浙江省48600例新生儿脐带血染色体核型分析  

Karyotype analysis of umbilical cord blood staining in 48600 newborns in Zhejiang Province

作　　者：饶伟强 张燕 吴莉莉 周红 杨晓丹 叶建霞 RAO Wei-qiang;ZHANG Yan;WU Li-li;ZHOU Hong;YANG Xiao-dan;YE Jian-xia(Reproductive Genetics Laboratory,Hangzhou Adicon Medical Laboratory Co.,LTD.,Hangzhou 310030,China)

机构地区：[1]杭州艾迪康医学检验中心有限公司生殖遗传实验室,浙江杭州310030

出　　处：《中国优生与遗传杂志》2020年第4期442-443,447,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的统计浙江省新生儿脐带血染色体核型异常发生率,了解浙江省出生缺陷发生情况及探讨开展新生儿脐带血染色体检测的临床意义。方法收集48?600例新生儿肝素钠抗凝脐带血,并进行淋巴细胞培养,利用G显带制备染色体样本,依据ISCN 2016对染色体核型进行分析诊断。结果在48?600例新生儿脐带血染色体核型中,染色体培养制片成功48597例,失败3例,检出染色体异常373例,发生率为7.68‰,其中染色体结构异常247例(5.08‰)、染色体数目异常126例(2.59‰);染色体多态性变化1567例,发生率为32.24‰。结论染色体病是影响出生人口素质和胎儿死亡的主要原因,新生儿脐带血染色体检测,对目前产前诊断不足具有很好的补充,对患儿染色体异常早发现、早诊断、早治疗具有重要的价值,对家庭遗传咨询、再生育临床指导及出生缺陷二级预防有着重要意义。Objective:To analyze the incidence of chromosomal abnormalities in newborn umbilical cord blood in Zhejiang province,comprehend the incidence of birth defects in Zhejiang province and discuss the clinical significance of umbilical cord blood chromosome testing in newborn babies.Methods:48600 neonates with heparin sodium anticoagulant umbilical cord blood were collected,lymphocytes were cultured,chromosome samples were prepared by G banding,and chromosome karyotypes were analyzed and diagnosed according to ISCN 2016.Results:Among 48600 cases of neonatal cord blood chromosome karyotypes,48597 cases were successfully cultured,3 cases were failed,and 373 cases of chromosome abnormalities were detected,with an incidence of 7.68‰.Among them,247 cases(5.08‰)had abnormal chromosome structure and 126 cases(2.59‰)had abnormal chromosome number.There were 1567 chromosome polymorphism changes,with an incidence of 32.24‰.Conclusion:chromosome disease is the main reason for the birth population quality and fetal death,neonatal umbilical cord blood chromosome detection,and the current lack of prenatal diagnosis has the very good supplement,for chromosomal abnormalities in children with early discovery,early diagnosis,early treatment has important value,to family genetic counseling,give birth to the clinical guidance and has great significance to the secondary prevention of birth defects.

关 键 词：新生儿 脐带血 染色体 

分 类 号：R722.1[医药卫生—儿科]