Chen Chih-Ping, Wang Liang-Kai, Chern Schu-Rern, Wu Peih-Shan, Chen Yu-Ting, Kuo Yu-Ling, Chen Wen-Lin, Lee Meng-Shan, Wang Wayseen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2014 Mar;53(1):79-85. doi: 10.1016/j.tjog.2013.12.002.
This study was aimed at prenatal diagnosis of mosaic tetrasomy 9p and reviewing the literature.
A 37-year-old woman underwent amniocentesis at 20 weeks' gestation because of advanced maternal age and fetal ascites. Cytogenetic analysis of cultured amniocytes revealed 21.4% (6/28 colonies) mosaicism for a supernumerary i(9p). Repeat amniocentesis was performed at 23 weeks' gestation. Array comparative genomic hybridization, interphase fluorescence in situ hybridization, and quantitative fluorescent polymerase chain reaction were applied to uncultured amniocytes, and conventional cytogenetic analysis was applied to cultured amniocytes.
Array comparative genomic hybridization analysis of uncultured amniocytes detected a genomic gain at 9p24.3-9q21.11. Interphase fluorescence in situ hybridization analysis of uncultured amniocytes using a 9p24.3-specific probe RP11-31F19 (spectrum red) showed four red signals in 47.1% (49/104 cells) in uncultured amniocytes. Cytogenetic analysis of cultured amniocytes revealed a karyotype of 47,XX, +idic(9)(pter→q21.11::q21.11→pter)[4]/46,XX[20] and 16.7% (4/24 colonies) mosaicism for tetrasomy 9p. Quantitative fluorescent polymerase chain reaction confirmed a maternal origin of tetrasomy 9p. The pregnancy was terminated, and a malformed fetus was delivered with hydrops fetalis and facial dysmorphism. The fetal blood cells had 32.5% (13/40 cells) mosaicism for tetrasomy 9p.
Mosaic tetrasomy 9p at amniocentesis can be associated with fetal ascites and hydrops fetalis. The mosaic level of tetrasomy 9p may decrease after long-term tissue culture in amniocytes in case of mosaic tetrasomy 9p.
本研究旨在对9号染色体短臂三体性嵌合体进行产前诊断并复习相关文献。
一名37岁女性因母亲年龄偏大及胎儿腹水，于孕20周时接受羊膜腔穿刺术。对培养的羊水细胞进行细胞遗传学分析，结果显示额外的i(9p)存在21.4%（6/28个克隆）的嵌合现象。孕23周时再次进行羊膜腔穿刺术。对未培养的羊水细胞应用阵列比较基因组杂交、间期荧光原位杂交和定量荧光聚合酶链反应，对培养的羊水细胞进行常规细胞遗传学分析。
对未培养的羊水细胞进行阵列比较基因组杂交分析，检测到9p24.3 - 9q21.11区域存在基因组增益。使用9p24.3特异性探针RP11 - 31F19（光谱红）对未培养的羊水细胞进行间期荧光原位杂交分析，结果显示在未培养的羊水细胞中有47.1%（49/104个细胞）出现四个红色信号。对培养的羊水细胞进行细胞遗传学分析，结果显示核型为47,XX, +idic(9)(pter→q21.11::q21.11→pter)[4]/46,XX[20]，9号染色体短臂三体性存在16.7%（4/24个克隆）的嵌合现象。定量荧光聚合酶链反应证实9号染色体短臂三体性源自母体。终止妊娠后，娩出一个患有胎儿水肿和面部畸形的畸形胎儿。胎儿血细胞中9号染色体短臂三体性的嵌合率为32.5%（13/40个细胞）。
羊膜腔穿刺时发现的9号染色体短臂三体性嵌合体可能与胎儿腹水和胎儿水肿有关。对于9号染色体短臂三体性嵌合体，羊水细胞长期组织培养后9号染色体短臂三体性的嵌合水平可能会降低。
