Recurrent GTD and GTD coexisting with normal twin pregnancy.
Familial
Hydatidiform mole
Mosaic
Recurrence
Twin pregnancy
Journal
Best practice & research. Clinical obstetrics & gynaecology
ISSN: 1532-1932
Titre abrégé: Best Pract Res Clin Obstet Gynaecol
Pays: Netherlands
ID NLM: 101121582
Informations de publication
Date de publication:
Jul 2021
Jul 2021
Historique:
received:
13
10
2020
revised:
04
11
2020
accepted:
01
12
2020
pubmed:
17
1
2021
medline:
21
7
2021
entrez:
16
1
2021
Statut:
ppublish
Résumé
Hydatidiform mole (HM) affects around 1/1000 pregnancies, and in such cases the recurrence risk is around 1%, being greater for those with complete HM (CHM). Whilst most cases appear sporadic with unknown mechanisms, there is a distinct subgroup of patients who suffer recurrent pregnancy loss, including multiple recurrent CHM (familial recurrent biparental HM syndrome). The majority of these cases are related to maternal genetic mutations in genes related to the control of imprinting, specifically NALP7 and KHDC3L. Oocyte donation is an effective treatment allowing these patients to have successful pregnancies. Approximately 1 in 50,000 pregnancies are complicated by twin pregnancy comprising normal foetus and HM, the majority of reported cases being CHM. Such pregnancies are at significantly increased risk of complications, including pregnancy loss, early-onset preeclampsia and severe preterm delivery, but when managed conservatively the delivery of a liveborn healthy infant occurs in around one-third of cases. Regardless of management, the risk of persistent GTD in such cases appears similar to that following singleton CHM. Rarely, other conditions mimic prenatal ultrasound appearances of twin pregnancy with HM, CHM mosaicism and placental mesenchymal dysplasia, both of which have distinctive histological and genetic features.
Identifiants
pubmed: 33451920
pii: S1521-6934(20)30177-2
doi: 10.1016/j.bpobgyn.2020.12.002
pii:
doi:
Substances chimiques
KHDC3L protein, human
0
Proteins
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
122-130Informations de copyright
Copyright © 2020. Published by Elsevier Ltd.
Déclaration de conflit d'intérêts
Declaration of competing interest The author has no conflicts of interest.