416例染色体病高危新生儿脐血染色体核型分析

The chromosome karyotype analysis of 416 newborns umbilical blood

目的探讨染色体异常与新生儿特殊面容、先天畸形、胎儿生长受限等表型的关系。方法选取2007年1月至2014年6月期间在北京市海淀区妇幼保健院出生、疑似染色体异常的416例新生儿,行脐血染色体核型分析。2例标本进行了SNP-Array基因芯片分析以确定区带,明确诊断。结果 (1)416例新生儿中特殊面容21例、先天畸形74例、单纯唐筛高风险97例、宫内发育迟缓5例、孕期提示超声软指标36例、单纯高龄87例、其他96例。(2)416例新生儿中共检出36例异常核型,检出率为8.7%。数目异常23例,占63.9%(23/36),其中21三体20例;结构异常11例,占30.6%(11/36);数目合并结构异常2例,占5.6%(2/36)。(3)染色体异常按检出率从高到低依次为特殊面容61.9%、先天畸形18.9%、孕期提示超声软指标8.3%、其他3.1%、单纯高龄2.3%,单纯唐筛高风险1.03%,宫内发育迟缓并未检出异常。结论染色体异常与某些临床特征,新生儿表型密切相关。利用新生儿的脐带血进行染色体核型分析可对染色体病高危患儿尽早做出诊断,为早期干预提供指导。

Objective：To investigate the relationship between newborns′ chromosome abnormalities and their phenotypes such as specific facial features,congenital malformation,fetal growth restriction,etc. Methods：The umbilical cord blood of 416 newborns were analyzed with the method of conventional peripheral blood lymphocytes culture and G-banding karyotyping. 2cases were analyzed by SNP-Array to definitive diagnosis the bands of abnormal chromosome. Results：37 cases of chromosomal abnormalities were detected in 416 cases of newborns（8.7%）. There were 23 cases（63.9%）with the numerical abnormalities,most of which were Down syndrome,11 cases（30.6%） with the structural abnormalities,and 2 cases（5.5%） with structural and numerical combined abnormalities. All groups whose incidence sorted from high to low are Down-Syndrome-like facial characters（61.9%）,Congenital malformation（18.9%）,Ultrasound soft marks（8.3%）,Other indications（3.1%）,Simply advanced age（≥35）（2.3%）,Simply-high-risk of maternal serum screening（1.03%）.There was no chromosomal abnormalities detected in group of Fetal growth restriction. Conclusion：Chromosome abnormalities of newborns were closely related to some clinical indications and phenotypes. Those can be diagnosed as early as possible by umbilical cord blood chromosome examination,so that doctors can provide guidance to early intervention.