Recurrent fetal triploidy: is there a genetic cause?

Abstract

Triploidy is currently understood as a sporadic genetic disorder, with no recognisable risk of recurrence nor identifiable risk factors. In cases of triploidy, chances of thriving through the second trimester of fetal development are very slim, with most of these pregnancies ending as early miscarriage. We report a case of repeated triploid pregnancies in the same woman, from different fathers, achieving the second trimester of pregnancy; elective termination was decided in both cases, after an amniocentesis revealing a triploid karyotype. Both triploid pregnancies are described and compared; prenatal laboratorial markers, sonographic features, clinical course and pathological findings are analysed and matched with fetal autopsy and placental pathological study. Reported findings strongly point to recurrent triploidy of maternal origin, and so the possibility of a genetic predisposition should be considered. Investigation is required to assess the presence of an underlying genetic mechanism in this setting, thus enabling a better genetic/obstetric counselling.