孕妇外周血胎儿游离DNA产前检测发现胎儿48,XXYY综合征一例  

A case of 48,XXYY syndrome detected by non-invasive prenatal testing

作　　者：甄建新[1,2] 谢淑萍 梁卉[1,2] 蓝慧娟 杨珍珍[3] 熊礼宽 ZHEN Jianxin;XIE Shuping;LIANG Hui;LAN Huijuan;YANG Zhenzhen;XIONG Likuan(Shenzhen Baoan Women’s and Children’s Hospital,Shenzhen,Guangdong 518100,China;Shenzhen Key Laboratory of Birth Defects,Shenzhen,Guangdong 518100,China;Guilin Medical University,Guilin,Guangxi 541000,China)

机构地区：[1]广东省深圳市宝安区妇幼保健院中心实验室,广东深圳518100 [2]深圳市出生缺陷研究重点实验室,广东深圳518100 [3]广西壮族自治区桂林医学院生物技术学院,广西桂林541000

出　　处：《中国优生与遗传杂志》2021年第6期815-817,共3页Chinese Journal of Birth Health & Heredity

基　　金：深圳市宝安区科技计划项目(2019JD354);深圳市科技创新委员会项目(JCYJ20160429172728335)。

摘　　要：目的报告一例由孕妇外周血胎儿游离DNA产前检测发现的48,XXYY综合征。方法对胎儿游离DNA产前检测结果提示胎儿性染色体异常的孕妇进行羊水染色体核型分析和羊水微阵列染色体比较基因组杂交技术检测,同时对孕妇及其丈夫取外周血进行染色体核型分析,以确认胎儿性染色体异常的来源情况。结果孕妇染色体核型为46,XX,1qh+;丈夫染色体核型为46,XY;胎儿染色体核型为48,XXYY。结论无创产前基因检测技术可通过孕妇外周血中胎儿游离DNA提示胎儿性染色体异常,结合羊膜腔穿刺行羊水染色体核型分析及微阵列染色体比较基因组杂交技术检测完成产前诊断,该模式有利于罕见型胎儿染色体异常的发现与诊断,可及时开展相应的遗传咨询。Objective To report a case of 48,XXYY syndrome detected by non-invasive prenatal testing(NIPT).Methods Fetal sex chromosomal abnormality was detected by NIPT and confirmed with chromosome karyotype analysis and Array CGH of amniotic fluid sample from the pregnant woman.We also performed chromosome karyotype analysis of the pregnant woman and her husband with their peripheral blood.Results The chromosome karyotypes of the pregnant woman and her husband were 46,XX,1qh+and 46,XY,respectively.The fetal chromosome karyotype was 48,XXYY.Conclusion NIPT is able to detect fetal sex chromosome abnormality during prenatal screening period.Combined with subsequent prenatal diagnosis,it enables the early detection and timely genetic counseling of the rare fetal chromosomal aneuploidy abnormality.

关 键 词：胎儿游离DNA产前检测 48 XXYY综合征 染色体核型分析 微阵列染色体比较基因组杂交技术 

分 类 号：R714.5[医药卫生—妇产科学]