产前超声诊断胎儿鼻骨缺失与鼻骨短小的差异

Difference of Prenatal Ultrasound in the Diagnosis of Absence of Nasal Bone and Short Nasal Bone in Fetuses

目的探讨产前超声诊断胎儿鼻骨缺失与鼻骨短小的差异。资料与方法回顾性分析2015年8月-2016年7月在郑州大学第三附属医院进行中孕期产前超声系统筛查的孕妇23 131例,分别记录鼻骨缺失、鼻骨短小病例及其伴发畸形类型,对其中进行染色体检查的病例记录染色体结果,并按鼻骨缺失、鼻骨短小及是否合并畸形进行分组分析。结果 69例鼻骨发育异常胎儿中,鼻骨缺失24例,其中合并畸形7例;鼻骨短小45例,其中合并畸形13例,鼻骨缺失与鼻骨短小合并畸形发生率差异无统计学意义(P>0.05)。41例进行染色体核型分析,单纯性鼻骨发育异常32例,其中染色体异常4例;鼻骨发育异常合并畸形9例,其中染色体异常7例,鼻骨发育异常合并畸形染色体异常发生率明显高于单纯鼻骨发育异常染色体异常发生率,差异有统计学意义(P<0.05)。单纯鼻骨发育异常进行染色体检查胎儿32例,染色体异常4例,其中单纯鼻骨缺失9例,染色体异常1例;单纯鼻骨短小23例,染色体异常3例,单纯鼻骨缺失与单纯鼻骨短小染色体异常发生率差异无统计学意义(P>0.05)。结论鼻骨发育不良合并畸形对染色体评估有重要意义,鼻骨缺失与鼻骨短小在合并畸形及染色体异常方面无明显差异。

Purpose To explore the difference of prenatal ultrasound in the diagnosis of absence of nasal bone and short nasal bone in fetuses. Materials and Methods The clinical data of 23 131 pregnant women who received prenatal ultrasound system screening in the second trimester in the Third Affiliated Hospital of Zhengzhou University from August 2015 to July 2016 were analyzed retrospectively. The fetuses with absence of nasal bone and short nasal bone as well as the types of complicated malformation were recorded respectively, among whom those with chromosomal examination had their chromosomal results recorded. The fetuses were grouped for analysis based on absence of nasal bone, short nasal bone and whether they were complicated with malformation. Results Sixtynine fetuses had abnormal development of nasal bone, among whom 24 cases had absence of nasal bone（7 cases were complicated with malformation） and 45 cases had short nasal bone（13 cases were complicated with malformation）, but there was no significant difference in the ratio of complicated malformation between fetuses with absence of nasal bone and those with short nasal bone（P〉0.05）. Of the 41 cases with analysis of chromosomal karyotypes, 32 cases had single abnormal development of nasal bone（4 cases had chromosomal abnormality） and 9 cases had abnormal development complicated malformation of nasal bone（7 cases had chromosomal abnormality）, and the occurrence rate of chromosomal abnormality in abnormal development complicated malformation of nasal bone was notably higher than that in single abnormal development of nasal bone（P〈0.05）. A total of 32 fetuses with single abnormal development of nasal bone received chromosomal examination, among whom 4 cases had chromosomal abnormality. Of the 32 fetuses, 9 cases had single absence of nasal bone（one had chromosomal abnormality） and 23 cases had single short nasal bone（3 cases had chromosomal abnormality）. However, there was no significant difference in the ratio of chromosomal abnormality between fetuses with single absence of nasal bone and those with single short nasal bone（P〉0.05）. Conclusion Abnormal development complicated with malformation of nasal bone is of great significance in the evaluation of chromosomes. And there is no significant difference in the ratios of complicated malformation and chromosomal abnormality between fetuses with absence of nasal bone and those with short nasal bone.