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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 understand the relationship between the type and frequency of fetal chromosomal abnormalities and surgical indications and to investigate the occurrence of fetal chromosomal diseases. Methods A total of 1 956 pregnant women with prenatal diagnosis indications for prenatal diagnosis in our hospital from 2003 to 2011 were selected to culture amniotic fluid and umbilical cord blood cells. Chromosomes of metaphase cells were prepared. Conventional G-banding karyotypes were analyzed. Abnormal fetal karyotypes were analyzed The type of detection rate. Results A total of 1 955 cases were successfully cultured in 1 956 cases, the success rate of amniotic fluid culture was 99.8%, the success rate of cord blood culture was 98.8%, fetal chromosomal abnormalities were 74 cases (3.8%), chromosome abnormalities were 101 cases (5.2%), 74 cases Chromosomal abnormalities in 58 cases of termination of pregnancy (78.4%); surgery related pregnancy loss rate of 0.1%. Conclusion Fetal cytogenetic examination of high-risk pregnant women can improve the detection of chromosome disease and effectively control the incidence of birth defects.