Cited by 11Gestational Trophoblastic Disease StudiesPrenatal Screening and DiagnosticsGenetic Syndromes and Imprinting

“While there is p57, there is hope.” The past and the present of diagnosis in first trimester abortions: Diagnostic dilemmas and algorithmic approaches. A review

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Giacometti, Cinzia, Bellan, Elena, Ambrosi, Alessandro, Dei Tos, Angelo Paolo, Cassaro, Mauro, Ludwig, Kathrin·2021·Placenta

Abstract

Distinction of hydatidiform moles (HM) from non-molar (NM) specimens and subclassification of HM as complete hydatidiform mole (CHM) versus partial hydatidiform mole (PHM) are important for clinical practice and investigational studies. The issue of diagnostic reproducibility is still unsolved, the lack of diagnostic accuracy based on morphology is substantial with an important interobserver variability, even between experienced gynecologic pathologists. Many ancillary techniques have been investigated in the last years to refine HM diagnosis. p57 (a paternally imprinted, maternally expressed gene) immunohistochemistry, based on the unique genetics of CHM (purely androgenetic), PHM (diandric triploid), and NM specimens (biparental, with allelic balance) can identify CHMs, which lack p57 expression because of a lack of maternal DNA. However, although its role in HM diagnosis is pivotal, it does not allow the distinction of PHM from NM specimens, both of which express p57 due to the presence of maternal DNA. Molecular genotyping, which compares villous and decidual DNA patterns to determine the parental source and ratios of polymorphic alleles, distinguishes purely androgenetic CHM from diandric triploid PHM, and both of these from NM specimens. Beyond the claim of establishing a "diagnostic truth", exceptions and peculiar genetic scenarios in the origin of rare CHM and PHM should be kept in mind when approaching any ancillary technique. An algorithmic approach, even in settings with limited resources, can help the pathologists in the diagnostic dilemma of diagnosis of first trimester abortions.

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Crossref · 10.1016/j.placenta.2021.02.010

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Authors
Giacometti, C., Bellan, E., Ambrosi, A., Dei Tos, A. P., Cassaro, M., & Ludwig, K.
Affiliations
  • University of Padua (IT)
  • Vita-Salute San Raffaele University (IT)
  • Azienda Ospedale - Università Padova (IT)
Corresponding author
Ludwig, Kathrin
Venue
Placenta
Publisher
Elsevier BV
Published
2021-12
Volume
116
Pages
31-37
ISSN
0143-4004 (ISSN-L)
OpenAlex
W3130021469
Cited by
11
References
43
Citations by year
2026: 1 · 2025: 3 · 2024: 1 · 2023: 3 · 2022: 2 · 2021: 1
FWCI
0.31
Type
journal article
Language
en
Open access
Locations
  • Placenta (publishedVersion)
  • PubMed (publishedVersion)
  • Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion, cc-by-nc-nd)
  • Padua Research Archive (University of Padova) (submittedVersion)
Topics
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Gestational Trophoblastic Disease Studies
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
Keywords
hydatidiform mole, complete hydatidiform mole, partial hydatidiform mole, first-trimester abortion, molecular genotyping, diagnostic algorithm, interobserver variability, gestational trophoblastic disease
MeSH terms
Diagnosis, Differential, Female, Genotype, Humans, Hydatidiform Mole, Pregnancy, Pregnancy Trimester, First, Uterine Neoplasms, Cyclin-Dependent Kinase Inhibitor p57

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