Clinical utility of selective molecular genotyping for diagnosis of partial hydatidiform mole; a retrospective study from a regional trophoblastic disease unit

Abstract

Molecular genotyping allows definitive diagnosis of PHM for cases in which specialist histopathology review remains equivocal. While this approach provides definite diagnosis it is considerably more expensive than a pragmatic management approach of human chorionic gonadotrophin surveillance in all such cases.

Clinical Presentation of Complete Hydatidiform Mole and Partial Hydatidiform Mole at a Regional Trophoblastic Disease Center in the United States

“…For this reason, it is recommended to carry out histopathologic examination of all material from abortions or, if it is not available, to obtain a negative measurement of hCG after gestational losses. 27 Both CM and PM are being diagnosed earlier in gestation. Although the risk of GTN is substantially lower after PM, patients with both CM and PM require hCG follow-up to ensure prompt detection and treatment of GTN.…”

A Reappraisal of the Incidence of Placental Hydatidiform Mole Using Selective Molecular Genotyping

“…Rather than to adopt MG into routine practice, it has been suggested that it is more practical and less expensive to follow women with findings ''suspicious for HM'' with beta human chorionic gonadotropin assessments. 37 This management approach, however, commits women to unnecessary monitoring and postponement of reproductive activity. Our alternative approach consisting of selective use of IHC and MG increases the specificity of a diagnosis of HM and identifies women with nonmolar abortus who can avoid any further investigation and follow-up.…”

Hydatidiform Moles: Ancillary Techniques to Refine Diagnosis

“…Some nonmolar specimens are digynic triploid conceptions (2 maternal and 1 paternal chromosome complements). In most cases, digynic triploid conceptions do not exhibit molar features, 26,28 but on occasion they can have some focal dysmorphic features suggesting a PHM, 29 and rare examples occurring in patients with familial recurrent hydatidiform mole associated with mutations in NLRP7 (NALP7) or KHDC3L (C6orf221) can have the morphology and immunophenotype (p57 À ) of a CHM. 30 Nonmolar specimens with cytogenetic abnormalities, such as trisomy, can have dysmorphic villi suggesting or simulating PHMs.…”