Diagnosis Of Partial Hydatidiform Mole Research Articles

Single-nucleotide polymorphism array and fluorescence in situ hybridization analysis to decode the cytogenetic profile of atypical partial hydatidiform moles diagnosed by short tandem repeat polymorphism analysis.

Accurate diagnosis of partial hydatidiform moles (PHMs) is crucial for improving outcomes of gestational trophoblastic neoplasia. The use of short tandem repeat (STR) polymorphism analysis to distinguish between PHM and hydropic abortuses is instrumental; however, its diagnostic power has not been comprehensively assessed. Herein, we evaluated the diagnostic efficacy of STR in differentiating between PHM and hydropic abortus, thus providing an opportunity for early measurement of human chorionic gonadotropin for PHMs. We reviewed charts of STR polymorphism analysis performed on fresh villous specimens and patient blood samples using a commercial kit for 16 loci. The genetic classification of 79 PHMs was confirmed. STR was reliable in differentiating PHMs when at least 15 loci were available. Typically, PHMs are characterized by their triploidy, including two paternal and one maternal haploid contribution. In our sample, seven PHMs lacked the three-allelic loci, requiring fluorescence in situ hybridization (FISH) analysis to investigate imbalanced biparental conceptus and single-nucleotide polymorphism array analysis to reveal cytogenetic details. Of these PHMs, two, three, and one were identified as androgenetic/biparental mosaics (diploids), monospermic diandric monogynic triploids, and a typical dispermic diandric monogynic triploid, respectively. The remaining case was monospermic origin, but its ploidy details could not be available. Therefore, STR differentiated PHM from a biparental diploid abortus in most cases. However, PHM diagnosis may be compromised when STR is used as the sole method for cases displaying distinct cytogenetic patterns lacking the three-allelic loci, including androgenetic/biparental mosaicism. Therefore, FISH should be considered to confirm the diagnosis.

Unveiling hemorrhagic shock from partial hydatidiform mole: A case study at Beja maternity ward

Introduction: Partial hydatidiform mole (PHM) is one of the gestational trophoblastic diseases characterized by cystic transformation of chorionic villi, retaining recognizable placental morphology, and an amniotic cavity with a fetus. Its incidence is approximately 3 per 1000 pregnancies. Symptomatology is marked by the occurrence of metrorrhagia following amenorrhea, most commonly in the first trimester and rarely in the second trimester. Case Report: We present a case of threatened premature delivery complicated by hemorrhagic shock, revealing a partial hydatidiform mole at 23 weeks of gestation. The diagnosis of PHM in the context of such clinical presentation underscores the importance of recognizing this rare entity early in pregnancy to facilitate appropriate management and optimize maternal and fetal outcomes. Conclusion: The provided text has already been divided into the Introduction, Case Report, and Conclusion sections as outlined above.

Early First-trimester Diagnosis of Partial Hydatidiform Mole with Coexistent Live Fetus in Twin Pregnancy

Early First-trimester Diagnosis of Partial Hydatidiform Mole with Coexistent Live Fetus in Twin Pregnancy

DNA analysis of partial hydatidiform mole revealing triandric monogynic tetraploidy.

The authors present a case of a partial hydatidiform mole where DNA analysis (STR - short tandem repeat genotyping) showed a triandric monogynic tetraploid genome composition with a XXXY gonosomal complement. This genetic finding clinicopathologically correlates with a partial hydatidiform mole, although it is rare in comparison with the typical, diandric monogynic triploid partial moles. The genetic analysis definitively confirmed the suspected diagnosis of a partial mole. To exclude the possibility that molar pregnancy represented retained products of conception after elective pregnancy termination, STR profiles from molar pregnancy and previous products of conception were compared. Short tandem repeats genotyping is a useful molecular genetic method in the differential diagnosis of partial hydatidiform moles, where clinical-pathological findings are frequently ambiguous.

Triploid pregnancy-Clinical implications.

Triploidy is a life-limiting genetic aberration resulting from an extra haploid set of chromosomes of paternal (diandric triploidy) or maternal origin (digynic triploidy). Triploidy affects around 1%-2% of all conceptions. The majority of cases is miscarried at early developmental stages. In consequence of genomic imprinting, parental origin affects the phenotype of triploid pregnancies as well as the prevalence and spectrum of related maternal complications. Distinctive ultrasound features of both triploid phenotypes as well as characteristic patterns of biochemical markers may be useful in diagnosis. Molecular confirmation of the parental origin allows to predict the risk of complications, such as gestational trophoblastic neoplasia, hyperthyroidism, hypertension, or preeclampsia associated with the paternal origin of triploidy. Diagnosis of partial hydatidiform mole associated with diandric triploidy is challenging especially in the first trimester pregnancy loss due to the limitations of both histopathology and ultrasound. We present important clinical aspects of triploid pregnancies and indicate unresolved issues demanding further studies.

DNA Genotyping of Suspected Partial Hydatidiform Moles Detects Clinically Significant Aneuploidy.

The diagnosis of partial hydatidiform mole (PM) is especially difficult early in gestation as the morphology of nonmolar abortus (NMA) may mimic PM. Molecular genotyping analysis can definitively identify diandric triploidy, the genetic basis for PM, whereas NMA cases show a biparental inheritance. This 4-year retrospective study sought to determine what proportion of NMA cases which were initially suspected as being PM was aneuploid, and whether this knowledge of aneuploidy status is clinically useful. Cases with atypical villous morphology on histopathology suggestive of PM were subjected to molecular genotyping. The genotyping testing panel contained 19 highly polymorphic short-tandem repeat markers on chromosomes 13, 18, 21, X, and Y and 2 nonpolymorphic markers for sex determination. Informative molecular genotyping analysis was available in 127 cases (56 PMs and 71 NMAs). Aneuploidy was detected in 15/71 of NMAs (21.1%): 7 cases of trisomy 18, 3 of trisomy 13, 1 of trisomy 21, and 4 of monosomy X. It is concluded that most cases of aneuploid NMAs (11/15) detected by molecular genotyping analysis of atypical villous morphology cases are sporadic in type with a low or age-related recurrence risk. Nevertheless, this information may be useful in subsequent counseling and in women undergoing in vitro fertilization by directing preimplantation genetic diagnosis in subsequent cycles. In about a quarter of aneuploid NMAs (4/15) specific aneuploidy types which may be caused by unbalanced familial chromosome rearrangement are identified and are clinically important to patient management. Detection of clinically relevant aneuploidy in NMAs represents an important secondary benefit to the adoption of molecular genotyping analysis in suspected PM.

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

AimsHydatidiform moles (HMs) are genetically abnormal conceptions, associated with increased risk of gestational trophoblastic neoplasia. Diagnosis is usually based on histopathological criteria but in a minority definitive histological diagnosis is...

Epidemiological Factors and Pathomorphologic Characteristics of Hydatidiform Mole

Introduction: Hydatidiform mole is a gestational trophoblastic disease characterized by a range of disorders of abnormal trophoblastic proliferation.Methods: This was a retrospective study of 70 singletone pregnancies until the 12th week of gestational age diagnosed with hydatidiform mole or spontaneously aborted physiological pregnancy. The pregnantwomen had almost similar demographic features and were divided into two groups. 35 pregnant women with a molar pregnancy were included in the study group; while 35 pregnant women with physiologicalpregnancy spontaneously aborted were included in the control group. Analyzed parameters included a pregnant woman’s age, blood type, parity and previous pregnancies (course and outcomes).Results: In the study group 11.43% of cases had hydatidiform mola during previous pregnancies as well as the advanced average gestational age of an ongoing pregnancy (9.63±1.83 in contrast to 8.25±2.03in the control group). The pregnant women with the hydatidiform mole were reported to have statistically significantly greater number of irregular villous borders (71.43%); slightly enlarged villi (54.29%); moderatedpresence of cisterns (65.71%) as well as mild avascularisation of villi (57.14%).Conclusion: It was concluded that a previous molar pregnancy represents the highest risk for hydtidiforme mole and the pathomorphologic analysis of vilous changes can be a reliable parameter for establishingproper diagnosis of partial hydatidiform mole.

Revaluation of cytogenetic diagnosis of partial hydatidiform moles by short tandem repeats polymorphism analysis

Revaluation of cytogenetic diagnosis of partial hydatidiform moles by short tandem repeats polymorphism analysis

Partial Hydatidiform Mole

Histologic diagnosis of partial hydatidiform mole (PHM) continues to be problematic, and DNA genotyping has recently become cost-effective for precise separation of PHM from its mimics. We performed a comprehensive reevaluation of histologic parameters of PHM in correlation with DNA genotyping. A total of 143 early abortion specimens were subjected to genotyping as part of the routine workup, resulting in 60 cases of PHM, 52 cases of various chromosomal trisomies, and 31 cases of nonmolar diploid gestations. All available hematoxylin and eosin slides were reviewed retrospectively by 2 gynecologic pathologists blinded to the genotyping results. Significant histologic overlaps were present among genetically confirmed PHM, hydropic abortions, and chromosomal trisomy syndromes. The following morphologic parameters emerged with diagnostic significance for PHM: villus size, presence of 2 villous populations, round or oval pseudoinclusions, at least moderate villous hydrops, cistern formation, and trophoblastic hyperplasia. The most sensitive morphologic features for PHM included villous hydrops (86% sensitivity) or the presence of at least 1 of the following 3 parameters: 2 villous populations, round or oval pseudoinclusions, and cisterns (84% sensitivity). The presence of cisterns and villous size ≥2.5 mm had the highest positive predictive value (90%) for PHM. In conclusion, no single or combined morphologic features are sufficient for definitive diagnosis of PHM. The presence of any one of the following histologic findings should prompt DNA genotyping workup to rule out PHM: round or oval pseudoincludions, cistern formation, 2 populations of villi, and a villous size of ≥2.5 mm.

Metastatic trophoblastic disease after an initial diagnosis of partial hydatidiform mole: genotyping and chromosome in situ hybridization analysis.

Hydatidiform mole (HM) is classified into partial (PHM) and complete (CHM) subtypes according to histopathologic and genetic criteria. Traditionally, it is believed that PHM carries a better prognosis and rarely develops metastasis. However, making a distinction between PHM and CHM using histologic criteria alone may be difficult. The authors used fluorescent microsatellite genotyping following laser-capture microdissection and chromosome in situ hybridization (CISH) to perform a genetic analysis of six patients with histologically diagnosed PHM who subsequently developed metastatic gestational trophoblastic neoplasia. Patients ranged in age from 25 years to 44 years (mean, 33.2 years). The gestational age of the molar pregnancies varied from 6 weeks to 20 weeks. All six patients had pulmonary metastases, with additional liver metastasis in two patients. Among the six patients with histologically diagnosed PHM, it was found that four patients had a diploid karyotype and no maternal alleles; thus, their neoplasms actually were CHM. Maternal genome was detected in the remaining two patients consistent with a biparental origin, and these patients had a triploid karyotype. CISH findings in all patients correlated with the genotyping findings. Triploid HM had maternally derived alleles, whereas diploid HMs were purely androgenetic. In the current study, which may be the largest series of genetically analyzed metastatic PHMs to date, the difficulty of histologic distinction between PHM and CHM was confirmed. Molecular analysis may help to refine the classification of HM. Although the current findings support the belief that most aggressive trophoblastic diseases are derived from CHM, a small number of PHMs do progress to metastatic disease. Thus, the current study reaffirmed that all patients with HM should be followed closely irrespective of histologic subclassification.

Diploid hydatidiform moles with fetal red blood cells in molar villi. 2--Genetics.

The purpose of this study was to determine the genetic origin of a series of seven diploid hydatidiform moles with fetal red blood cells in the molar villi, normally a characteristic feature of triploid, partial hydatidiform moles. DNA was prepared from formalin-fixed, paraffin-embedded blocks of molar tissue and blood from the patient and her partner. The genetic origin of molar tissue was determined by comparing microsatellite polymorphisms in molar and parental tissue following polymerase chain reaction (PCR) amplification of DNA. In six cases, the hydatidiform mole was shown to be androgenetic in origin and therefore genetically to be a complete hydatidiform mole. In one case, the hydatidiform mole was of biparental origin, having both a maternal and a paternal contribution to the genome. We conclude that fetal red blood cells may be observed in the villi of complete hydatidiform moles. In cases where the degree of trophoblastic hyperplasia and ploidy is suggestive of a complete hydatidiform mole, the presence of fetal red blood cells alone should not be considered indicative of a diagnosis of partial hydatidiform mole.

Gestational Trophoblastic Tumours Following Initial Diagnosis of Partial Hydatidiform Mole

Gestational Trophoblastic Tumours Following Initial Diagnosis of Partial Hydatidiform Mole

Gestational Trophoblastic Tumours Following Initial Diagnosis of Partial Hydatidiform Mole

BAGSHAWE, K. D.; LAWLER, S. D.; PARADINAS, F. J.; DENT, J.; BROWN, P.; BOXER, G. M. Author Information

Gestational trophoblastic tumours following initial diagnosis of partial hydatidiform mole

11 patients registered with an initial diagnosis of partial hydatidiform mole (PHM) subsequently required chemotherapy for a gestational trophoblastic tumour. In a retrospective review by histopathological examination and measurement of DNA ploidy, the diagnosis was confirmed as PHM in 5 cases and revised to complete hydatidiform mole in 4; in 2 cases there was no evidence of a molar pregnancy. 4 of the patients with PHM had no other known pregnancy before the gestational trophoblastic tumour and in 2 of these patients the tumour was diagnosed histologically as choriocarcinoma. Not all patients in whom PHM was diagnosed at referring hospitals proved to have the condition. Although the risk of a patient with PHM requiring chemotherapy for gestational trophoblastic tumour is of the order of 1 in 200, compared with 1 in 12 after a complete mole, there is no justification for excluding a patient from follow-up after the evacuation of a PHM.

Ultrasound Diagnosis of Partial Hydatidiform Mole

Ultrasound Diagnosis of Partial Hydatidiform Mole