孕中晚期胎儿细胞遗传学的诊断分析

Diagnostic Analysis of Cytogenetics of Fetuses in the Second and Third Trimester of Pregnancy

目的通过了解胎儿染色体异常类型、频率与手术指征的关系,探讨胎儿染色体病的发生情况。方法选择2003—2011年我院的1 956例具有产前诊断指征的孕中晚期孕妇羊水及脐血细胞进行培养,制备分裂中期细胞染色体,常规G显带分析核型,分析胎儿染色体核型异常的类型、检出率。结果 1 956例病例细胞培养成功1 945例,羊水培养成功率99.8%,脐血培养成功率98.8%;胎儿染色体异常74例(3.8%);染色体异态性101例(5.2%);74例染色体异常病例中,终止妊娠58例(78.4%);手术相关妊娠丢失率0.1%。结论对高危孕妇进行胎儿细胞遗传学检查,能提高染色体病检出,有效控制出生缺陷的发生率。

Objective To explore the relationship of types and frequencies of abnormal karyotypes to prenatal diagnosis indicators, to find the occurrence of fetal chromosome diseases. Methods Amniotic fluid and umbilical cord blood （UCB） were cultured to prepare metaphase chromosome in 1 956 pregnant women in second and third trimester of pregnancy. G - ban-ding was used to analyze karyotyses. Results A total of 1 945 （99. 4% ） were successfully cultured from 1 956 cases. The success rate of amniotic fluid culture was 99. 8% , that of UCB was 98.8% ; 74 cases had chromosomal abnormalities （3.8%） ; 101 had chromosomal heteromorphism （ 5.2% ）. In 74 cases of chromosomal abnormalities, 58 had termination of pregnancy （ 78. 4% ）. The procedure - related pregnancy loss rate was 0. 1%. Conclusion Invasive eytogenetic diagnosis can improve de-tection rate of chromosomal diseases and control effectively the incidence of birth defects in high - risk pregnant women.