产前诊断9号染色体三体嵌合体病例的遗传学分析  

Genetic analysis of trisomy 9 mosaicism in prenatal diagnosis

作　　者：董文婿 吴勤娟 黄晓民 曾笑梅 杨菁 富显果 陆娇娇 郑娴 曹罗元 DONG Wenxu;WU Qinjuan;HUANG Xiaomin;ZENG Xiaomei;YANG Jing;FU Xianguo;LUJiaojiao;ZHENG Xian;CAO Luoyuan(Department of Central Laboratory,Ningde Municipal Hospital of Ningde Normal University,Ningde,Fujian 352100,China;Department of Obstetrics,Ningde Municipal Hospital of Ningde Normal University,Ningde,Fujian 352100,China;Ultrasound Medicine,Ningde Municipal Hospital of Ningde Normal University,Ningde,Fujian 352100,China)

机构地区：[1]宁德师范学院附属宁德市医院中心实验室,福建宁德352100 [2]宁德师范学院附属宁德市医院产科,福建宁德352100 [3]宁德师范学院附属宁德市医院超声医学科,福建宁德352100

出　　处：《中国优生与遗传杂志》2023年第9期1853-1857,共5页Chinese Journal of Birth Health & Heredity

基　　金：宁德师范学院出生缺陷和遗传病的实验诊断技术创新团队(2021T10)。

摘　　要：目的探讨胎儿9号染色体三体嵌合体病例的遗传学诊断方法。方法通过羊水细胞SNP-array、CNV-seq技术、羊水细胞间期FISH对9号染色体三体嵌合比例及遗传病因检测。结果羊水细胞核型分析为:47,X?,+9[64]/46,X?[36],SNP-array分析显示胎儿约40%细胞为9号染色体三体,同时显示胎儿的9号染色体为来自父母一方的单亲二体性(UPD)。羊水细胞间期FISH显示9号染色体三体嵌合比例为36%,胎儿皮肤组织嵌合比例为30%,胎盘组织嵌合比例为85%,超声显示(21 W 3 d):胎儿侧脑室双侧宽度为0.89 cm。结论胎盘组织发生了更为广泛的变异,9号染色体三体嵌合可能与侧脑室增宽相关。通过未经培养的羊水细胞行SNP-array或CNV-seq进行产前诊断,可避免细胞优势生长所造成的误差,为遗传咨询提供可靠的依据。Objective To investigate the genetic diagnosis of fetal with trisomy 9 mosaicism.Methods SNP-array,CNV-seq and interphase fluorescence in situ hybridization(FISH)were used to detect the mosaicism and genetic etiology of trisomy 9 in amniotic fluid cells.Results Karyotype analysis of amniotic fluid cells was 47,X?,+9[64]/46,X?[36].SNP-array analysis showed that about 40%of the cells in the fetus were trisomy 9,chromosome 9 of the fetus with uniparental disomy(UPD).The mosaicism rate of trisomy 9 was 36%in amniotic fluid,30%in skin tissue and 85%in placenta tissue.Ultrasound(21 W 3 d)showed that the width of the bilateral lateral ventricle was 0.89 cm.Conclusion Our findings reveal extensive mutagenesis in placental tissues and trisomy 9 mosaicism may be associated with ventriculomegaly.Prenatal diagnosis by SNP-array or CNV-seq in uncultured amniotic fluid cells,which will avoid errors caused by cell dominant growth and provide reliable basis for genetic counseling.

关 键 词：9号染色体三体 细胞遗传学 嵌合体 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]