Chen Chih-Ping, Su Yi-Ning, Lin Ming-Huei, Wang Tao-Yeuan, Chern Schu-Rern, Kuo Yu-Ling, Chen Yu-Ting, 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, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2014 Mar;53(1):68-73. doi: 10.1016/j.tjog.2013.10.036.
This paper aims to present molecular cytogenetic and epigenetic evaluation of placental mesenchymal dysplasia (PMD).
A 33-year-old woman was referred to the hospital at 18 weeks of gestation because of a multicystic mass in the placenta. Ultrasound showed a normal amount of amniotic fluid and a normal singleton fetus. Amniocentesis revealed a karyotype of 46,XX. Array comparative genomic hybridization analysis of amniocytes revealed no genomic imbalance. Preterm labor and premature rupture of the membranes occurred, and a female fetus was delivered with no structural abnormality. The placenta was enlarged and filled with many grape-like vesicles. In the placental cystic mass, interphase fluorescence in situ hybridization revealed diploidy and array comparative genomic hybridization revealed no genomic imbalance. Quantitative fluorescent polymerase chain reaction (QF-PCR), methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), and methylation-specific PCR were performed in the placental cystic mass.
MS-MLPA analysis showed hypermethylation (methylation index = 0.8) at H19 differentially methylated region (DMR) [imprinting center 1 (IC1)] at 11p15.5 and hypomethylation (methylation index = 0.2) at KvDMR1(IC2) at 11p15.5. Methylation-specific PCR assay identified hypomethylation of PEG1/MEST at 7q32, and hypermethylation at H19DMR and hypomethylation at KvDMR1 at 11p15.5. QF-PCR analysis identified androgenetic/biparental mosaicism in the placenta. The placental cystic mass was consistent with the diagnosis of PMD.
MS-MLPA and methylation-specific PCR are useful methods for rapid detection of epigenetic alternations in PMD, and QF-PCR is useful in the diagnosis of androgenetic/biparental mosaicism.
本文旨在介绍胎盘间质性发育异常（PMD）的分子细胞遗传学和表观遗传学评估。
一名33岁女性在妊娠18周时因胎盘出现多囊性肿块被转诊至医院。超声检查显示羊水正常，单胎胎儿正常。羊水穿刺显示核型为46,XX。羊水细胞的阵列比较基因组杂交分析未发现基因组失衡。发生了早产和胎膜早破，分娩出一名无结构异常的女胎。胎盘增大，充满许多葡萄样小泡。在胎盘囊性肿块中，间期荧光原位杂交显示二倍体，阵列比较基因组杂交未发现基因组失衡。对胎盘囊性肿块进行了定量荧光聚合酶链反应（QF-PCR）、甲基化特异性多重连接依赖探针扩增（MS-MLPA）和甲基化特异性PCR。
MS-MLPA分析显示，11p15.5处H19差异甲基化区域（DMR）[印记中心1（IC1）]存在高甲基化（甲基化指数=0.8），11p15.5处KvDMR1（IC2）存在低甲基化（甲基化指数=0.2）。甲基化特异性PCR检测发现7q32处PEG1/MEST低甲基化，11p15.5处H19DMR高甲基化和KvDMR1低甲基化。QF-PCR分析确定胎盘中存在孤雄/双亲嵌合体。胎盘囊性肿块符合PMD的诊断。
MS-MLPA和甲基化特异性PCR是快速检测PMD表观遗传改变的有用方法，QF-PCR有助于诊断孤雄/双亲嵌合体。
