176例超声诊断结构异常胎儿的脐血染色体核型分析

Chromosomal karyotype analysis in cord blood of 176 abnormal fetus diagnosised duringprenatal ultrasonography

目的探讨对超声诊断结构异常胎儿进行脐血染色体核型分析的意义。方法选择我院因产前超声诊断胎儿结构异常而自愿行介入性产前诊断的孕妇176例,行脐静脉穿刺,分析脐血细胞染色体核型。结果脐静脉穿刺成功率为98.86%,脐血细胞培养率为100%。确诊染色体异常胎儿18例(10.23%),其中21-三体综合征6例,18-三体综合征7例,13-三体综合征2例,Turner综合征1例,三体征1例,染色体易位1例。结论对超声诊断结构异常胎儿进行介入性产前诊断,可以明确是否为染色体异常疾病,有重要的临床意义;脐静脉穿刺因其对母儿风险小,操作简便,且不受妊娠时间的限制而具有重要意义。

Objective： To investigate the value of chromosomal karyotype analysis in cord blood of fetus, which were discovered structural abnormalities during ultrasound diagnosis. Methods： Cordocenteses guided by transabdominal ultrasound were performed on 176 pregnant women in our hospital because the diagnosis of fetal structure exceptions discovered during prenatal ultrasonography, and fetal chromosomal karyotypes were examined. Results ： The success rate of cordocenteses was 98. 86%, and chromosomal karyotype analysis was succeed in all of them. 18 cases confirmed chromosomal abnormalities fetus, with 21 -trisome syndrome 6 cases, 18 - trisome syndrome 7 cases, 13 - trisome syndrome 2 cases, Turner syndrome 1 case, triploid 1 case, chromosome translocation 1 case. Conclusion： The interventional prenatal diagnosis on structural abnormalities fetus discovered during ultrasound, can confirm whether the chromosome abnormality disease happen. This have important clinical significance; Because of the low risk to both of mother and the fetus, easy operation as well as not subject to the pregnancy time, the cordocentesis is worth well.