胎儿鼻骨缺失与染色体异常的相关研究

目的:分析胎儿鼻骨缺失与染色体异常之间的关系。方法:选取广州市第十二人民医院妇产科2009年1月～2011年12月80例经产前超声检查发现胎儿鼻骨部位回声异常的孕妇作为研究对象,观察并记录胎儿鼻骨缺失和异常的胎儿,记录胎儿在孕中期时超声检测各个矢状位的特征。并在产前对胎儿的脐带血或羊水中的细胞核进行检验,记录各个胎儿染色体情况,根据记录患儿的各项数据,进行胎儿鼻骨缺失与染色体异常的相关研究。结果:胎儿鼻骨缺失与染色体异常具有密切的相关性,且孕中期用超声观察和测量鼻骨长度和鼻骨角度是胎儿染色体非整倍体异常和染色体片段异常的重要指标。结论:胎儿鼻骨缺失与染色体异常具有密切关系,可以根据孕中期胎儿成像特点来判断胎儿染色体异常。

Study on correlation between fetal nasal bone deletion and chromosome abnormality

Objective:To analyze the correlation between fetal nasal bone deletion and chromosome abnormality. Methods:At gynaecology and obstetrics department of the Twelfth People's Hospital of Guangzhou city,80 cases of pregnant women from January 2009 to December 2011,whose fetuses were found ultrasonic anomalies at nasal bone parts,were selected and observed,fetal nasal bone deletion,abnormal fetuses and the characteristics of sagittal views of the fetus in ultrasonic testing during the second trimester were recorded.Prenatal testing of nucleus in umbilical cord blood and amniotic fluid were performed to record the information of fetal chromosome.The correlation between fetal nasal bone deletion and chromosome abnormality was analyzed according to the records. Results:Fetal nasal bone deletion and chromosomal abnormalities had a close correlation,length and angle of the nasal bone in ultrasonic testing during the second trimester were important indicators of fetal aneuploid chromosomal abnormalities and abnormal chromosome fragment. Conclusion:Fetal nasal bone deletion and chromosome abnormality are closely connected.