新生儿先天性畸形伴染色体异常56例分析

Analysis of 56 congenital malformed neonates with Chromosomal abnormal

目的研究新生儿先天性畸形的临床与染色体异常核型特征,为提高产前诊断提供依据。方法采用常规外周血培养及制备染色体,G显带核型分析。结果 56例先天性畸形中,染色体异常以21-三体最为多见(40例占71.43%),其次有18-三体及13-三体,同时还发现一些罕见的染色体异常。临床上,常以特殊面容表现最为突出,同时先心、唇腭裂等较严重畸形在三体型中较为常见。结论染色体异常所致胎儿特殊异常表现,重点心血管,唇腭裂检查是提高产前诊断检出染色体异常的重要依据。

Objective：To investigate the clinical manifestations of neonates and characteristics of its chromosomal abnormal so as to supply reference for prenatal diagnosis.Methods：Chromosome preparations were made from peripheral blood lymphocytes.Karyotypes were analyzed by G-banding technique.Results：Among 56 cases,40 cases were found having trisomy 21（71.43%）,others were trisomy 18,trisomy 13 and infrequent chromosomal abnormal.The patients mainly presented unusual appearance,congenital heart disease and cheilopalatognathus.Conclusion：Examination of cardiovascular diagnosis and cheilopalatognathus can enhance prenatal diagnosis for Chromosomal abnormal.