胎儿超声结构畸形与染色体微阵列分析的相关性

Correlation Between Ultrasonic Structural Malformation and Chromosomal Microarray Analysis

目的探讨胎儿超声结构畸形与染色体微阵列分析(CMA)的相关性,为建立胎儿畸形的产前诊断流程提供可靠依据。资料与方法对南京医科大学附属妇产医院产前超声筛查的结构畸形孕妇104例行CMA检测,按结果分为致病组、Vous(临床意义不明的染色体拷贝数的微缺失和微重复)组和正常组,比较超声与CMA结果。结果致病组15例(14.42%),其中非整倍体胎儿9例,微缺失或微重复胎儿6例;Vous组28例(26.92%),正常组61例(58.65%)。致病组有12例为2个及以上系统的畸形,最多见的为复杂性先天性心脏病(9例),其次为鼻骨缺失(4例);正常组与Vous组则多为单系统的畸形,3组间差异有统计学意义(χ~2=17.34,P<0.01)。17例高危孕妇中有4例为致病性染色体异常。结论产前咨询中,如超声发现胎儿有2个及以上系统的结构畸形,畸形种类中有复杂性先天性心脏病、鼻骨缺失合并其他部位畸形,高危孕妇合并胎儿结构畸形者均应建议行CMA检测以排除致病性染色体异常。

Purpose To discuss the correlation between ultrasonic structural malformation and chromosomal microarray analysis（CMA） to provide a reliable basis for establishment of a prenatal diagnosis process of fetal malformation. Materials and Methods 104 pregnant women with structural malformation, who received prenatal ultrasonic screening in Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, were subjected to CMA detection. According to the results, they were divided into pathogenic group, Vous group and normal group, and the ultrasonic results and CMA results were compared and analyzed. Results Fifteen cases（14.42%） in the pathogenic group, including 9 cases of fetal aneuploidy, and 6 cases of microdeletion or mirco repetitive fetuses; 28 cases（26.92%） in the Vous group and 61 cases（58.65%） in the normal group. There were 12 cases of two or more systems of deformity in the pathogenic group, in which the most common was complex congenital heart disease（9 cases）, followed by nasal bone loss（4 cases）; in the normal group and Vous group, most were single-system malformation, and the difference among three groups was statistically significant（χ~2=17.34, P〈0.01）. There were 4 cases of pathogenic chromosomal abnormalities in the 17 cases of high risk pregnant women. Conclusion In prenatal counseling, if the fetus is found to have the malformation of two or more systems; the malformation variety contains complex congenital heart disease, nasal bone loss or malformation of other parts; high risk pregnant women combined with fetal structural malformation should be proposed to receive CMA detection to eliminate pathogenic chromosomal abnormalities.