中晚孕期胎儿鼻骨异常预测21-三体

目的 评价中晚孕期胎儿鼻骨异常对21-三体的诊断价值。方法 分析在我院接受胎儿产前超声检查的5460名孕妇的资料,以常规超声检查胎儿及其附属物,如发现胎儿鼻骨异常,行羊膜腔穿刺或抽取脐带血进行染色体核型分析。结果 共发现10胎鼻骨异常。4胎鼻骨缺失,其中1胎骨骼发育障碍,染色体正常;余3 胎均为21-三体合并心脏或其他系统异常。6胎鼻骨发育不良,表现为鼻骨短小、一侧鼻骨缺失或鼻骨骨化不良,其中1胎为21-三体合并其他系统异常;1胎为地中海贫血,染色体正常;余4胎未合并其他系统异常,为孤立性鼻骨发育不良,染色体正常。结论 鼻骨缺失是21-三体的超声常见表现,但孤立性鼻骨发育不良对21-三体的诊断价值需要进一步探讨。

Abnormal fetal nasal bone in prediction of 21-trisomy in the second and third trimester

Objective To explore the value of abnormal fetal nasal bone for screening trisomy 21 in the second and third trimester. Methods Data of 5460 pregnant women underwent prenatal ultrasound were analyzed. Routine ultrasound was performed to detect fetus and appendages. When abnormalities of fetal nasal bone were found, amniocentesis or removable cord blood karyotype were performed. Results Abnormalities of fetal nasal bone were found in 10 fetuses. Among 4 fetal nasal bone absent, 1 appeared skeletal dysplasia and normal chromosome, 3 were trisomy 21 combined with cardiac or other systems abnormalities. Among 6 fetuses of nasal bone hypoplasia, short nasal, one-side nasal absence or poor nasal bone ossification were detected, 1 was trisomy 21 combined with other systems abnormalities, 1 was normal chromosome combined with thalassemia, and the rest 4 had normal chromosome and solitary nasal bone hypoplasia not combined with other system anomalities. Conclusion Nasal bone absence is often found with ultrasound in trisomy 21 fetuses, but the value of solitary nasal bone hypoplasia for screening trisomy 21 needs further research.