Article Text
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.
- pregnancy
- genetic screening / counselling
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Footnotes
Contributors AFO was co-responsible for the concept of the work, and responsible for the design of the work; the acquisition, analysis and interpretation of data; and drafting the article. MMT was co-responsible for the concept of the work; and responsible for critical revision of the article for important intellectual content; and approving the version to be published. RN was responsible for image acquisition and interpretation of the first triploid fetus data, critical revision of the article for important intellectual content; and approving the version to be published. MF was responsible for the critical revision of the article for important intellectual content; and approving the version to be published.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.