产前诊断中胎儿新发生染色体异常的临床结局分析  

Analysis of clinical outcomes for prenatal diagnosis of occurrence of chromosomal abnormalities for new babies

作　　者：郭化山[1] 陈曼萍[1] 吴来春[1] 

机构地区：[1]江西医学院上饶分院生物遗传教研室,江西上饶334000

出　　处：《现代预防医学》2012年第13期3230-3231,共2页Modern Preventive Medicine

摘　　要：目的分析产前诊断中胎儿新发生染色体异常的临床结局。方法对某院1997年1月～2009年12月1346例产前诊断细胞染色体核型分析发现的6例新发生的胎儿染色体异常病例进行分析,观察6例新发生的胎儿染色体异常病例的细胞遗传学检测结果、产前超声检查结果及妊娠结局。结果 6例新发生染色体异常的胎儿中,非平衡性染色体异常4例,占66.7%;2例平衡性染色体异常,占33.3%;4例非平衡染色体异常的胎儿中有2例选择引产终止妊娠,有1例足月分娩,1例出生后失访。足月分娩者随访至2周岁发现语言功能发育迟缓。2例平衡性染色体异常的胎儿均足月分娩,出生后随访未发现异常。结论新发生染色体异常的胎儿表型可通过详细的染色体核型分析以及进一步的分子细胞遗传学检测所提供的染色体成分进行预测,产前超声结构畸形检查可为妊娠结局的评估提供有力的参考依据。OBJECTIVE To analyze the clinical outcomes for prenatal diagnosis of occurrence of chromosomal abnormalities for new babies.METHODS 6 cases of chromosomal abnormalities were found in the 1 346 cases of prenatal diagnosis of chromosomal karyotype from January 2007 to December 2009.Observed the cytogenetic result of fetal chromosomal abnormalities,prenatal ultrasound findings and pregnancy outcome were taken for analysis in the 6 new cases.RESULTS There were 4 cases with unbalanced sex chromosome abnormalities,accounting for 66.7%.There were 2 cases of balanced chromosomal abnormalities,accounting for 33.3%.There were 2 cases of terminal pregnancy through induced abortion in the 4 cases of unbalanced chromosome abnormalities,among whom 1 case of term delivery,1 case of losing follow-up,the former was found with delayed development in language.2 cases of balanced chromosomal abnormalities had term delivery,in follow-up after birth,there were no abnormalities.CONCLUSION The fetal phenotype of new chromosomal abnormalities can be predicted by analysis of detailed karyotype and further molecular cytogenetic detection of chromosome composition provided by the structural abnormalities.The prenatal ultrasound examination can provide a strong reference basis for the assessment of pregnancy outcomes.

关 键 词：胎儿新发生染色体异常 产前诊断 结局 

分 类 号：R722.11[医药卫生—儿科]