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目的了解胎儿染色体异常核型种类与产前诊断指征的关系,探讨胎儿染色体病的发生情况,并为遗传咨询与产前诊断提供依据。方法对符合产前诊断指征的6 410例孕妇进行羊膜腔穿刺,取羊水进行细胞培养、制备中期染色体,常规G显带,分析胎儿核型。结果 6 410例孕妇羊水标本中,检出胎儿染色体异常256例。其中,常染色体异常205例,占异常总数的80.1%;性染色体异常51例,占异常总数的19.9%。常染色体与性染色体异常核型均以数目异常为多见,分别为167例和44例,占81.5%和86.3%。结论产前染色体核型分析是减少染色体异常患儿出生的有效方法。
Objective To understand the relationship between fetal karyotypes and prenatal diagnosis indications, investigate the occurrence of fetal chromosomal diseases and provide evidence for genetic counseling and prenatal diagnosis. Methods A total of 6 410 pregnant women who met the criteria of prenatal diagnosis were subjected to amniocentesis. Amniotic fluid was used for cell culture to prepare metaphase chromosomes and conventional G banding. The fetal karyotypes were analyzed. Results In 6 410 cases of pregnant women with amniotic fluid samples, 256 cases of fetus chromosomal abnormalities were detected. Among them, 205 cases of an autosomal abnormalities accounted for 80.1% of the total number of anomalies; 51 cases of chromosomal abnormalities, accounting for 19.9% of the total number of anomalies. Anomalous karyotypes of autosomal and sex chromosome abnormalities are more common, respectively, 167 cases and 44 cases, accounting for 81.5% and 86.3%. Conclusion Prenatal chromosome karyotype analysis is an effective method to reduce the birth of children with chromosomal abnormalities.