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目的通过对妊娠中、晚期高危孕妇羊水细胞及脐血染色体的核型分析,进行胎儿染色体病的产前诊断,了解胎儿染色体异常发生情况及与各种产前诊断指征的关系。方法对2001年～2009年来我院遗传门诊就诊的456例符合产前诊断指征的妊娠中晚期孕妇进行羊膜腔穿刺术或脐血管穿刺术抽取羊水或脐带血进行染色体核型分析。结果在456例孕妇中发现27例染色体异常,占5.92%,数目异常16例(59.26%),其中21-三体7例,18-三体6例,13-三体1例;结构异常11例(40.74%),包括平衡易位6例,倒位4例,缺失1例。结论染色体三体型是妊娠中晚期最常见的染色体病,孕中期母血清学筛查和胎儿系统超声检查可提高胎儿染色体病的产前诊断率。
OBJECTIVE: To determine the prenatal diagnosis of fetal chromosomal diseases by analyzing the karyotypes of amniotic fluid cells and umbilical blood chromosomes in pregnant women with high-risk pregnancies, and to understand the relationship between fetal chromosomal abnormalities and various prenatal diagnosis indications. Methods A total of 456 pregnant women with prenatal diagnosis indications for antenatal diagnosis in our hospital from 2001 to 2009 were subjected to amniocentesis or cord blood by amniocentesis or umbilical cord aspiration for chromosome karyotype analysis. Results There were 27 cases of chromosomal abnormalities (5.92%) in 456 pregnant women, the number of which was abnormal in 16 cases (59.26%), including 21 cases of trisomy 21, 6 cases of trisomy 18 and 1 case of 13-trisomy. Cases (40.74%), including the equilibrium translocation in 6 cases, 4 cases of inverted and 1 case of missing. Conclusion Chromosomal trisomy is the most common chromosomal disease in the second trimester of pregnancy. Maternal serological screening and fetal ultrasound can improve prenatal diagnosis of fetal chromosomal diseases.