Recurrent GTD and GTD coexisting with normal twin pregnancy

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. @2020 Published by Elsevier Ltd.

Automated summary

Hydatidiform mole affects 1/1000 pregnancies with a 1% recurrence risk, higher for complete HM cases. Some patients with recurrent CHM may have familial recurrent biparental HM syndrome due to maternal genetic mutations. Oocyte donation is an effective treatment in these cases.