The use of uterine artery Doppler studies as predictors for postmolar gestational trophoblastic neoplasia / Philippine Journal of Obstetrics and Gynecology

Background@#Gestational trophoblastic neoplasia (GTN) is considered one of the most curable malignancies, especially when diagnosis and treatment are commenced early. Identifying predictors for the development of GTN will enable prompt management equating to an excellent prognosis.@*Objectives@#The objectives of this study were to determine the validity of uterine artery Doppler parameters (UADPs) as predictors for postmolar GTN, compare UADP values before and after evacuation, determine cutoff values and relationship with beta‑human chorionic gonadotropin (hCG) levels.@*Materials and methods@#This was a prospective cohort study, which included histopathologically confirmed hydatidiform mole (HM) patients who underwent suction curettage. UADPs (pulsatility index (PI), resistive index, and systolic/diastolic [S/D] ratio) were measured preevacuation, 4 weeks postevacuation, and 6 weeks postevacuation. Patients were followed up to determine whether they will develop postmolar GTN or not.@*Results@#A total of 31 HM patients were admitted during the study period, 84% (26/31) of whom underwent suction curettage. Of these, 92% (24/26) had histopathology of complete HM and were recruited. However, only 17 patients followed up and completed the study. Results showed that there was an increasing trend of the UADP from preevacuation to 6 weeks postevacuation and the trend between those with and without postmolar GTN was statistically significant. There was also an inverse relationship between the UADP and baseline β‑hCG values. UADP showed lower values among patients who developed postmolar GTN compared to those who did not. The cutoff values recommended by the area under curve (AUC) that can be a possible predictor were 4th‑week right PI of 2.14 (AUC = 0.71) and right S/D ratio of 2.60 (AUC = 0.73) and 6th‑week left PI of 2.80 (AUC = 0.70) and right PI of 2.53 (AUC = 0.74).@*Conclusion@#Neoangiogenesis, a hallmark of malignancy, is correlated with invasive disease and will show increased myometrial vascularization with lower uterine artery indices. Doppler ultrasound may be a useful tool for postmolar follow‑up and GTN diagnosis. However, the small sample size in this study is a limitation and a larger multicenter study is recommended.

Precision medicine in gestational trophoblastic disease / Philippine Journal of Obstetrics and Gynecology

@#Precision medicine is a form of medicine that utilizes information about a person’s own genes to prevent, diagnose, or treat disease. In trophoblastic disease, precision medicine is important for accurate diagnosis, risk stratification, prognostication, and management. Immunohistochemistry, particularly p57kip2, has become an important ancillary procedure for the accurate identification of complete hydatidiform mole (HM). Molecular genotyping, on the other hand, is now considered the gold standard for the accurate classification of HM. Both tests are important for prognostication and the determination of the appropriate follow‑up plan. For gestational trophoblastic neoplasia, immunohistochemical markers can confirm the histologic diagnosis of its various types. Molecular genotyping differentiates gestational from nongestational tumors with overlapping histology and allows for precise identification of the index or causative pregnancy of a choriocarcinoma.

Double trouble in an ectopic pregnancy / Philippine Journal of Obstetrics and Gynecology

@#Gestational trophoblastic diseases are histologically different types of tumors originating from the placenta with an incidence of 0.2–5.8/1000 pregnancies. Ectopic pregnancy is the implantation of the fertilized ovum outside the uterine cavity, and a 0.64% incidence is reported. Ectopic cornual pregnancy and molar pregnancy are rare cases, and a combination of these two rare entities occurring simultaneously is even rare and very few cases have been reported in the literature. A cornual pregnancy refers to the implantation and development of a gestational sac in one of the upper and lateral portions of the uterus, whereas an interstitial pregnancy is a gestational sac that implants within the proximal, intramural portion of the fallopian tube that is enveloped by the myometrium. We present one of the rare combinations of molar pregnancy and cornual/interstitial ectopic pregnancy in a 30‑year‑old G3 P1 who presented with a triad of amenorrhea, vaginal bleeding, and abdominal pain. Laparotomy was done in view of an ultrasound which was suggestive of a well‑defined complex thick‑walled lesion of size 3.2 × 3.3 with a gestational sac and no cardiac activity in the right fallopian tube/adnexa suggesting tubal ectopic pregnancy. Beta‑human chorionic gonadotropin (β‑hCG) levels were done and noted to be as high as 9998 mIU/mL. Intraoperatively, a cornual ectopic pregnancy was found with no hemoperitoneum which was excised. Histopathology showed chorionic villi with variable size and hydropic change, myxoid stromal changes, and cistern formation with polar trophoblastic proliferation, based on which a diagnosis of molar pregnancy was made. Although ultrasonography and higher than usual serum β‑hCG levels are diagnostic of uterine molar pregnancy, they do not yield a proper diagnosis in ectopic molar pregnancy, hence, making it difficult to distinguish between an early ectopic molar pregnancy from a nontrophoblastic tubal pregnancy. The final diagnosis is usually made only after histopathology. A high degree of clinical suspicion of cornual pregnancy followed by histopathological examination of the products of conception is the standard for arriving at an appropriate diagnosis. Serial serum β‑hCG level follow‑up is recommended to rule out its malignant potential.

O papel da ultrassonografia na doença trofoblástica gestacional / The role of ultrasonography in gestational trophoblastic disease

A doença trofoblástica gestacional (DTG) agrupa um conjunto de anomalias do desenvolvimento trofoblástico, que incluem formas clínicas benignas como a mola hidatiforme completa e parcial, o nódulo do sítio placentário atípico e o sítio trofoblástico exagerado, e malignas, caracterizando a neoplasia trofoblástica gestacional (NTG). De modo geral, seu diagnóstico precoce antecipa complicações clínicas que podem estar associadas a near miss obstétrico. Diante da suspeição clínica, é a ultrassonografia (US) precoce o exame de escolha pa ra o diagnóstico, associado à dosagem sérica de gonadotrofina coriônica humana, capaz de minimizar a ocorrência de complicações clínicas associadas à gravidez molar. Nos casos de NTG, é a US também de grande valia para estadiamento, avaliação de prognóstico e acompanhamento da mulher tratada para DTG. Este estudo faz uma revisão sobre o papel da US na DTG, sendo importante para familiarizar os tocoginecologistas com essa doença e salientar o papel da US consoante as melhores práticas clínicas.(AU)

Gestational trophoblastic disease (GTD) includes a set of trophoblastic developmental anomalies, which include benign forms such as complete and partial hydatidiform mole, atypical placental site nodule and exaggerated trophoblastic site, and malignant forms, characterizing gestational trophoblastic neoplasia (GTN). In general, its early diagnosis anticipates clinical complications that could be associated with obstetric near miss. In view of clinical suspicion, early ultrasonography (US) and serum levels of human chorionic gonadotropin are the best diagnostic screening techniques, able to minimizing the occurrence of medical complications associated with molar pregnancy. In cases of GTN, US is also of great value for staging, assessment of prognosis and follow-up of women treated for GTN. This study reviews the role of US in GTD, being important to familiarize tocogynecologists with this disease and highlight the role of US according to best clinical practices to minimize the morbidity of these patients and maximize the remission rates of this disease.(AU)

Clinical Presentation, Treatment Outcomes, and Resistance-related Factors in South American Women with Low-risk Postmolar Gestational Trophoblastic Neoplasia / Apresentação clínica, resultados do tratamento e fatores relacionados à resistência em mulheres sul-americanas com neoplasia trofoblástica gestacional pós-molar de baixo risco

Abstract Objective There are few multinational studies on gestational trophoblastic neoplasia (GTN) treatment outcomes in South America. The purpose of this study was to assess the clinical presentation, treatment outcomes, and factors associated with chemoresistance in low-risk postmolar GTN treated with first-line single-agent chemotherapy in three South American centers. Methods Multicentric, historical cohort study including women with International Federation of Gynecology and Obstetrics (FIGO)-staged low-risk postmolar GTN attending centers in Argentina, Brazil, and Colombia between 1990 and 2014. Data were obtained on patient characteristics, disease presentation, and treatment response. Logistic regression was used to assess the relationship between clinical factors and resistance to first-line single-agent treatment. A multivariate analysis of the clinical factors significant in univariate analysis was performed. Results A total of 163 women with low-risk GTN were included in the analysis. The overall rate of complete response to first-line chemotherapy was 80% (130/163). The rates of complete response to methotrexate or actinomycin-D as first-line treatment, and actinomycin-D as second-line treatment postmethotrexate failure were 79% (125/157), 83% (⅚), and 70% (23/33), respectively. Switching to second-line treatment due to chemoresistance occurred in 20.2% of cases (33/163). The multivariate analysis demonstrated that patients with a 5 to 6 FIGO risk score were 4.2-fold more likely to develop resistance to first-line single-agent treatment (p= 0.019). Conclusion 1) At presentation, most women showed clinical characteristics favorable to a good outcome, 2) the overall rate of sustained complete remission after first-line single-agent treatment was comparable to that observed in developed countries, 3) a FIGO risk score of 5 or 6 is associated with development of resistance to first-line single-agent chemotherapy.

Resumo Objetivo Existem poucos estudos multinacionais sobre os resultados do tratamento da neoplasia trofoblástica gestacional (NTG) na América do Sul. O objetivo deste estudo foi avaliar a apresentação clínica, os resultados do tratamento e os fatores associados a casos de quimiorresistência em NTG pós-molar de baixo risco tratados com quimioterapia de agente único de primeira linha em três centros sul-americanos. Métodos Estudo multicêntrico de coorte histórica incluindo mulheres com NTG pós-molar de baixo risco com estadiamento International Federation of Gynecology and Obstetrics (FIGO) em centros de atendimento na Argentina, Brasil e Colômbia entre 1990 e 2014. Foram obtidos dados sobre as características do paciente, apresentação da doença e resposta ao tratamento. A regressão logística foi usada para avaliar a relação entre fatores clínicos e resistência ao tratamento de primeira linha com agente único. Foi realizada uma análise multivariada dos fatores clínicos significativos na análise univariada. Resultados Cento e sessenta e três mulheres com NTG de baixo risco foram incluídas na análise. A taxa global de resposta completa à quimioterapia de primeira linha foi de 80% (130/163). As taxas de resposta completa ao metotrexato ou actinomicina-D como tratamento de primeira linha e actinomicina-D como tratamento de segunda linha após falha do metotrexato foram 79% (125/157), 83% (⅚) e 70% (23/33), respectivamente. A mudança para o tratamento de segunda linha por quimiorresistência ocorreu em 20,2% dos casos (33/163). A análise multivariada demonstrou que pacientes com pontuação de risco FIGO de 5 a 6 foram 4,2 vezes mais propensos a desenvolver resistência ao tratamento com agente único de primeira linha (p= 0,019). Conclusão 1) Na apresentação, a maioria das mulheres demonstrou características clínicas favoráveis a um bom resultado, 2) a taxa geral de remissão completa sustentada após o tratamento de primeira linha com agente único foi comparável à de países desenvolvidos, 3) um escore de risco FIGO de 5 ou 6 está associado ao desenvolvimento de resistência à quimioterapia de agente único de primeira linha.

Sad fetus syndrome: A case report / Philippine Journal of Obstetrics and Gynecology

@#Sad fetus syndrome is a rare gestational trophoblastic disease wherein a hydatidiform mole coexists with a live fetus. We report a case of a 40‑year‑old G4P2 (2012) with 29 weeks gestational age who came in with vaginal bleeding and labor pains. A previous ultrasound done at 16 weeks of gestation showed a live fetus, a normal placenta, and a focal multicystic uterine mass. The beta‑human chorionic gonadotropin level was 1,500,000 mIU/mL. She delivered a live preterm female fetus weighing 900 g by partial breech extraction. The placenta was grossly normal. Postpartum hemorrhage secondary to uterine atony was encountered and a total hysterectomy with bilateral salpingectomy was performed. Cut section of the specimen revealed molar tissue at the anterofundal area with evidence of gross myometrial invasion. The histopathologic finding was consistent with a diagnosis of partial hydatidiform mole. This paper describes the incidence, pathology, clinical presentation, diagnosis, treatment, and postpartum course of this rare condition.

Embarazo molar cervical: diagnóstico y tratamiento quirúrgico con legrado uterino y ligadura de arterias cervicales / Cervical molar pregnancy: diagnosis and surgical treatment with uterine curettage and cervical arteries ligation

Resumen Reportamos el caso de una mujer de 28 años con atraso menstrual de 14 días, diagnosticada en el servicio de urgencia obstétrica del Hospital Félix Bulnes con un embarazo ectópico cervical mediante ultrasonido, en contexto de metrorragia grave. El tratamiento consistió en legrado uterino segmentario más ligadura de arterias cervicales. El estudio histopatológico reveló una mola hidatiforme parcial en el producto del curetaje. La paciente evolucionó favorablemente sin requerir más intervenciones. Este caso da cuenta del exitoso manejo de un embarazo cervical con tratamiento quirúrgico, dando una oportunidad de preservar la fertilidad de la paciente.

Abstract We are reporting the case of a 28-year-old woman with 14-day menstrual delay diagnosed, in the obstetric emergency department of Félix Bulnes Hospital, with a cervical pregnancy through ultrasound, in the context of severe metrorrhagia. The treatment consisted in uterine curettage and ligation of cervical arteries. A histopathological study revealed a partial hydatidiform mole in the curettage product. The patient evolved favorably without other interventions. This case its an example of the successful management of a cervical pregnancy with surgical treatment, giving a chance of preserving the fertility of the patient.

Beta-human chorionic Gonadotropin levels as early predictor for progression to Gestational Trophoblastic Neoplasia after molar pregnancy evacuation at a Philippine tertiary hospital / Philippine Journal of Obstetrics and Gynecology

Objective@#This study aimed to determine if the beta-human chorionic gonadotropin (hCG) levels during the first 5 weeks after a molar evacuation predict progression to gestational trophoblastic neoplasia (GTN).@*Materials and Methods@#This was a retrospective cohort study of complete mole cases managed at a Philippine tertiary hospital from January 2009 to December 2018. Extracted data were analyzed using applicable statistical tools. The level of significance was set at a P < 0.05 using two-tailed comparisons. @*Results@#One hundred and fifty-five complete patient records were available for review. Disease progression in 15.48% of cases while regression in 84.52% were noted. Uterine size was larger in those who eventually had postmolar GTN (t: −3.12, df: 32.64, P: 0.01). Analysis of the receiver operating characteristic curve showed that optimum cut-off levels for predicting GTN at 1, 3, and 5 weeks after evacuation were 4,152 mIU/ml (sensitivity: 50%, specificity: 94.7%, area under the curve [AUC]: 0.75), 804 mIU/ml (sensitivity: 62.5, specificity: 96.9%, AUC: 0.94), and 541 mIU/ml (70.8%, specificity: 97.7%, AUC: 0.96), respectively. @*Conclusion@#The level of hCG within the first 5 weeks after molar pregnancy evacuation is predictive of progression to GTN.

Mola invasiva. presentación de un caso / Mola invasiva. Apresentação de um caso / Invasive mole. Case presentation

Se presentó un caso de enfermedad trofoblástica tipo mola invasiva. El diagnóstico se sospechó con la ecografía del primer marcador genético, se realizaron dos legrados terapéuticos, el segundo de ellos, sugirió el diagnóstico de mola invasiva. Se realizó tratamiento quirúrgico (histerectomía total) con previa administración de quimioterapia con metotrexato sistémico. La biopsia confirmó el diagnóstico de mola invasiva. La mola invasiva es una de las formas de presentación de la enfermedad trofoblástica gestacional, es una condición infrecuente, en que la proliferación de células del trofoblasto y sincitiotrofoblasto penetran o incluso perforan la pared uterina, producen destrucción local pudiendo invadir el tejido parametrial y los vasos sanguíneos viajando dentro de estos, aunque no se han reportado verdaderas siembras metastásicas en otros órganos. La evolución clínica se realizó en consulta externa. Transcurrido dos años la evolución es satisfactoria, el tratamiento efectivo y bien tolerado por la paciente(AU).

A case of trophoblastic disease, of the invasive mole type was presented. The diagnosis was first suspected with the ultrasound of the first genetic marker. Two therapeutic curettages were performed, the second of which suggested the diagnosis of invasive mole. Surgical treatment (total hysterectomy) was performed with prior administration of chemotherapy with systemic methotrexate. The biopsy confirmed the diagnosis of invasive mole. Invasive mole is one of the forms of presentation of gestational trophoblastic disease. It is a rare condition in which the proliferation of trophoblast and syncytiotrophoblast cells penetrate or even perforate the uterine wall, produce local damage and can invade the parametrial tissue and blood vessels, traveling within these. True metastatic seeding in other organs has not been reported. The clinical evolution was carried out in an outpatient clinic. After two years the evolution is satisfactory, the treatment effective and well tolerated by the patient(AU).

Foi apresentado um caso de doença trofoblástica invasiva por mola. O diagnóstico foi suspeitado com a ultrassonografia do primeiro marcador genético, foram realizadas duas curetagens terapêuticas, sendo que a segunda sugeriu o diagnóstico de mola invasiva. O tratamento cirúrgico (histerectomia total) foi realizado com administração prévia de quimioterapia com metotrexato sistêmico. A biópsia confirmou o diagnóstico de mola invasiva. A mola invasiva é uma das formas de apresentação da doença trofoblástica gestacional, é uma condição infrequente, em que a proliferação de células trofoblásticas e sincitiotrofoblásticas penetram ou mesmo perfuram a parede uterina, produzem destruição local e podem invadir o tecido parametrial e vasos sanguíneos dos vasos. viajando dentro deles, embora verdadeira semeadura metastática em outros órgãos não tenha sido relatada. A evolução clínica foi realizada em ambulatório. Depois de dois anos, o a evolução é satisfatória, o tratamento é eficaz e bem tolerado pelo paciente(AU).

Tirotoxicosis por enfermedad trofoblástica gestacional: revisión a partir de 3 casos / Thyrotoxicosis due to gestational trophoblastic disease: clinical cases

La enfermedad trofoblástica gestacional (ETG) es una complicación del embarazo poco común. Corresponde a un espectro de lesiones proliferativas del tejido trofoblástico: Mola Hidatiforme (MH) en sus formas parcial y completa, Coriocarcinoma, Tumor Trofoblástico y Tumor Trofoblástico Epiteloide. Los distintos tipos de ETG presentan en común la hipersecreción de gonadotrofina coriónica humana (hCG). La hCG es una hormona glicoproteica con una estructura muy similar a la TSH, por lo cual puede estimular la función tiroidea en condiciones fisiológicas y en algunas condiciones patológicas. La ETG puede cursar con hipertiroidismo, el cual puede variar en intensidad, desde una presentación asintomática con alteración leve de hormonas tiroideas a un cuadro de hipertiroidismo manifiesto. Se presentan 3 casos clínicos de pacientes con ETG, específicamente MH que evolucionaron con tirotoxicosis transitoria. Los casos presentaron un cuadro leve de hipertiroidismo con pocos síntomas asociados. La taquicardia fue el único síntoma en la mayoría de los casos. En todas las pacientes las hormonas tiroideas se normalizaron después del tratamiento de la ETG. Conclusión: Se debe tener presente la posibilidad de hipertiroidismo en toda paciente con ETG. Un alto nivel de sospecha permitirá identificar a aquellas pacientes que cursen con hipertiroidismo, permitiendo así un diagnóstico y tratamiento oportuno.

Gestational trophoblastic disease (GTD) is a rare complication of pregnancy. GTD includes a group of proliferative lesions of trophoblastic tissue: partial and complete hydatidiform mole, choriocarcinoma, epithelioid trophoblastic tumor, and placental site trophoblastic tumor. The different types of GTD have in common the hypersecretion of human chorionic gonadotropin (hCG). HCG is a glycoprotein hormone with a similar structure to TSH. In physiological and pathological conditions hCG can stimulate thyroid function. GTD can present with hyperthyroidism, which can vary in intensity, from an asymptomatic presentation with mild alteration of thyroid hormones to a manifest hyperthyroidism. We present 3 clinical cases of patients with GTD thyrotoxicosis. All cases presented mild hyperthyroidism. Tachycardia was the only symptom in most cases. In all patients thyroid hormones return to normal after treatment of GTD. Conclusion: In patients with GTD the possibility of hyperthyroidism should be kept in mind. A high level of suspicion will allow to identifying patients with hyperthyroidism.

Partial molar pregnancy with live fetus complicated by intrauterine growth restriction and severe preeclampsia. Case report and review of the literature / Mola parcial con feto vivo, complicado con restricción de crecimiento intrauterino y preeclamsia severa. Reporte de caso y revisión de la literatura

RESUMEN Objetivo: reportar un caso de mola parcial con feto vivo y realizar una revisión de la literatura sobre las complicaciones maternas y fetales asociadas a esta condición. Materiales y métodos: se presenta el reporte de un caso de mola parcial y feto vivo de 33 semanas, complicado por restricción de crecimiento intrauterino, oligoamnios y preeclampsia severa. Después de seguimiento del recién nacido a un año reportamos un resultado satisfactorio materno-fetal. Se realiza una búsqueda de la literatura en Medline vía PubMed, Lilacs, OVID, Uptodate y Google Scholar, con los siguientes términos MESH: "hiditadiform mole", "partial mole", "live fetus", "coexisting live fetus". Se seleccionaron estudios de series de caso y reportes de caso de gestantes con coexistencia de mola parcial y feto vivo al momento del diagnóstico, y se extrajo información sobre el pronóstico materno-fetal. Resultados: se identificaron inicialmente 129 títulos relacionados, de los cuales 29 cumplieron los criterios de inclusión, 4 artículos fueron excluidos por no obtener acceso al texto completo. Se analizaron 31 casos reportados, 9 casos terminaron en aborto, 8 terminaron en óbito o muerte perinatal y 14 (45 %) casos terminaron con un recién nacido vivo. La complicación materna más frecuente fue preeclampsia, en 6 (19,35 %) casos. Conclusión: la coexistencia de mola parcial con feto vivo presenta un riesgo alto de resultado perinatal adverso y preeclampsia. Se requiere más información sobre esta rara condición para determinar de mejor manera posibles intervenciones en los casos de fetos euploides y dar una adecuada asesoría en la práctica clínica, por lo que es importante el reporte de estos casos para tener suficiente evidencia sobre el comportamiento natural de la enfermedad.

ABSTRACT Objective: To report the case of a partial molar pregnancy with live fetus and conduct a review of the literature regarding maternal and fetal complications associated to this condition. Materials and methods: Case report of a partial mole with a 33 weeks live fetus complicated by intrauterine growth restriction, oligohydramnios and severe preeclampsia. We report satisfactory maternal and neonatal outcomes and 1-year follow-up. A search was conducted in the Medline via Pubmed, Lilacs, Ovid, Uptodate and Google Scholar databases using the following MESH terms: hiditadiform mole, partial mole, live fetus, coexisting live fetus. Case series and case reports of pregnant women with coexisting partial mole and live fetus at the time of diagnosis were selected and information regarding maternal and fetal prognosis was extracted Results: Initially, 129 related titles were identified. Of these, 29 met the inclusion criteria, and 4 articles were excluded due to failed access to the full text. Overall, 31 reported cases were included; 9 ended in miscarriage, 8 in fetal demise or perinatal death, and 14 (45 %) resulted in a live neonate. The most frequent maternal complication was preeclampsia in 6 (19.35 %) cases. Conclusion: The coexistence of a partial mole with a live fetus poses a high risk of adverse perinatal outcomes and preeclampsia. The volume of information regarding this rare condition must be increased in order to better determine potential interventions in cases of euploid fetuses and to provide adequate counseling in clinical practice. Therefore, reporting these cases is important to build sufficient evidence about the natural course of this condition.

Fatores citogenéticos associados a danos reprodutivos em programa universitário de genética comunitária / Cytogenetic factors associated with reproductive damage in community genetics university programs

Introdução: perdas gestacionais esporádicas são comuns e estima-se que aproximadamente 30 a 50% de todas as concepções não terminem em um recém-nascido vivo. Patologia materna ou alteração genética de natureza cromossômica, em um dos progenitores, são fatores de risco favoráveis a esses acontecimentos. Outras situações que podem estar relacionadas às alterações cromossômicas são a infertilidade e a ocorrência de mola hidatiforme (neoplasia trofoblástica gestacional), caracterizada por interferência na formação e desenvolvimento do embrião. Embora haja um consenso sobre o caráter multifatorial das perdas gestacionais, incluindo componentes anatômicos, imunológicos, endócrinos, genéticos e ambientais, ainda assim, a causalidade pode permanecer desconhecida. Objetivos: analisar e quantificar achados de dificuldades reprodutivas relacionados a presença de alterações cromossômicas encontrados no serviço de genética realizado pelo programa Genética & Sociedade, do Instituto de Biologia da Universidade Federal da Bahia. Metodologia: estudo descritivo e analítico, realizado por meio de consulta a fichas de anamneses, preenchidas durante o atendimento de casais, que buscaram o serviço de genética comunitária para aconselhamento genético no período de vinte anos. Resultados: entre os 73 casais selecionados para estudo, 59 (80,8%) relataram abortos recorrentes, 9 (12,3%) tinham histórico de mola hidatiforme e 5 (6,8%) apresentaram infertilidade. Entre as alterações foram verificadas translocações, inversões, além de polimorfismos de regiões heterocromáticas. Conclusões: o presente estudo confirma a importância das alterações cromossômicas na etiologia das dificuldades reprodutivas, justificando a busca pelo aconselhamento genético. Em termos de saúde pública, traz contribuições para o entendimento das condições genéticas da comunidade beneficiada pelo programa Genética & Sociedade.

Introduction: sporadic gestational losses are common, it's estimated that approximately 30 to 50% of all conceptions don't end in a newborn alive. Maternal pathology or genetic alterations of chromosomal nature in one of the progenitors are risk factors favorable to these events. Other situations that may be related to chromosomal alterations are infertility and the occurrence of hydatidiform mole (gestational trophoblastic neoplasia), characterized by interference in the formation and development of the embryo. Although there is a consensus about the multifactorial nature of gestational losses, including anatomical, immunological, endocrine, genetic and environmental components, however, the causality may remain unknown. Objectives: analyze and quantify the findings of reproductive difficulties related to the presence of chromosomal alterations found in the genetics service performed by the Genética&Sociedade program of the Biology Institute of the Federal University of Bahia. Methodology: a descriptive and analytical study, carried out by consultation of anamnesis records, made during the care of couples, who sought the community genetic service for genetic counseling in the period of twenty years. Results: among the 73 couples selected, 59 (80.8%) reported recurrent abortions, 9 (12.3%) had a history of hydatidiform mole and 5 (6.8%) had infertility. Among all the alterations, were found translocations, inversions, and polymorphisms of heterochromatic regions. Conclusions: this study confirms the importance of chromosomal alterations in the etiology of reproductive difficulties, justifying the search for genetic counseling. In terms of public health, it contributes to the understanding of the genetic conditions in the community benefited by the Genética&Sociedade program.

Evaluation of high-dose vitamin A treatment in postmolar patients with low and plateauing serum human chorionic gonadotropin levels / Avaliação de alta dose de vitamina A em pacientes pósmola hidatiforme, com valores baixos e em platô de gonadotrofina coriônica humana

Abstract Objective To compare the effect of high-dose vitamin A (HD Vit-A) use during postmolar follow-up of patients with low and plateauing (L&P) serum human chorionic gonadotropin (hCG) levels, from the moment serum hCG plateaued (P-hCG) to the first normal serum hCG value (< 5IU/L). Methods The present retrospective series case study compared two nonconcurrent cohorts of patients. Control group (CG): 34 patients with L&P serum hCG levels who underwent expectant management for 6 months after uterine evacuation, from 1992 to 2010; study group (SG): 32 patients in similar conditions who received 200,000 IU of Vit-A daily, from the identification of a P-hCG level to the first normal hCG value or the diagnosis of progression to gestational trophoblastic neoplasia (GTN), from 2011 to 2017. The present study was approved by the Ethics Committee of the institution where it was conducted. Results In both groups, the prevalence of persistent L&P serum hCG levels was < 5%. In the SG, hCG levels at plateau were higher (CG = 85.5 versus SG = 195 IU/L; p = 0.028), the rate of postmolar GTN was lower (CG = 29.4% versus SG = 6.3%, p = 0.034) and follow-up was shorter (CG = 14 versus SG = 10 months, p < 0.001). During GTN follow-up, there were no differences in GTN staging or treatment aggressiveness in both groups. High-dose Vit-A use did not have any relevant toxic effect. There were no GTN relapses or deaths. Conclusion The limited use of HD Vit-A seems to have a safe and significant effect on the treatment of postmolar patients with L&P serum hCG levels and may decrease the development of postmolar GTN in this population.

Resumo Objetivo Comparar o efeito de alta dose de vitamina A (VitA) no seguimento pósmolar de pacientes com gonadotrofina coriônica humana (hCG) sérica apresentando valoresbaixoseem platô(L&P). Métodos Estudo retrospectivo de série de casos comparando duas coortes não simultâneas. Grupo controle (CG): 34 pacientes com títulos de hCG sérico L&P submetidos a manejo expectante por 6 meses após o esvaziamento uterino, de 1992 a 2010; Grupo de Estudo (SG): de 2011 a 2017, 32 pacientes em condições semelhantes de hCG receberam Vit-A na dose de 200.000 IU por dia, do momento da identificação dohCG em platôate o primeirohCG normaloudiagnóstico de progressão para neoplasia trofoblástica gestacional (NTG). O presente estudo foi aprovado pelo Comitê de Ética da Instituição na qual foi desenvolvido. Resultados Em ambososgrupos, aprevalência de hCGL&P foi < 5%. No SG, os níveis de hCGemplatô forammaiores (CG = 85.5 versus SG = 195 IU/L; p = 0,028), e foram significantemente menores tanto a prevalência de NTG pós-molar (CG = 29.4% versus SG = 6.3%, p = 0,034) como o tempo de seguimento (CG = 14 versus SG = 10 meses, p < 0.001). Na evolução para NTG não houve diferença no estadiamento da Interna tional Federation of Gynecology and Obstetrics (FIGO, na sigla em inglês) ou na agressividade do tratamento. Com altas doses de Vit-A não houve qualquer efeito tóxico relevante. Não houve casos de recidiva de NTG ou de óbito. Conclusão O uso limitado de altas doses de Vit-A parace ser seguro e apresenta efeitos significativos na evolução de pacientes em controle pós-molar com títulos de hCG sérico L&P, e pode diminuir o desenvolvimento de NTG pós-molar nessa população.

Caracterización clínica y epidemiológica de pacientes diagnosticadas con embarazo molar durante los años 2012-2019 en el Hospital de Chillán / Clinical and epidemiological characterization of patients diagnosed with molar pregnancy during the years 2012-2019 in Hospital de Chillán

La enfermedad trofoblástica gestacional (ETG) constituye un conjunto heterogéneo de afecciones malignas y benignas derivados de la proliferación anormal del trofoblasto o de las células germinales de ambos sexos. La ETG tiene una incidencia variable a lo largo del mundo. A nivel nacional, no se han realizado estudios de caracterización epidemiológica de esta población y, frecuentemente, los datos manejados están basados en estudios extranjeros. Objetivo: Determinar las características clínicas y epidemiológicas de las pacientes diagnosticadas con embarazo molar en el período transcurrido entre el año 2012 y 2019, en el hospital Clínico Herminda Martin de Chillán. Materiales y métodos: Estudio observacional transversal de serie temporal, se consideró el número total de fichas clínicas del Hospital Clínico Herminda Martin de Chillán durante los años 2012 al 2019, con diagnóstico confirmado de Embarazo Molar. Los datos se registraron en la hoja de recolección de datos elaborada, realizándose los análisis estadísticos pertinentes. Resultados: Se analizaron 44 pacientes, la edad promedio de presentación fue de 30.96 años. Los principales síntomas de consulta fueron metrorragia 52.27% (n=23) y dolor abdominal 20.45% (n=9). El principal tratamiento efectuado fue aspiración y legrado en un 77,27% (n=34). El 4.54% (n=2) presentó recurrencia, presentando un segundo episodio de embarazo molar. Conclusiones: El embarazo molar es una patología poco frecuente, pero es un diagnóstico diferencial a tener en cuenta, sobre todo cuando nos enfrentamos a mujeres en edad fértil que consultan por metrorragia o dolor abdominal.

Gestational trophoblastic disease (GTS) is a heterogeneous group of malignant and benign conditions derived from abnormal proliferation of the trophoblast or germ cells of both sexes. GTS has a variable incidence throughout the world. Nationally, no epidemiological characterization studies have been carried out for this population and, frequently, the data handled is based on foreign studies. Objective: To determine the clinical and epidemiological characteristics of patients diagnosed with molar pregnancy between the period between 2012 and 2019 at the Hospital Clinico Herminda Martin of Chillan. Materials and methods: Retrospective observational descriptive cross-sectional study, considering the pregnancies registered at the Hospital Clinico Herminda Martin of Chillan during the years 2012 to 2019, with a confirmed diagnosis of Molar Pregnancy, as sample of study. The data were recorded on the prepared data collection sheet, performing the relevant statistical analyzes. Results: 44 patients were analyzed, the average age of presentation was 30.96 years. The main symptoms of consultation were metrorrhagia 52.27% (n = 23) and abdominal pain 20.45% (n = 9). The main treatment was aspiration and curettage in 77.27% (n = 34). 4.54% (n = 2) presented recurrence, presenting a second episode of molar pregnancy. Conclusions: Molar pregnancy is a rare pathology, but it is a differential diagnosis to take into account, especially when we are faced with women of childbearing age who consult due to bleeding or abdominal pain.

Association between antioxidant vitamins and oxidative stress among patients with a complete hydatidiform mole

OBJECTIVES: This study aimed to evaluate the potential relationship between oxidative stress, dietary intake, and serum levels of antioxidants in patients with a complete hydatidiform mole (CHM) compared with controls. METHODS: This was an observational cross-sectional study conducted in Rio de Janeiro, Brazil. A total of 140 women were enrolled in this study and divided into four groups: 43 patients with CHM, 33 women who had had an abortion, 32 healthy pregnant women, and 32 healthy non-pregnant women. All participants underwent blood sampling, assessment using a semiquantitative food frequency questionnaire, and anthropometric measurement. Blood samples were collected after overnight fasting (10-12 h). Vitamin levels (A, C, and E) were determined by ultra-performance liquid chromatography, and gamma-glutamyl transferase levels were assessed using an automated quantitative analysis system (Dimension®, Siemens). RESULTS: Although all groups showed sufficient serum vitamin A and E levels, the participants had inadequate dietary intake of these vitamins. Conversely, all groups had an insufficient serum level of vitamin C, despite adequate intake. The gamma-glutamyl transferase values did not differ significantly among the groups. However, elevated serum levels of this enzyme were observed in several patients. CONCLUSIONS: All groups exhibited high levels of oxidative stress, as evaluated by gamma-glutamyl transferase levels, and had inadequate intake of antioxidant vitamins. Therefore, the high exposure to oxidative stress found in our study, even in healthy pregnant and non-pregnant women, may increase the incidence of CHM in this region.

Choriocarcinoma of the colon: A rare case / Philippine Journal of Obstetrics and Gynecology

@#Gestational trophoblastic neoplasia is a group of tumors which includes invasive mole, choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor, all of which develop after a recognized pregnancy. Choriocarcinoma is a highly invasive and metastatic neoplasm which arises in women of reproductive age. Local spread is reported at 15% while distant metastasis at 4%. Of the 4% of cases having distant metastasis, 60% goes to the lungs, 30% to the vagina, and 10% to other sites. Less than 5% of patients with metastatic gestational trophoblastic neoplasia have involvement of the gastrointestinal tract. This is the case of a 47-year-old multigravid patient who came in with an enlarging abdomen 8 years after she had a hydatidiform mole. Work-ups were done which revealed metastases to the colon, liver and lungs. The plan of management was to give multiple agent chemotherapy.

Complete hydatidiform mole with co-existing live fetus: A case report / Philippine Journal of Obstetrics and Gynecology

@#The co-existence of a hydatidiform mole with a living fetus during the third trimester is extremely rare. The optimal management of such a case is controversial especially when medical and obstetric complications set in before term. The aim of management is towards avoidance of complications and planning the delivery at the most appropriate time to ensure good maternal and fetal outcome. We report the case of a 27-year-old Gravida 2 Para 1, who was diagnosed with a complete mole with co-existing live fetus at around 12 weeks age of gestation. She was referred to our institution at 31 weeks and 1 day age of gestation due to vaginal bleeding for which an emergency cesarean section was done. She delivered a live baby boy weighing 1.5 kg, with Apgar Score of 4,6,6. Chemoprophylaxis was administered and her serum beta human chorionic gonadotropin was monitored post-partum.

Chemoprophylaxis in the prevention of postmolar gestational trophoblastic neoplasia: A 5-year review / Philippine Journal of Obstetrics and Gynecology

Background@#Administration of chemotherapy to prevent postmolar gestational trophoblastic neoplasia was first implemented in the 1960’s. However, its use has remained controversial.@*Objectives@#This study aimed to describe the effect of chemoprophylaxis in preventing progression of hydatidiform mole to gestational trophoblastic neoplasia among patients managed in a tertiary hospital in Davao City from 2011 to 2015.@*Materials & Method@#This retrospective cross-sectional study evaluated 123 cases of hydatidiform mole who were managed at a tertiary hospital in Davao City from the years 2011 to 2015. The patients’ charts were retrieved to get the clinicodemographic profile, progression to gestational trophoblastic neoplasia, and occurrence of adverse effects secondary to chemoprophylaxis. Patients with rising or plateauing beta human chorionic gonadotropin titer were identified within the 3-year period from molar evacuation. Collected data were analyzed using frequency and percentage distribution.@*Results@#The mean age of the patients was 30.5 years, 24% of whom were noted in women more than 40 years of age. The average age of gestation on admission was 14.89 weeks. All patients had a histopathologic diagnosis of complete mole and at least one risk factor for developing postmolar gestational trophoblastic neoplasia. Patients did not experience any significant side effect to chemoprophylaxis. None of the patients developed gestational trophoblastic neoplasia within the 3-year period of monitoring.@*Conclusion@#The administration of chemoprophylaxis to patients diagnosed with hydatidiform mole may be effective against the development of postmolar gestational trophoblastic neoplasia.

A five-year review of the clinicopathologic profile of patients with hydatidiform mole at the Philippine General Hospital / Philippine Journal of Obstetrics and Gynecology

Background@#The clinical presentation of patients with hydatidiform mole have changed in recent years due to earlier diagnosis as a result of widespread use of ultrasonography and availability of assays for human chorionic gonadotrophin.@*Objective@#To determine the clinicopathologic profile of patients diagnosed with hydatidiform mole at the Philippine General Hospital from January 2013 to August 2018.@*Methods@#This retrospective cross-sectional study included all patients with histologically confirmed diagnosis of hydatidiform mole managed at the Philippine General Hospital from January 2013 to August 2018. Medical records of patients were retrieved. All abstracted variables were analyzed retrospectively. The level of significance for all sets of analysis was set at p-value < 0.05 using two-tailed comparisons.@*Results@#From January 2013 to August 2018, a total of 435 patients diagnosed with hydatidiform mole were managed at the Philippine General Hospital with a prevalence rate of 15.7/1,000 pregnancies. Diagnosis was made in the first trimester in 52% of patients. A quarter of the patients had pre-evacuation B-hCG levels of more than 1 million mIU/mL. Vaginal bleeding was the most frequent presenting symptom but only 59% of the patients had anemia requiring blood transfusion. Majority (90.57%) had a histopathologic diagnosis of complete hydatidiform mole.@*Conclusion@#The prevalence and clinicopathologic profile of patients with hydatidiform mole in the Philippine General Hospital have remained largely unchanged.