产前诊断中羊水染色体嵌合体的回顾性分析  

To retrospective analysis the chromosome mosaicism of amniocyte in prenatal diagnosis

作　　者：禤洁甜[1] 伍启康[1] 

机构地区：[1]广东省佛山市第一人民医院检验科,广东佛山528000

出　　处：《中国产前诊断杂志（电子版）》2017年第4期21-23,共3页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的通过对产前诊断中胎儿羊水细胞染色体嵌合体的结果回顾性分析,为临床羊水细胞嵌合体病例的产前咨询和处理提供一个更好的临床指引。方法收集2006~2016年有产前诊断指征病例3422例,在本院产前诊断中心行羊水穿刺术,进行胎儿羊水细胞培养及染色体核型分析,核型分析结果为嵌合体的孕妇建议行胎儿脐带血穿刺验证,并对妊娠结局进行随访。结果嵌合体发生率为0.29%。性染色体异常的嵌合体8例(80.0%),数目异常的嵌合体2例(20.0%)。同意行胎儿脐带血或胎儿组织验证的有8例,验证结果为真性嵌合体5例,相符率为62.5%。结论产前诊断中胎儿羊水细胞染色体嵌合体的病例必须进行胎儿脐带血染色体分析验证,确保结果的准确性。Objective To retrospective analysis the incidence of amniocytemosaics in prenatal diagnosis,in order to give some better guidelines of prenatal consultation and management.Method From2006to2016with indications of prenatal diagnosis in3422cases in the prenatal diagnosis center in our hospital underwent amniocentesis,analysis of fetal amniotic fluid cell culture and chromosome analysis,mosaics patients suggested fetal cordpuncture test chromosome analysis,and follow up the pregnancy outcome of the all cases.Results The incidence rate of mosaics is0.29%.There are8cases of sex chromosome abnormality(80%),2cases of the numerical of abnormality(20%).There are8cases by the help of chromosomal analysis fetal blood or fetal tissue,to identified5cases of the true mosaics,the coincidence rate is62.5%.Conclusions Amniocytemosaics cases must for fetalblood chromosome analysis,in order to distinguishthe ture or pseudo mosaics.

关 键 词：羊水 脐血 假性嵌合体 真性嵌合体 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]