Chen Chih-Ping, Chern Schu-Rern, Chen Yen-Ni, Wu Peih-Shan, Yang Chien-Wen, Chen Li-Feng, 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 Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2015 Aug;54(4):426-31. doi: 10.1016/j.tjog.2015.06.002.
To present prenatal diagnosis of mosaic trisomy 15 at amniocentesis.
A 37-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Cytogenetic analysis of cultured amniocytes revealed a karyotype of 47,XY,+15[2]/46,XY[17]. She was referred for repeated amniocentesis at 19 weeks of gestation. Array comparative genomic hybridization (aCGH), interphase fluorescence in situ hybridization (FISH) and quantitative fluorescent polymerase chain reaction assays on uncultured amniocytes, conventional cytogenetic analysis and aCGH on cultured amniocytes, and FISH on uncultured urinary cells after birth were applied. Cordocentesis revealed a karyotype of 46,XY.
At repeated amniocentesis, cultured amniocytes revealed a karyotypes of 46,XY [22 colonies], FISH on uncultured amniocytes revealed 21.2% (22/104 cells) mosaicism for trisomy 15, aCGH on uncultured amniocytes revealed a genomic gain (log2 ratio = 0.3) in chromosome 15, quantitative fluorescent polymerase chain reaction on uncultured amniocytes excluded uniparental disomy 15 (UPD 15), and aCGH on culture amniocytes revealed no genomic imbalance in chromosome 15. A healthy 3700 g male baby was delivered at 38 weeks of gestation with no phenotypic abnormalities at age 6 months. FISH on uncultured urinary cells at birth and at age 6 months revealed mosaic trisomy 15 levels of 20% (13/65 cells) and 12.2% (6/49 cells), respectively.
Prenatal diagnosis of mosaic trisomy 15 at amniocentesis should alert doctors about the occurrence of UPD 15 and a clinically significant phenotype. The present case provides evidence for cytogenetic discrepancy between uncultured and cultured amniocytes in mosaic trisomy 15 at amniocentesis. It is possible that the abnormal cell lines of amniocytes with trisomy 15 disappear after long-term cell culture.
介绍羊膜腔穿刺术中15号染色体三体嵌合体的产前诊断。
一名37岁女性因孕母年龄偏大，于妊娠17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，结果显示核型为47,XY,+15[2]/46,XY[17]。她在妊娠19周时被转诊进行重复羊膜腔穿刺术。应用了对未培养羊水细胞的阵列比较基因组杂交（aCGH）、间期荧光原位杂交（FISH）和定量荧光聚合酶链反应检测、对培养羊水细胞的传统细胞遗传学分析和aCGH，以及出生后对未培养尿细胞的FISH。脐血穿刺结果显示核型为46,XY。
在重复羊膜腔穿刺术中，培养的羊水细胞显示核型为46,XY [22个克隆]，对未培养羊水细胞进行FISH检测显示15号染色体三体嵌合体比例为21.2%（22/104个细胞），对未培养羊水细胞进行aCGH检测显示15号染色体存在基因组增益（log2比值 = 0.3），对未培养羊水细胞进行定量荧光聚合酶链反应排除了单亲二体15（UPD 15），对培养羊水细胞进行aCGH检测显示15号染色体无基因组失衡。一名健康的3700克男婴于妊娠38周出生，6个月时无表型异常。出生时及6个月时对未培养尿细胞进行FISH检测显示，15号染色体三体嵌合体水平分别为20%（13/65个细胞）和12.2%（6/49个细胞）。
羊膜腔穿刺术中15号染色体三体嵌合体的产前诊断应提醒医生注意UPD 15的发生及具有临床意义的表型。本病例为羊膜腔穿刺术中15号染色体三体嵌合体未培养羊水细胞与培养羊水细胞之间的细胞遗传学差异提供了证据。15号染色体三体的羊水细胞异常细胞系在长期细胞培养后有可能消失。
