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随着人们对染色体病危害的不断认识及国家对出生缺陷的高度重视,在产前对某些遗传性,先天性疾病的早期发现与诊断,成为全人类共同关注的话题。在现有技术条件下,我们对遗传病、先天性疾病的早期诊断与治疗尚无更好的方法,但就染色体病而言,羊水细胞培养染色体核型分析仍是产前诊断的主要手段之一。本文816例羊水核型分析中,发现异常核型19例:其中21-三体12例、平衡易位5例、XXX综合征1例、46,XY女性表型1例;全部异常病例经脐血穿刺术进行染色体核型分析证实,无1例误诊。说明了羊水细胞培养染色体核型分析在产前诊断中的重要作用。
With people’s continuous understanding of the dangers of chromosomal diseases and the national attention to birth defects, early detection and diagnosis of some hereditary and congenital diseases during the prenatal period have become the topics of common concern to all mankind. In the current state of the art, we have no better way of early diagnosis and treatment of genetic and congenital diseases, but in terms of chromosomal diseases, chromosomal karyotype analysis of amniotic fluid cell culture is still the main method of prenatal diagnosis one. In this paper, 816 cases of amniotic fluid karyotype analysis found that 19 cases of abnormal karyotype: 21 cases of which 12 cases of trisomy, 5 cases of equilibrium translocation, 1 case of syndrome XXX, 46, XY female phenotype in 1 case; all cases of abnormalities through the navel Blood puncture karyotype analysis confirmed that no cases of misdiagnosis. Explain the important role of amniotic fluid cell chromosome karyotype analysis in prenatal diagnosis.