孤立性鼻骨发育异常预测21-三体胎儿

目的 评估孤立性鼻骨发育异常预测21-三体胎儿的价值。方法 回顾性分析产前诊断发现的32胎鼻骨发育异常胎儿,孕11~32周。将32胎鼻骨异常胎儿分为两组,孤立性鼻骨发育异常组(21胎)和非孤立性鼻骨发育异常组(即同时合并其他系统异常,11胎)。采用Fisher确切概率法比较两组间21-三体的发生率。结果 孤立性鼻骨发育异常组21胎染色体结果均正常;非孤立性鼻骨发育异常组11胎中6胎染色体正常,5胎21-三体胎儿,二者21-三体胎儿发生率的差异有统计学意义(P=0.002)。结论 鼻骨发育异常、且同时合并其他系统异常的胎儿为21-三体的风险较高;而孤立性鼻骨发育异常胎儿染色体异常的风险较小。

Isolated abnormal fetal nasal bone for fetus with 21-trisomy

Objective To evaluate the diagnostic value of isolated abnormal fetal nasal bone for fetus with 21-trisomy. Methods Totally 32 fetuses (gestational age from 11 weeks to 32 weeks) with abnormal nasal bone were analyzed retrospectively. All fetuses were categorized into isolated dysplasia nasal bone group (n=21) and non-isolated dysplasia group (with other systems abnormity, n=11). The difference of incidence of 21-trisomy between two groups were compared by Fisher probabilities. Results All the 21 fetuses with isolated dysplasia nasal bone had normal karyotype. Among 11 fetuses in non-isolated dysplasia group, five fetuses with Down syndrome and six fetuses had normal karyotype. The difference of incidence of 21-trisomy between two groups were statistical significance (P=0.002). Conclusion Fetuses with abnormal nasal nose and other systems abnormality have higher risk of 21-trisomy, comparing with fetuses of solitary bone dysplasia.