Heterozygous/dispermic complete mole confers a significantly higher risk for post-molar gestational trophoblastic disease

Zheng, Xing-Zheng; Qin, Xuying; Chen, Suwen; Wang, Peng; Zhan, Yɑnɡ; Zhong, Pingping; Buza, Natália; Jin, Yulan; Wu, Bingquan; Hui, Pei

doi:10.1038/s41379-020-0566-4

Cited by 22 publications

(9 citation statements)

References 47 publications

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“…Risk factors related to gestational trophoblastic disease are: under 20 years or older than 35 years, enlarged uterus, bilateral luteal cysts, blood types (A and AB), recurrent pregnancy loss, hyperthyroidism, molar pregnancy prior and use of contraceptives methods [9,10]. The only factor that matches this case report is blood group type.…”

Section: Discussionsupporting

confidence: 66%

Hydatidiform Mole Coexisting with Healthy and Alive Fetus at Birth: Case Report in Mexico

Mireles

Alvarez

Lopez

et al. 2021

AJMAH

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Aims: To describe a case of hydatidiform mole coexisting with healthy and alive fetus at birth in Mexico. Presentation of Case: A 35 years old pregnant patient at 18+5 weeks of gestational age and a viable fetus by ultrasound, with atypical pneumonia, plus scant bilateral pleural effusion and partial mole implants on admission to hospital. At week 39 of gestation, the pregnancy was interrupted abdominally; a gestation product was obtained, alive, female, and without malformations. The patient did not present complications. The histopathological report of the placenta was compatible with a partial mole. Discussion: Gestational trophoblastic disease includes partial hydatidiform mole, its occurrence in coexistence with alive and healthy fetus at birth is 0.005-0.01% respect to the total number of pregnancies. The viability of the term of pregnancy will depend on maternal comorbidities, fetalsss well-being and accessible medical surveillance. The ultrasound is the main diagnostic tool. Clinical monitoring is of vital importance after the end of pregnancy, mainly in mother, due to the risk of developing metastatic disease and recurrence of molar pregnancy. Conclusion: The case report described is relevant, due to its infrequency. In addition, the imaging findings, emphasizes the importance of a complete and adequate evaluation of the placenta and the fetus, in viable gestation conditions in coexistence with partial mole.

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Section: Discussionsupporting

confidence: 66%

Hydatidiform Mole Coexisting with Healthy and Alive Fetus at Birth: Case Report in Mexico

Mireles

Alvarez

Lopez

et al. 2021

AJMAH

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“…The relationship between the developing potential of GTN and genetic constitutions has been discussed for several decades. The risk of developing GTN is higher for dispermic CHMs than for monospermic CHM 8,9 . Our previous study did not support this idea (monospermic CHM; 14%[29/204] vs. dispermic CHM; 21%[6/28], P = 0.40, Fisher's exact test) 6 .…”

Section: Discussionmentioning

confidence: 96%

“…We reviewed the STR electropherograms of 31 heterozygous and 236 homozygous androgenetic CHMs. Among 16 loci of PowerPlex 16 system, the medians and ranges of two allelic loci of patients' blood and CHMs in androgenetic heterozygous CHMs were 12 (8)(9)(10)(11)(12)(13)(14) and 7 (3-11), respectively (Supplementary Table S4 online). The minimum number of two allelic loci in heterozygous CHM was 3.…”

Section: Relationship Between the Incidence Of Gtn And Additional Matmentioning

confidence: 99%

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Parental contribution to trisomy in heterozygous androgenetic complete moles

Usui

Sato

Shozu

2020

Sci Rep

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Complete hydatidiform moles (CHMs) comprise a proliferative trophoblastic disorder and are known to be androgenetic and diploid. Androgenetic CHMs are classified as having monospermic and dispermic origins. Rarely, some CHMs have other genetic constitutions, such as biparental diploid or tetraploid. Previous studies have shown the possibility that androgenetic heterozygous CHMs have an additional chromosome with high frequency. This study aimed to comprehensively analyse the molecular karyotyping of androgenetic dispermic CHMs and the parental contribution of their additional chromosomes. Single-nucleotide polymorphism arrays were performed with the genomic DNA of CHMs and patients. The B allele frequency and selected B allele frequency plotting of CHM were visualised. Among the 31 dispermic CHMs, eight showed trisomy and one showed double trisomy; of the 10 additional chromosomes, seven were of maternal original and three were of paternal origin. In addition, three disomic chromosomes comprised one maternal and one paternal chromosome, although these should theoretically have had two paternal chromosomes in the case of androgenetic CHMs. The subclassification of heterozygous CHMs, with or without maternal contribution, is a new approach and could be a candidate indicator of gestational trophoblastic neoplasia risk.

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“…Heterozygous dispermic CHMs are clinically more aggressive than homozygous monospermic CHM and have a significantly higher risk of neoplastic transformation. 62 These moles result in higher mean hCG concentrations and a threefold increased risk of progression to GTN. [62][63][64] Rare cases of tetraploid CHM also exist and require the same close surveillance as diploid CHM.…”

Section: Genetic Classification Of a Hydatidiform Molementioning

confidence: 99%

Advances in the diagnosis and early management of gestational trophoblastic disease

Joyce

Fitzgerald

McCarthy

et al. 2022

bmjmed

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Gestational trophoblastic disease describes a group of rare pregnancy related disorders that span a spectrum of premalignant and malignant conditions. Hydatidiform mole (also termed molar pregnancy) is the most common form of this disease. Hydatidiform mole describes an abnormal conceptus containing two copies of the paternal genome, which is classified as partial when the maternal genome is present or complete when the maternal genome is absent. Hydatidiform mole typically presents in the first trimester with irregular vaginal bleeding and can be suspected on ultrasound but confirmation requires histopathological evaluation of the products of conception. Most molar pregnancies resolve without treatment after uterine evacuation, but occasionally the disease persists and develops into gestational trophoblastic neoplasia. Close monitoring of women after molar pregnancy, with regular measurement of human chorionic gonadotrophin concentrations, allows for early detection of malignancy. Given the rarity of the disease, clinical management and treatment is best provided in specialist centres where very high cure rates are achievable. This review looks at advances in the diagnosis and early management of gestational trophoblastic disease and highlights updates to disease classification and clinical guidelines. Use of molecular genotyping for improved diagnostic accuracy and risk stratification is reviewed and future biomarkers for the earlier detection of malignancy are considered.

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Heterozygous/dispermic complete mole confers a significantly higher risk for post-molar gestational trophoblastic disease

Cited by 22 publications

References 47 publications

Hydatidiform Mole Coexisting with Healthy and Alive Fetus at Birth: Case Report in Mexico

Hydatidiform Mole Coexisting with Healthy and Alive Fetus at Birth: Case Report in Mexico

Parental contribution to trisomy in heterozygous androgenetic complete moles

Advances in the diagnosis and early management of gestational trophoblastic disease

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