Prenatal sonographic features can accurately determine parental origin in triploid pregnancies.
Malou A LugthartJudith HorenblasEmily C KleinrouwelerMelanie EngelsAlida C KnegtKarin HuijsdensElisabeth van LeeuwenEva PajkrtPublished in: Prenatal diagnosis (2020)
Asymmetrical growth restriction with severe HC/AC discrepancy is pathognomonic of maternal triploidy. Placental molar changes indicate a paternal triploidy. Moreover, triploidy can present with an abnormal first trimester combined test, with serum levels on the extreme end. When available results of maternal serum markers can support the diagnosis of parental origin of the triploidy, an accurate assessment of the parental origin based on prenatal sonographic features is possible, making DNA analysis redundant.