A high-risk gestational trophoblastic neoplasia derived from a complete hydatidiform mole with coexisting fetus identified by short tandem repeats analysis: A case report

ObjectiveTo assess the strategy and value of centralized surveillance of hydatidiform mole at a regional hospital in China and to investigate the necessity of prophylactic chemotherapy for high-risk complete hydatidiform mole.MethodsBetween February 2013 and February 2020, all women with hydatidiform mole in Dalian Women’s and Children’s Medical Center (Group) were registered for surveillance and treatment when indicated. Women with complete hydatidiform mole were categorized into low-risk and high-risk groups according to the criteria from Song Hongzhao’s trophoblastic neoplasia. Outcomes and treatments were analyzed retrospectively.ResultsIn total, 703 women with hydatidiform mole were registered for surveillance with a follow-up rate of 97.9% (688/703). 680 women were enrolled and 52 (7.6%) developed post-molar gestational trophoblastic neoplasia, all with low-risk International Federation of Gynecology and Obstetrics (FIGO) scores 0–5. Post-molar gestational trophoblastic neoplasia was diagnosed in 12.3% (51/413) of patients with complete hydatidiform moles and 0.4% (1/263) of patients were diagnosed with partial hydatidiform moles (χ2=32.415, p<0.001). Post-molar gestational trophoblastic neoplasia was diagnosed in 27.7% (28/101) of the high-risk complete hydatidiform mole group and in 7.4% (23/312) of the low-risk complete hydatidiform mole group (χ2=29.196, p<0.001). No difference in the pre-treatment assessments of patients with post-molar gestational trophoblastic neoplasia was found between the low-risk and high-risk complete hydatidiform mole groups (all p>0.05). All 52 patients with post-molar gestational trophoblastic neoplasia were cured, with a complete response rate of 61.2% (30/49) with first-line single-agent chemotherapy.ConclusionsA centralized hydatidiform mole surveillance program is feasible and effective and may improve the prognosis of patients with post-molar gestational trophoblastic neoplasia. Prophylactic chemotherapy is not recommended for women with high-risk complete hydatidiform mole with adequate surveillance.

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Twins from different fathers: A heteropaternal superfecundation case report in Colombia

Biomédica ◽

10.7705/biomedica.5100 ◽

2020 ◽

Vol 40 (4) ◽

pp. 604-608

Author(s):

Fernanda Mogollón ◽

Andrea Casas-Vargas ◽

Fredy Rodríguez ◽

William Usaquén

Keyword(s):

Case Report ◽

Short Tandem Repeats ◽

Tandem Repeats ◽

Low Frequency ◽

Sperm Cells ◽

Dizygotic Twins ◽

Paternity Index ◽

Autosomal Short Tandem Repeats ◽

Commercial Kits ◽

Short Tandem

Heteropaternal superfecundation is an extremely rare phenomenon that occurs when a second ova released during the same menstrual cycle is additionally fertilized by the sperm cells of a different man in separate sexual intercourse.In August, 2018, the Grupo de Genética de Poblaciones e Identificación at Universidad Nacional de Colombia received a request to establish the paternity of a pair of male twins with genetic markers. The following analyses were performed: amelogenin gene, autosomal short tandem repeat (STR), and Y-STR analyses by means of human identification commercial kits, paternity index, and the probability of paternity calculation and interpretation. A paternity index of 2.5134E+7 and a probability of paternity of 99.9999% for twin 2 were obtained while 14 out of 17 Y-chromosome markers and 14 out of 21 autosomal short tandem repeats were excluded for twin 1. The results indicated that the twins have different biological fathers.Although heteropaternal superfecundation is rarely observed among humans given its low frequency, in paternity disputes for dizygotic twins it is mandatory to demand the presence of the two twins in the testing to avoid wrong conclusions.

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Faculty Opinions recommendation of Abundant contribution of short tandem repeats to gene expression variation in humans.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.725994101.793513449 ◽

2016 ◽

Author(s):

Melanie Bahlo

Keyword(s):

Gene Expression ◽

Short Tandem Repeats ◽

Tandem Repeats ◽

Gene Expression Variation ◽

Expression Variation ◽

Short Tandem

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Faculty Opinions recommendation of Identification of embryo-fetal cells in celomic fluid using morphological and short-tandem repeats analysis.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.726727769.793540302 ◽

2017 ◽

Author(s):

Eliezer Rachmilewitz ◽

Eitan Fibach

Keyword(s):

Short Tandem Repeats ◽

Tandem Repeats ◽

Fetal Cells ◽

Short Tandem

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Population Genetics of Y-Chromosome Short Tandem Repeats in Humans

Journal of Molecular Evolution ◽

10.1007/pl00006229 ◽

1997 ◽

Vol 45 (3) ◽

pp. 265-270 ◽

Cited By ~ 49

Author(s):

Anna Pérez-Lezaun ◽

Francesc Calafell ◽

Mark Seielstad ◽

Eva Mateu ◽

David Comas ◽

...

Keyword(s):

Population Genetics ◽

Y Chromosome ◽

Short Tandem Repeats ◽

Tandem Repeats ◽

Short Tandem

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Gestational trophoblastic neoplasia: Retrospective analysis of clinical profile, treatment pattern and outcome

10.1055/s-0039-1685377 ◽

2016 ◽

Author(s):

Paramjeet Kaur ◽

Ashok K. Chauhan ◽

Anil Khurana ◽

Yashpal Verma ◽

Nupur Bansal

Keyword(s):

High Risk ◽

Risk Group ◽

Hydatidiform Mole ◽

Single Agent ◽

High Risk Group ◽

Treatment Pattern ◽

Gestational Trophoblastic Neoplasia ◽

Trophoblastic Tumor ◽

Villous Trophoblast ◽

Invasive Mole

Background: Gestational trophoblastic disease is a spectrum of cellular proliferation arising from the placental villous trophoblast. Gestational triphoblastic neoplasia (GTN) is a collective term for GTD that invade locally or metastasize. GTD includes hydatidiform mole (complete and partial) and GTN include invasive mole, choricocarcinoma, placental site trophoblastic tumor and epitheliod trophoblastic tumor. Aim: To evaluate clinicopathological profile, treatment pattern and clinical outcome in patients with gestational trophoblastic neoplasia (GTN). Materials and Methods: Twelve cases of gestational trophoblastic neoplasia treated between 2012 to November 2015 in deptt of Radiotherapy – II, PGIMS, Rohtak were evaluated in this retrospective study. Data was analyzed on the basis of age, histopathology, stage, type of treatment received and treatment related toxicities. Disease free survival was estimated. Results: Out of 12 women 7 (58 %) had hydatidiform mole, 4 (33%) invasive mole and 01 (8%) had choriocarcinoma. All the cases were given chemotherapy. Two patients had low risk disease. Among high risk group seven patients had score of less than 7 and five patients had risk score of 7 or higher. Five patients were given single agent methotrexate, seven patients received multidrug regimens. All patients are on regular follow up. One patient (high risk group) expired as she did not receive treatment. Conclusion: GTN are rare and proliferative disorders with proper diagnosis and treatment most of the cases are amenable to treatment with favorable outcome.

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Conditional Genotypic Probabilities for Microsatellite Loci

Genetics ◽

10.1093/genetics/155.4.1973 ◽

2000 ◽

Vol 155 (4) ◽

pp. 1973-1980

Author(s):

Jinko Graham ◽

James Curran ◽

B S Weir

Keyword(s):

Short Tandem Repeats ◽

Tandem Repeats ◽

Dirichlet Distribution ◽

Forensic Dna ◽

Match Probability ◽

Microsatellite Genotype ◽

Allelic State ◽

Forensic Assessments ◽

Dna Profiles ◽

Short Tandem

Abstract Modern forensic DNA profiles are constructed using microsatellites, short tandem repeats of 2–5 bases. In the absence of genetic data on a crime-specific subpopulation, one tool for evaluating profile evidence is the match probability. The match probability is the conditional probability that a random person would have the profile of interest given that the suspect has it and that these people are different members of the same subpopulation. One issue in evaluating the match probability is population differentiation, which can induce coancestry among subpopulation members. Forensic assessments that ignore coancestry typically overstate the strength of evidence against the suspect. Theory has been developed to account for coancestry; assumptions include a steady-state population and a mutation model in which the allelic state after a mutation event is independent of the prior state. Under these assumptions, the joint allelic probabilities within a subpopulation may be approximated by the moments of a Dirichlet distribution. We investigate the adequacy of this approximation for profiled loci that mutate according to a generalized stepwise model. Simulations suggest that the Dirichlet theory can still overstate the evidence against a suspect with a common microsatellite genotype. However, Dirichlet-based estimators were less biased than the product-rule estimator, which ignores coancestry.

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