目的 应用外周血染色体培养/核型分析技术对 20 例有胎儿生长受限(fetal growth restriction,FGR)史的新生儿进行外周血染色体培养及核型分析,寻求与遗传学相关的致病因素。方法 收集2012年1月-2014年6月到本院新生儿科初步诊断为FGR的患儿 20 例,应用外周血常规接种、培养、制片及G带分析。结果 20例FGR胎儿出生后外周血染色体检测共检测出10例染色体异常,其中21-三体5例,18-三体1例,染色体结构异常 4例。结论 在FGR的致病因素中,染色体结构畸变和数目异常是导致胎儿宫内生长受限的致病因素之一,获得不论有无躯体畸形的发育迟缓的儿童的染色体信息十分必要,可为患儿预后和早期干预提供有效而准确的咨询。
Abstract
Objective To seek related genetic pathogenic factors by cytogenetic analysis in 20 infants with fetal growth restriction (FGR).Methods A total of 20 FGR infants were recruited in Wuhan Maternal and Children Health Care Center from January 2012 to June 2014.The samples of the peripheral blood lymphocytes were prepared with routine cytogeneticMethods ,G-banding was employed for karyotype analysis. Result Cytogenetic analysis revealed 10 cases with chromosomal abnormalities,5 cases of Down's syndrome,1 case of Edward's syndrome,4 cases of chromosome structural abnormalities.Conclusion s Chromosome aberrations related to the fetal growth restriction.It is suggested that more chromosomal information of FGR infants should be acquired,it benefits for early management and intervention of genetic diseases.
关键词
宫内生长受限 /
细胞遗传学 /
新生儿
Key words
fetal growth restriction /
cytogenetics /
infant
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参考文献
[1] 乐杰.妇产科学 [M].5版.北京:人民卫生出版社,2004:155-160.
[2] 陈梦捷,张晓红,黄振宇,等.有无母体合并症及并发症的胎儿生长受限临床对比分析[J].实用妇产科杂志,2013,29(2):115-119.
[3] 王珺,王立文.1329例精神发育迟滞/迟缓患儿临床分析与病因研究[J].临床儿科杂志,2010,28(5):450-454.
[4] 吴星,胡娅莉.分子核型分析与产前诊断[J].中华围产医学杂志,2012,15(1):51-55.
[5] Miller DT,Adam Mp,Aradhya S,et al.Consensus statement:chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities for congenital anomalies[J].Am J Hum Genet,2010,86(5):749-764.
[6] 张丽娜,梁立阳,孟哲,等.应用微阵列比较基因组杂交技术对55例智力低下/发育迟缓患儿基因组拷贝数变异的分析[J].中国儿童保健杂志,2014,22(8):795-798.
[7] Gratacós E,Figueras F.Fetal growth restriction as a perinatal and long-term health problem:clinical challenges and opportunities for future(4P) fetal medicine[J].Fetal Diagn Ther,2014,36(2):85-95.
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