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

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...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Chih-Ping Chen, Schu-Rern Chern, Chien-Hsing Lin, Chin-Yuan Hsu, Hsiang-Yu Lin, Fang-Tzu Wu, Shin-Wen Chen, Wayseen Wang
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Beckwith-wiedemann syndrome H19DMR (IC1) hypermethylation Methylation test Overgrowth Prenatal diagnosis Gynecology and obstetrics RG1-991
Acceso en línea:	https://doaj.org/article/0918f61cc13b4604a9b64c1338470129
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:0918f61cc13b4604a9b64c1338470129
record_format	dspace
spelling	oai:doaj.org-article:0918f61cc13b4604a9b64c13384701292021-11-18T04:44:49ZDetection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome1028-455910.1016/j.tjog.2021.09.025https://doaj.org/article/0918f61cc13b4604a9b64c13384701292021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S1028455921002655https://doaj.org/toc/1028-4559Objective: 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.Chih-Ping ChenSchu-Rern ChernChien-Hsing LinChin-Yuan HsuHsiang-Yu LinFang-Tzu WuShin-Wen ChenWayseen WangElsevierarticleBeckwith-wiedemann syndromeH19DMR (IC1) hypermethylationMethylation testOvergrowthPrenatal diagnosisGynecology and obstetricsRG1-991ENTaiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 6, Pp 1103-1106 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Beckwith-wiedemann syndrome H19DMR (IC1) hypermethylation Methylation test Overgrowth Prenatal diagnosis Gynecology and obstetrics RG1-991
spellingShingle	Beckwith-wiedemann syndrome H19DMR (IC1) hypermethylation Methylation test Overgrowth Prenatal diagnosis Gynecology and obstetrics RG1-991 Chih-Ping Chen Schu-Rern Chern Chien-Hsing Lin Chin-Yuan Hsu Hsiang-Yu Lin Fang-Tzu Wu Shin-Wen Chen Wayseen Wang Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome
description	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.
format	article
author	Chih-Ping Chen Schu-Rern Chern Chien-Hsing Lin Chin-Yuan Hsu Hsiang-Yu Lin Fang-Tzu Wu Shin-Wen Chen Wayseen Wang
author_facet	Chih-Ping Chen Schu-Rern Chern Chien-Hsing Lin Chin-Yuan Hsu Hsiang-Yu Lin Fang-Tzu Wu Shin-Wen Chen Wayseen Wang
author_sort	Chih-Ping Chen
title	Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome
title_short	Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome
title_full	Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome
title_fullStr	Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome
title_full_unstemmed	Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome
title_sort	detection of hypermethylation at h19dmr at amniocentesis in a fetus with overgrowth, distended abdomen and beckwith-wiedemann syndrome
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/0918f61cc13b4604a9b64c1338470129
work_keys_str_mv	AT chihpingchen detectionofhypermethylationath19dmratamniocentesisinafetuswithovergrowthdistendedabdomenandbeckwithwiedemannsyndrome AT schurernchern detectionofhypermethylationath19dmratamniocentesisinafetuswithovergrowthdistendedabdomenandbeckwithwiedemannsyndrome AT chienhsinglin detectionofhypermethylationath19dmratamniocentesisinafetuswithovergrowthdistendedabdomenandbeckwithwiedemannsyndrome AT chinyuanhsu detectionofhypermethylationath19dmratamniocentesisinafetuswithovergrowthdistendedabdomenandbeckwithwiedemannsyndrome AT hsiangyulin detectionofhypermethylationath19dmratamniocentesisinafetuswithovergrowthdistendedabdomenandbeckwithwiedemannsyndrome AT fangtzuwu detectionofhypermethylationath19dmratamniocentesisinafetuswithovergrowthdistendedabdomenandbeckwithwiedemannsyndrome AT shinwenchen detectionofhypermethylationath19dmratamniocentesisinafetuswithovergrowthdistendedabdomenandbeckwithwiedemannsyndrome AT wayseenwang detectionofhypermethylationath19dmratamniocentesisinafetuswithovergrowthdistendedabdomenandbeckwithwiedemannsyndrome
_version_	1718425018422001664

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

Ejemplares similares