Genetics of gestational trophoblastic disease

Best Pract Res Clin Obstet Gynaecol. 2021 Jul:74:29-41. doi: 10.1016/j.bpobgyn.2021.01.004. Epub 2021 Feb 2.


The abnormal pregnancies complete and partial hydatidiform mole are genetically unusual, being associated with two copies of the paternal genome. Typical complete hydatidiform moles (CHMs) are diploid and androgenetic, while partial hydatidiform moles (PHMs) are diandric triploids. While diagnosis can usually be made on the basis of morphology, ancillary techniques that exploit their unusual genetic origin can be used to facilitate diagnosis. Genotyping and p57 immunostaining are now routinely used in the differential diagnosis of complete and partial hydatidiform moles, for investigating unusual mosaic or chimeric products of conception with a molar component and identifying the rare diploid, biparental HMs associated with an inherited predisposition to molar pregnancies. Genotyping also plays an important role in the differential diagnosis of gestational and non-gestational trophoblastic tumours and identification of the causative pregnancy where tumours are gestational. Recent developments include the use of cell-free DNA for non-invasive diagnosis of these conditions.

Keywords: Complete hydatidiform mole; Familial recurrent hydatidiform moles; Genotyping; Partial hydatidiform mole; Trophoblastic tumour; p57 immunostaining.

Publication types

  • Review

MeSH terms

  • Cyclin-Dependent Kinase Inhibitor p57 / genetics
  • Female
  • Genotype
  • Gestational Trophoblastic Disease* / diagnosis
  • Gestational Trophoblastic Disease* / genetics
  • Humans
  • Hydatidiform Mole* / diagnosis
  • Hydatidiform Mole* / genetics
  • Immunohistochemistry
  • Pregnancy
  • Uterine Neoplasms* / genetics


  • Cyclin-Dependent Kinase Inhibitor p57