 56 cases of nasal dysplasia and 12 cases of nasal bone loss. In the high-risk age group, 14 cases of abnormal nasal development were detected in pregnant women, including 9 cases with multiple abnormal fetuses and 5 cases with pure nasal bone abnormalities; 54 cases with abnormal nasal development in pregnant women with low risk group, 34 cases with multiple abnormal fetuses , Simple nasal development abnormal fetus 20 cases. In the age-high risk group, 4 cases of chromosomal examination were performed in 47 pregnant women with XN, +21; Fourteen cases of chromosomal abnormalities were observed in the low-risk age group with nasal abnormalities, of which 1 was chromosomal abnormality and its incidence was Lower than the high-risk group (P <0.01). Conclusion: Real-time three-dimensional sonography of fetus nasal bone combined with the age of pregnant women and other deformities have important practical value in prenatal assessment of fetal chromosomal status.