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Genetics of gestational trophoblastic disease

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Title: Genetics of gestational trophoblastic disease
Authors: Fisher RA
Item Type: Journal Article
Abstract: The abnormal pregnancies complete and partial hydatidiform mole are genetically unusual, being associated with two copies of the paternal genome. Typical complete hydatidiform moles (CHMs) are diploid and androgenetic, while partial hydatidiform moles (PHMs) are diandric triploids. While diagnosis can usually be made on the basis of morphology, ancillary techniques that exploit their unusual genetic origin can be used to facilitate diagnosis. Genotyping and p57 immunostaining are now routinely used in the differential diagnosis of complete and partial hydatidiform moles, for investigating unusual mosaic or chimeric products of conception with a molar component and identifying the rare diploid, biparental HMs associated with an inherited predisposition to molar pregnancies. Genotyping also plays an important role in the differential diagnosis of gestational and non-gestational trophoblastic tumours and identification of the causative pregnancy where tumours are gestational. Recent developments include the use of cell-free DNA for non-invasive diagnosis of these conditions.
Editors: Hancock, BW
Newlands, ES
Berkowitz, RS
Issue Date: Jul-2021
Date of Acceptance: 1-Feb-2021
URI: http://hdl.handle.net/10044/1/88948
DOI: 10.1016/j.bpobgyn.2021.01.004
ISSN: 1521-6934
Publisher: Elsevier
Start Page: 29
End Page: 41
Journal / Book Title: Best Practice and Research: Clinical Obstetrics and Gynaecology
Volume: 74
Copyright Statement: © 2021 Elsevier Ltd. All rights reserved. This manuscript is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Licence http://creativecommons.org/licenses/by-nc-nd/4.0/
Keywords: Science & Technology
Life Sciences & Biomedicine
Obstetrics & Gynecology
Complete hydatidiform mole
Partial hydatidiform mole
Familial recurrent hydatidiform moles
p57 immunostaining
Genotyping
Trophoblastic tumour
COMPLETE HYDATIDIFORM MOLE
COMPARATIVE GENOMIC HYBRIDIZATION
PLACENTAL-SITE
NLRP7 MUTATIONS
Y-CHROMOSOME
CASE SERIES
DIAGNOSIS
ORIGIN
MORPHOLOGY
P57(KIP2)
Complete hydatidiform mole
Familial recurrent hydatidiform moles
Genotyping
Partial hydatidiform mole
Trophoblastic tumour
p57 immunostaining
Cyclin-Dependent Kinase Inhibitor p57
Female
Genotype
Gestational Trophoblastic Disease
Humans
Hydatidiform Mole
Immunohistochemistry
Pregnancy
Uterine Neoplasms
Humans
Hydatidiform Mole
Uterine Neoplasms
Immunohistochemistry
Pregnancy
Genotype
Female
Cyclin-Dependent Kinase Inhibitor p57
Gestational Trophoblastic Disease
Obstetrics & Reproductive Medicine
1114 Paediatrics and Reproductive Medicine
Publication Status: Published
Online Publication Date: 2021-02-02
Appears in Collections:Department of Surgery and Cancer
Faculty of Medicine



This item is licensed under a Creative Commons License Creative Commons