在羊水过多、腹部膨隆和 Beckwith-Wiedemann 综合征胎儿中检测 H19DMR 的高甲基化。

Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome.

机构信息

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 Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.

出版信息

Taiwan J Obstet Gynecol. 2021 Nov;60(6):1103-1106. doi: 10.1016/j.tjog.2021.09.025.

DOI:10.1016/j.tjog.2021.09.025

PMID:34794746

Abstract

OBJECTIVE

We present detection of hypermethylation at H19 differentially methylated region (DMR) at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome (BWS).

CASE REPORT

A 31-year-old, gravida 2, para 1, woman was referred for genetic counseling at 22 weeks of gestation because of fetal overgrowth with fetal biometry equivalent to 24 weeks of gestation and a distended abdomen with an abdominal circumference equivalent to 26 weeks of gestation. She did not undergo any assisted reproductive technology during this pregnancy. Amniocentesis was performed at 23 weeks of gestation. Conventional cytogenetic analysis revealed a karyotype of 46,XX. Array comparative genomic hybridization analysis on the DNA extracted from uncultured amniocytes revealed no genomic imbalance. Methylation analysis on the DNA extracted from amniocytes revealed hypermethylation at H19DMR [imprinting center 1 (IC1)] and normal methylation at KvDMR1 (IC2). The methylation test confirmed the diagnosis of BWS in the fetus. The parents decided to continue the pregnancy. At 36 weeks of gestation, a 4000-g female baby was delivered with macroglossia, ear tags and creases, and an enlarged liver, consistent with the phenotype of BWS.

CONCLUSION

Prenatal diagnosis of fetal overgrowth should include a differential diagnosis of BWS, and methylation analysis of H19DMR (IC1) and KvDMR1 (IC2) is useful under such a circumstance.

摘要

目的

我们在羊水穿刺中检测到过度生长、腹部膨隆和贝克威斯-威德曼综合征（BWS）胎儿的 H19 差异甲基化区域（DMR）的高甲基化。

病例报告

一名 31 岁、孕 2 产 1 的女性因胎儿过度生长而在妊娠 22 周接受遗传咨询，胎儿生物测量值相当于 24 周妊娠，腹部膨隆，腹围相当于 26 周妊娠。她在这次妊娠中没有接受任何辅助生殖技术。在妊娠 23 周时进行了羊膜穿刺术。常规细胞遗传学分析显示核型为 46,XX。从未培养的羊水细胞中提取的 DNA 进行的阵列比较基因组杂交分析显示没有基因组失衡。从羊水细胞中提取的 DNA 的甲基化分析显示 H19DMR（印迹中心 1 [IC1]）的高甲基化和 KvDMR1（IC2）的正常甲基化。甲基化测试证实了胎儿的 BWS 诊断。父母决定继续妊娠。在妊娠 36 周时，一名 4000 克的女婴出生，具有巨舌、耳标和折痕，以及增大的肝脏，与 BWS 的表型一致。