新生儿细胞遗传学检测357例结果分析

目的分析怀疑染色体异常新生儿的细胞遗传学检测结果，为优生优育提供科学依据。方法选择2010年4月至2011年10月在浙江大学医学院附属儿童医院进行细胞遗传学检查的新生儿，分析不同送检原因异常核型检出率及异常核型分布情况。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。结果研究期间共送检怀疑染色体异常新生儿标本357例，染色体异常检出率24．93％（89／357），涉及异常核型25种。检出率排名前三位的送检原因为可疑先天愚型、先天性心脏病及泌尿生殖系统畸形。检出21三体综合征58例，占染色体异常的65．17％。结论我院新生儿染色体核型异常检出率高，检出率差异与送检原因有关。21三体综合征是新生儿时期最常见的染色体异常。

Cytogenetic analysis of 357 children with suspected karyotype anomalies

Objective To provide information for prenatal and postnatal care, cytogenetic studies were performed on 357 neonates with suspected anomalies clinically. Methods Peripheral blood lymphocytes of the neonates were collected for cytogenetic studies, G- banding analysis was used in our laboratory and abnormal karyotype was identified according to the International System for Cytogenetie Nomenclature （ISCN） 1995. Results Total of 25 karyotype were detected among 25.0% （89/357） of the patients, with Down syndrome, congenital heart disease and urogenital malformations as three main suspected clinical diagnosis. 58 （65.2%, 58/89 ）. cases were confirmed as Down syndrome cytogenetically. Conclusions The detection rate of abnormal karyotype in our hospital is quite high, which could be attributed to the sample resource. Down syndrome represents the most common chromosome abnormality found in the newborns during the study period.