孕中晚期取脐血制作染色体的临床应用

CLINICAL APPLICATION OF CHROMOSOMES PREPARATION USING CORD BLOOD DURING THE SECOND TRIMESTER OF PREGNANCY

目的 :研究染色体病的产前诊断。方法 :对不同原因产前咨询的 2 78例孕妇于孕中期B超监测下采取脐血 ,其中 68例制作染色体行核型分析。结果 :68例中 7例为异常核型 ,分别为 4 6,XY ,2 1P +,4 6,XX ,t( 1;4 ) ( q4 4 ;q2 5) ;4 7,XX ,+2 1及 4例 4 6,X ,Yq +。 结论 :于孕中晚期采取脐血制作染色体 ,具有周期短、染色体形态好及成功率高等优点 ,可获取供临床诊断有价值的结果 ,对于有遗传病家族史、畸形胎儿分娩史。

Objective:To study the prenatal diagnosis of chromosome abnormalities.Methods:Chromosomes were prepared in 68 patients using cord blood by cordocentesis during the second trimester of pregnancy from 1989 to 1999 year.Results:Abnormal karyotypes were found in 7 patients.They wer 46,XY,21P+,46,XX,t(1;4)(q44;q25);47,XX,+21 and 4 cases 46X,Yq+.Conclusion:Cytogenetic analysis of fetal blood samples appears to be effective,rapid and reliable to establish the fetal karyotype in selected cases.No other methods can replace its use to patients with abnormal family or gestation history.