胎儿鼻骨发育异常109例的染色体核型和微阵列分析

摘要

目的 探讨产前胎儿鼻骨发育异常与染色体G显带和微阵列分析(chromosomal microarray analysis,CMA)结果的关系.方法 回顾性分析109例因产前超声筛查发现胎儿鼻骨发育异常的孕妇资料,研究其产前诊断、胎儿染色体G显带和CMA的关系.以胎儿鼻骨长度为标准,分为鼻骨缺失和鼻骨发育不良两组;以是否合并其他超声软指标或结构异常,分为单纯组和合并组.全部病例行介入性产前诊断染色体G显带和CMA分析,通过χ2检验比较鼻骨发育异常与染色体核型异常关系.结果(1)检出染色体异常共31例,异常率28.44％(31/109).(2)鼻骨缺失和鼻骨发育不良两组胎儿染色体异常率分别为36％(18/50)和22.03％(13/59),两组比较差异无统计学意义(P＞0.05).单纯组和合并组胎儿染色体异常率分别为20％(11/55)和37.04％(20/54),两组比较差异有统计学意义(P＜0.05).(3)合并组发现3例Wolf-Hirschhorn综合征.结论 产前筛查鼻骨发育异常,与胎儿染色体异常关系密切.鼻骨发育不良与鼻骨缺失差异不大,建议详细的超声检查,若合并其他超声软指标或结构异常,应行介入性产前诊断.%Objective To investigate the correlations between fetal nasal hypoplasia and chromosome G banding and chromosomal microarray analysis (CMA). Methods The data of 109 pregnant women with fetal nasal hypoplasia according to prenatal ultrasound screening were analyzed. The fetal chromosome G banding and CMA were investigated. The pregnant women were divided into two groups according to the length of fetal nasal bone, the absence group and the hypoplasia group. Meanwhile, the participants were also assigned into the simple group and the combined group, according to the fetus whether associated with other soft markers or structural abnormalities by prenatal ultrasound screening. G banding and CMA analysis were performed in all pregnant women by invasive prenatal diagnosis. Results Chromosome abnormalities were detected in 31 cases (28.44％, 31/109). Chromosomal abnormalities in the absence group and the hypoplasia group were 36％ (18/50) and 22.03％ (13/59), respectively. There was no significant difference between the two groups (P＞0.05). Chromosomes abnormalities were 20％ (11/55) and 37.04％ (20/54) in the simple group and the combined group, respectively. The difference between the two groups was statistically significant (P＜0.05). 3 cases of Wolf-Hirschhorn syndrome were found in the combined group. Conclusion Fetal nasal hypoplasia is closely correlated to fetal chromosomal abnormalities. There is no significant difference between nasal hypoplasia and absence. When the fetus are combined with other soft markers or structural abnormalities, invasive prenatal diagnosis is recommended.