产前超声疑似胎儿运动不能畸形序列征引产后确诊1例  

Akinesia deformation sequence in a fetus suspected by prenatal ultrasound and confirmed after mid-term termination

作　　者：罗歆瑶 辜秋阳[1] 刘新秀[1] 李建华[2] 黄丽燕 黄小花[1] 吴圣楠 杨静萍 谭美华 Luo Xinyao;Gu Qiuyang;Liu Xinxiu;Li Jianhua;Huang Liyan;Huang Xiaohua;Wu Shengnan;Yang Jingping;Tan Meihua(Department of Ultrasonography,the First Affiliated Hospital of Fujian Medical University,Fuzhou 350005,China;Department of Gynecology and Obstetrics,the First Affiliated Hospital of Fujian Medical University,Fuzhou 350005,China;BGI Genomics Co.,Ltd,Shenzhen 518083,China)

机构地区：[1]福建医科大学附属第一医院超声影像科,福州350005 [2]福建医科大学附属第一医院妇产科,福州350005 [3]深圳华大基因股份有限公司,深圳518083

出　　处：《中华围产医学杂志》2022年第3期218-221,共4页Chinese Journal of Perinatal Medicine

摘　　要：本文报道了1例由产前超声检查怀疑、引产后全外显子组测序-Sanger测序诊断的胎儿运动不能畸形序列征。该孕妇孕21周+4产前超声检查提示胎儿四肢姿势固定、胸廓狭小、胃泡明显缩小、颈后皱褶厚度增厚等多发异常。遗传咨询后, 夫妇决定终止妊娠, 引产胎儿外观与产前超声检查结果相符。取引产胎儿组织行全外显子组测序及Sanger测序验证, 证实胎儿存在RAPSN基因复合杂合变异:c.149;53delinsAGATGGGCCGCTACAAGGAGATGG(p.V50Efs*114)和c.227T>C(p.L76P), 分别遗传自父亲和母亲, 确诊为运动不能畸形序列征。We report a case of fetal akinesia deformation sequence(FADS),which was prenatally suspected on ultrasound and confirmed by whole exome sequencing and Sanger sequencing after mid-term termination.Prenatal ultrasonography revealed multiple abnormalities in a fetus at 21+4 weeks of gestation,consisting of fixed posture of limbs,narrow thorax,markedly shrunken gastric vacuole,and thickened nuchal fold.After genetic counseling,the pregnancy was terminated,and the appearance of the fetus was consistent with the ultrasound findings.Whole exome sequencing and Sanger sequencing of the fetal tissue verified a compound heterozygous variation of the RAPSN gene--c.149_153delins AGATGGGCCGCTACAAGGAGATGG(p.V50Efs*114)and c.227T>C(p.L76P),which were inherited from the father and mother,respectively,ultimately confirming the diagnosis of FADS.

关 键 词：关节挛缩 超声检查 产前 全外显子组测序 高通量核苷酸序列分析 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.53[医药卫生—诊断学]