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目的分析怀疑染色体异常新生儿的细胞遗传学检测结果,为倡导优生优育提供科学依据。方法选择2014年6月至12月在我中心进行细胞遗传学检查的新生儿,分析异常核型分布情况。抽取0.1ml、0.2ml、0.3ml、0.4ml外周血接种于4瓶外周血培养基中,制备染色体G显带标本,分析核型。结果送检700例新生儿中,染色体异常检出率47.57%(333/700),涉及异常核型34种。检出21-三体综合征302例,占染色体异常的90.69%。结论我中心新生儿染色体异常核型检出率高,与我中心有庞大的数据库优势和改良新生儿接种方法有关。21-三体综合征是新生儿主要异常核型,产前筛查意义重大。
Objective To analyze the results of cytogenetic test in neonates with suspected chromosomal abnormalities and provide scientific evidence for promoting prenatal and postnatal care. Methods Neonates with cytogenetics at our center from June to December 2014 were selected to analyze the distribution of abnormal karyotypes. Extracted 0.1ml, 0.2ml, 0.3ml, 0.4ml of peripheral blood were inoculated into 4 bottles of peripheral blood medium to prepare chromosome G banding specimens, karyotype analysis. Results Among 700 newborns, the detection rate of chromosomal abnormalities was 47.57% (333/700), involving 34 abnormal karyotypes. Detected 302 cases of 21-trisomy syndrome, accounting for 90.69% of chromosomal abnormalities. Conclusion The detection rate of chromosomal abnormal karyotype in our center is high, which is related to the huge database advantage and the improved neonatal inoculation method in our center. 21-trisomy syndrome is the main abnormal neonatal karyotype, prenatal screening of great significance.