Hydatidiform mole identification using non-invasive single-cell sequencing of fetal circulating extravillous trophoblasts isolated from maternal blood

Partial hydatidiform mole (PHM) is typically triploid and derived from dispermic fertilization of the oocyte (P1P2M(P, paternal; M, maternal)). The majority of women with a molar pregnancy miscarry spontaneously during thefirst trimester. Accurate diagnosis is important due tothe associated risks of pre-eclampsia and gestational trophoblastic disease (GTD). However, a low rate of diagnosis persists as only 40% of cases are identified sonographically prior to uterine evacuation, and due to lack of histological confirmation. Additional accurate detection methods would overcome these limitations in current clinical practice.