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目的通过儿童的染色体核型结果分析,统计出生缺陷情况,采取有效措施,预防新生儿缺陷的出生,提高分娩质量。方法 2014年1月1日至2015年10月31日,对前来我院遗传门诊就诊的1689例儿童做染色体检查,细胞遗传学检查方法:常规外周血淋巴细胞培养,制备染色体G显带标本,分析核型。结果 1689例儿童外周血中共检出非多态性染色体异常228例,异常率13.5%(228/1689),其中21-三体184例,特纳综合征20例,其余为染色体增加、染色体缺失、性反转等。结论我院儿童染色体核型异常检出率高,尤其是21-三体综合征,给社会和家庭带来重大负担,因此,做好产前诊断极为重要。
Objective To analyze the result of children’s karyotype analysis and statistics of birth defects and to take effective measures to prevent the birth of newborn’s defects and improve the quality of delivery. Methods From January 1, 2014 to October 31, 2015, 1689 children who came to the genetic clinic of our hospital for chromosomal examination, cytogenetic examination methods: conventional peripheral blood lymphocyte culture, preparation of chromosome G banding specimens , Analysis of karyotype. Results A total of 228 cases of non-polymorphism chromosomal abnormalities were detected in 1689 children. The abnormality rate was 13.5% (228/1689), including 184 cases of 21-trisomy, 20 cases of Turner’s syndrome and the rest of the chromosomes increased, , Sexual inversion and so on. Conclusion The detection rate of chromosomal abnormalities in children in our hospital is high, especially in the trisomy 21, which brings great burden to society and families. Therefore, it is very important to make prenatal diagnosis.