两次妊娠胎儿颈项透明层增厚伴孕妇多囊肾家系的产前遗传学诊断  

Prenatal genetic diagnosis of increased fetal nuchal translucency in two pregnancies of a woman from polycystic kidney disease pedigree

作　　者：龙喜贵[1] 田矛[1] 李颖[1] 张秀群 伍欣[1] 覃婷[1] Long Xigui;Tian Mao;Li Ying;Zhang Xiuqun;Wu Xin;Qin Ting(Medical Genetics and Prenatal Diagnosis Center,the People's Hospital of Guangxi Zhuang Autonomous Region,Nanning 530021,China)

机构地区：[1]广西壮族自治区人民医院医学遗传与产前诊断中心,南宁530021

出　　处：《中华围产医学杂志》2023年第10期858-861,共4页Chinese Journal of Perinatal Medicine

基　　金：广西科技基地与人才专项(桂科AD20238042);广西壮族自治区卫生健康委员会计划课题(Z20190791);广西壮族自治区人民医院青年基金(QN2018-10)。

摘　　要：本文报道了1例多囊肾孕妇2次妊娠胎儿均颈项透明层(nuchal translucency,NT)增厚。第一次妊娠胎儿孕12周+5 NT值5.1 mm,孕32周早产后新生儿因呼吸功能不全及重度窒息夭折。此次妊娠胎儿孕12周NT值5.7 mm,经全外显子组测序及Sanger测序验证,证实已夭折患儿及胎儿NEB基因均存在母源性c.42554256del及父源性c.18366+2T>C复合杂合变异,均为致病变异,诊断胎儿为先天性多发性关节挛缩症6型(arthrogryposis multiplex congenita 6,AMC6),经遗传咨询,孕妇选择终止妊娠。全外显子组测序联合多重连接探针扩增技术诊断孕妇为PKD1基因25~43号外显子大片段缺失导致的多囊肾1型患者。This paper reported a woman with polycystic kidney disease who had increased fetal nuchal translucency(NT)in her two sequential pregnancies.The fetal NT thickness in the first pregnancy was 5.1 mm at 12+5 weeks of gestation,and the infant was born prematurely at 32 gestational weeks.However,the baby girl died due to respiratory insufficiency and severe asphyxia.The NT thickness in the present pregnancy was 5.7 mm at 12 weeks of gestation.Whole-exome sequencing(WES)and Sanger sequencing confirmed that the dead infant and the current fetus carried compound heterozygous variants of maternal c.4255_4256del and paternal c.18366+2T>C in NEB gene,both were pathogenic variants.The current fetus was diagnosed with arthrogryposis multiplex congenita 6(AMC6).After genetic counseling,the pregnant woman chose to terminate the pregnancy.The pregnant woman was diagnosed as having polycystic kidney disease type 1 caused by large deletions in exons 25-43 of PKD1 gene by WES combined with multiplex ligation-dependent probe amplification technology.

关 键 词：多囊肾疾病 系谱 颈部透明层检查 关节挛缩 肌蛋白质类 全外显子组测序 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]