产前诊断胎儿颈项透明层增厚伴新发t(11;12)(q14;q24)一例被引量：1

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摘要孕妇28岁,身体健康,有头孢类药物过敏史。G2P1,现有一子,表型正常。自述本次妊娠孕早期孕酮低保胎治疗。孕早期超声检查发现胎儿颈项透明层(nuchal translucency,NT)5.6 mm(正常参考值1.57 mm)。未行血清学唐氏筛查,未见感染或贫血等导致不良妊娠结局的风险。孕17+周胎儿超声检查结果提示:宫内妊娠,单活胎,BPD:3.6 cm,HC:13.8 cm,AC:11.5 cm,FL:2.3 cm,HL:2.3 cm;颅骨环完整,脑中线居中,两侧丘脑可见,小脑可见;脊柱、四肢可见;双肺可见,腹壁完整,胃、双肾、膀胱可见,单脐动脉;胎盘附着于子宫前壁,0级,厚1.8 cm;羊水最大液深3.4 cm。

作者陈爽李琳琳李德军王轩刘睿智张红国

机构地区吉林大学第一医院生殖中心·产前诊断中心

出处《中华医学遗传学杂志》 CAS CSCD 2020年第12期1415-1416,共2页 Chinese Journal of Medical Genetics

基金吉林省发改委产业创新项目 (2017C025)。

关键词头孢类药物宫内妊娠子宫前壁唐氏筛查不良妊娠结局保胎治疗脑中线单脐动脉

分类号 R714.5 [医药卫生—妇产科学]

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参考文献2

1王挺,郭莉,陈汉彪,胡晶晶.早期产前筛查中胎儿颈项透明层厚度与绒毛染色体异常的相关性研究[J].中华医学遗传学杂志,2016,33(2):264-265. 被引量：30
2赵欣荣,王彦林,范阳阳,杲丽.胎儿颈项透明层增厚的临床咨询及预后分析[J].上海交通大学学报（医学版）,2018,38(5):529-532. 被引量：13

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