486例异常胎儿染色体核型综合分析

Comprehensive analysis on 486 fetuses with abnormal chromosomal karyotypes

目的:通过对产前彩超检查出的异常胎儿进行脐血染色体分析,了解胎儿异常与染色体异常的关系。方法:选择2006年1月～2010年1月在临沂市沂水中心医院产前检查的孕妇,行彩超检查出异常胎儿行引产或分娩,引产前或分娩后抽羊水和脐带血行染色体检查,在显微镜下观察染色体的结构和数量。共486例培养成功,记录染色体异常胎儿的发病时间。结果:486例异常胎儿共查出染色体异常65例,39例数目异常,26例结构异常。65例中21-三体占多数,胎儿染色体异常的发生率与孕妇年龄呈正相关。B超显示轻度畸形,染色体检查确认为21-三体。结论:随着孕妇年龄的增长,胎儿异常及胎儿染色体异常发生率逐渐增加。判定胎儿畸形与染色体异常是否有联系时,畸形的数量、类别、严重程度,胎儿能被超声检查出的时间是重要的参考依据。当临床上B超显示轻度畸形应采集脐血检查排除21-三体。

Objective： To understand the relationship between fetal abnormality and chromosomal abnormality by conducting chro- mosomal analysis of umbilical cord blood in abnormal fetuses found by prenatal ultrasonography. Methods： The pregnant women who re- ceived prenatal examination in the hospital from January 2006 to January 2010 were selected, then the abnormal fetuses detected by color ul- trasonography underwent induced abortion or delivery, amniotic fluid samples and umbilical cord samples were obtained before induced abor- tion or after delivery for chromosomal examination, chromosomal structure and number were observed under microscope. A total of 486 cases were cultured successfully, the onset times of fetuses with chromosomal abnormality was recorded. Results ： Among 486 abnormal fetuses, 65 fetuses were found with chromosomal abnormality, including 39 fetuses with chromosomal numerical abnormality and 26 fetuses with chromo- somal structural abnormality. The fetuses with trisomy 21 were in the majority among 65 fetuses, there was a positive correlation between the incidence of chromosomal abnormality of fetuses and maternal age. The result of ultrasonography was mild malformation in the fetuses who were diagnosed as trisomy 21 definitely by chromosomal examination. Conclusion： The incidences of fetal abnormality and fetal chromosomal abnormality increased gradually with maternal age. When to judge there is correlation between fetal abnormality and chromosomal abnormality or not, the important references included the number, type, degree of malformations, and the detection time with uhrasonography. Trisomy 21 should be excluded bv umbilical cord blood examination when the result of ultrasonoaraphv is mild malformation.