先天异常新生儿的细胞遗传学分析及听力筛查研究

Cytogenetic analysis and hearing screeningstudy of congenital abnormality newborns

目的研究先天异常新生儿的染色体核型分析及听力筛查等临床特点。方法对115例先天异常新生儿进行染色体核型分析,根据染色体核型分为正常核型组和异常核型组,对两组进研究。结果 115例先天异常新生儿中正常染色体核型64例,异常核型51例,异常检出率44.35%。异常核型中21三体综合征38例,占74.51%。异常核型组听力筛查通过率明显低于正常核型组。结论 21三体综合征是先天异常新生儿中发病率最高、危害最严重的染色体病,染色体核型异常患儿存在明显的听力障碍。积极开展染色体病产前诊断,及时采取干预措施是减少先天异常新生儿出生的必要措施。

Objective： To analyze the congenital abnormality newborns＇ karyotype analysis and hearing screening in clinical characteristics, etc. Methods： 115 abnormality congenital neonates were examined with peripheral blood karyotype analysis. They were divided into normal karyotype group and abnormal karyotype group based on examination results in the clinical controlled study. Results： Normal karyotype was detected in 64 abnormality congenital newborns, abnormal karyotype was 51, which abnormal karyotype accounted for 44. 35 percentage. In the abnormal karyotype group, Down＇s syndome 38, accounted for 74. 51 percentage. The pass rate of the hearing screening in abnormal karyotype group was significantly less than normal karyotype group. Conclusions： Down＇s syndome was one of the most harmful chromosome disease with highest morbidity. The heating disorder was very obvious in this group. So positive chromosome disease＇s prenatal diagnosis and intervening measure in season were required to reduce congenital anomaly birth.