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The Clinicopathologic profile of the partial hydatidiform mole
Abstract
Having delineated the complete and the partial hydatidiform moles as 2 separate entities on the basis or morphology and cytogenetics, the authors studied 201 molar pregnancies at the Magee-Womens Hospital in an attempt to characterize the clinicopathologic profile of the partial mole syndrome. This was done mainly by comparison and contrast with the established and more familiar syndrome of the classic complete mole. The partial mole syndrome displays most of the pathologic and clinical features of the classic mole and seems to represent a milder, dilute version of the latter. This applies to placental morphology, to the fate of the embryo/fetus, and to human chorionic gonadotropin (hCG) levels as well as to the incidence and severity of clinically persistent trophoblastic disease. Preeclampsia can be equally severe in both syndromes, but tends to occur later in patients with partial mole. No metastatic disease was encountered in association with partial moles and no case of overt choriocarcinoma has yet been described. The occurrence of trophoblastic disease (as determined by postoperative hCG titers) following partial moles requires further inquiry, including study of the pathology of the underlying lesion(s), which remain virtually unexplored.
... Molar pregnancy is part of a group of diseases classified as Gestational Trophoblastic Disease (GTD), which originate in the placenta and may locally invade the uterus and metastasize [1] . Hydatidiform Moles (HM) are traditionally categorized as complete or partial, which differ by gross morphology, histopathology, karyotype, risk of malignancy and fetal characteristics phenotype features [2,3] . Partial Moles (PM) are most commonly triploid, resulting from fertilization of an ap-parently normal ovum by two sperm or a diploid sperm and may be 69XXX, 69 XXY or 69 XYY [2,3] . ...
... Hydatidiform Moles (HM) are traditionally categorized as complete or partial, which differ by gross morphology, histopathology, karyotype, risk of malignancy and fetal characteristics phenotype features [2,3] . Partial Moles (PM) are most commonly triploid, resulting from fertilization of an ap-parently normal ovum by two sperm or a diploid sperm and may be 69XXX, 69 XXY or 69 XYY [2,3] . PM is the only type of GTD associated with the presence of a fetus and cardiac activity may be detected [4] . ...
... Partial Mole (PM) usually derives from dispermic fertilization of a haploid normal oocyte and produces a triplet set of chromosomes that leads to the presence of an embryo/fetus with multiple malformations that commonly demises in utero in the first trimester [3] . PM with coexisting live fetus is a rare complication with the incidence of 0.005 -0.01 % of all pregnancies [8][9][10] . ...
Hydatidiform mole is part of a group of diseases classified as gestational tro-phoblastic disease, which results from an aberrant fertilization. They are associated with an increase risk for the development of neoplasm, specifically choriocarcinoma, a malignant tumor that has a potential to locally invade the uterus and metastasize. Traditionally, moles have been categorized into complete or partial hydatidiform moles. Partial moles are most commonly triploid and are associated with the presence of a malformed fetus. Often partial moles are misdiagnosed as an incomplete or missed abortion of the first trimester. A case of a partial molar pregnancy with live fetus diagnosed on second trimester is reported. Hyperemesis gravidarum and hyperthyroidism were the clinical presentations. Human chorionic gonadotropin level was 1 891 264 mIU/mL. Fetal karyotype was 69, XXX. Surgical uterine evacuation was performed and the patient is in follow up. Partial molar pregnancy with a live fetus is a rare condition that presents a challenging diagnosis, particularly when it is detected during the second trimester of pregnancy.
... Las características demográficas y las frecuencias relativas de cada tipo histológico de MH en la muestra estudiada son cercanas a las reportadas en otros estudios; sin embargo, la edad gestacional fue ligeramente mayor en este trabajo 11,[14][15][16][17][18][19] . De igual manera la mediana y el rango de las concentraciones de beta-hCG previos al tratamiento fueron similares a los observados en la literatura [14][15][16][17][18][19][20] completa y 26 de MH parcial reporta un área bajo la curva de 0,797 en el análisis de curva ROC, siendo significativamente mejor que el azar para distinguir entre las dos entidades 21 . ...
... Las características demográficas y las frecuencias relativas de cada tipo histológico de MH en la muestra estudiada son cercanas a las reportadas en otros estudios; sin embargo, la edad gestacional fue ligeramente mayor en este trabajo 11,[14][15][16][17][18][19] . De igual manera la mediana y el rango de las concentraciones de beta-hCG previos al tratamiento fueron similares a los observados en la literatura [14][15][16][17][18][19][20] completa y 26 de MH parcial reporta un área bajo la curva de 0,797 en el análisis de curva ROC, siendo significativamente mejor que el azar para distinguir entre las dos entidades 21 . ...
... Respecto a los casos con MH parcial, el presente estudio halló que el 31% tuvieron concentraciones iguales o mayores a 100 000 UI/L. Un trabajo con 81 casos con diagnóstico de MH parcial revela que solo el 37% (30 casos) tuvo mediciones de beta-hCG previos al tratamiento, y solo dos casos tuvieron valores superiores a 100 000 UI/L. Adicionalmente, se anota que solo en cinco existió la impresión diagnóstica inicial de enfermedad trofoblástica, siendo en la gran mayoría aborto diferido o incompleto 18 . En otro estudio que incluía 201 mujeres con diagnóstico de MH parcial, solamente el 7% había recibido diagnóstico preoperatorio correcto 19 . ...
Introducción:
La mola hidatiforme es la forma más común de enfermedad trofoblástica gestacional. La cuantificación de beta-hCG sérica tiene importante valor en su diagnóstico y pronóstico, no obstante en Colombia no se cuenta con referencias de sus niveles según el tipo de mola o factores de riesgo.
Objetivo:
Estudiar el comportamiento de los valores de beta-hCG según el tipo de mola y los factores de riesgo.
Materiales y Métodos:
Se estudiaron 74 casos con diagnóstico de mola hidatiforme en el departamento de patología de la Universidad Industrial de Santander entre los años 2005 y 2014. Se registró a partir de los datos proporcionados por la historia clínica: hábito de fumar, hemoclasificación, indicación de régimen EMA-CO, antecedentes sociodemográficos y ginecoobstétricos y la concentración de beta-hCG previa al tratamiento evacuador.
Resultados:
63 casos presentaron mediciones válidas de beta-hCG. En el análisis se utilizaron pruebas no paramétricas con un nivel de significancia del 10%. La mediana de beta-hCG para mola completa y parcial fue 270 852 UI/L y 40 379 UI/L respectivamente. Hubo una diferencia significativa para los valores de beta-hCG entre grupos de mola (p<0,0001). Para el diagnóstico de mola completa un punto de corte de 170 000 U/L presentó una sensibilidad del 91,5% y una especificidad del 75%. La indicación de EMA-CO presentó una asociación significativa con los valores de beta-hCG (p=0,066); no alcanzaron significancia las asociaciones con el tabaquismo (p=0,118) y la multiparidad (p=0,111).
Conclusión:
La cuantificación de beta-hCG ayuda a clasificar el tipo de mola aunque su rendimiento diagnóstico es modesto. MÉD.UIS. 2018;31(1):39-46.
... Molar pregnancy is part of a group of diseases classified as Gestational Trophoblastic Disease (GTD), which originate in the placenta and may locally invade the uterus and metastasize [1] . Hydatidiform Moles (HM) are traditionally categorized as complete or partial, which differ by gross morphology, histopathology, karyotype, risk of malignancy and fetal characteristics phenotype features [2,3] . Partial Moles (PM) are most commonly triploid, resulting from fertilization of an ap-parently normal ovum by two sperm or a diploid sperm and may be 69XXX, 69 XXY or 69 XYY [2,3] . ...
... Hydatidiform Moles (HM) are traditionally categorized as complete or partial, which differ by gross morphology, histopathology, karyotype, risk of malignancy and fetal characteristics phenotype features [2,3] . Partial Moles (PM) are most commonly triploid, resulting from fertilization of an ap-parently normal ovum by two sperm or a diploid sperm and may be 69XXX, 69 XXY or 69 XYY [2,3] . PM is the only type of GTD associated with the presence of a fetus and cardiac activity may be detected [4] . ...
... Partial Mole (PM) usually derives from dispermic fertilization of a haploid normal oocyte and produces a triplet set of chromosomes that leads to the presence of an embryo/fetus with multiple malformations that commonly demises in utero in the first trimester [3] . PM with coexisting live fetus is a rare complication with the incidence of 0.005 -0.01 % of all pregnancies [8][9][10] . ...
... The incidence varies according to regional, ethnic, socioeconomic and age differences. Molar pregnancy may be classified as either complete or partial, based on gross morphology, histopathology and karyotype (2). Surgical uterine evacuation in the form of suction curettage is considered the management of choice in newly diagnosed GTD. ...
... Surgical uterine evacuation in the form of suction curettage is considered the management of choice in newly diagnosed GTD. Persistent trophoblastic disease (PTD) is seen in only 4-9% of cases after evacuation of a partial mole (2,3). In cases of complete molar pregnancy, the risk of PTD is thought to be 15-20% (4). ...
Objective
Human chorionic gonadotropin (hCG) is widely used in the management of hydatidiform mole and persistent trophoblastic disease (PTD). Studies on hyperglycosylated human chorionic gonadotropin (invasive trophoblast antigen, ITA) in PTD are limited. In serum samples taken before evacuation of molar pregnancies we measured the concentrations of free hCG β-subunit (free hCGβ), “total” hCG (hCG+hCGβ) and ITA, and determined whether ITA, the two other hCG analytes, or the calculated ratios of hCGβ/hCG+hCGβ, hCGβ/ITA and hCG+hCGβ/ITA could predict the later development of PTD.
Design
A retrospective study based on blood specimens collected in the Dutch Central Registry for Hydatidiform Moles. The study group comprised 97 patients with hydatidiform moles who did not develop PTD after mole evacuation and 33 patients who did develop PTD.
Methods
Serum samples from 130 patients with hydatidiform mole with or without PTD were assayed using specific (radio)immunoassays for free hCGβ, total hCG, and ITA. From these analytes we also calculated the ratios hCGβ/hCG+hCGβ, hCGβ/ITA, and hCG+hCGβ/ITA. To predict the development of PTD from these analytes and parameters we performed receiver-operating characteristic (ROC) curve analysis, resulting in areas under the curve (AUCs) that represented the diagnostic accuracy which was rated in a range from excellent (AUC >0.9 or <0.1) to poor (AUC 0.4–0.6).
Results
The diagnostic accuracy of ITA was moderate (0.618) and not different from that of free hCGβ (0.610) and hCG+hCGβ (0.622).
Conclusions
ITA as well as the other analytes and parameters in serum taken prior to evacuation from patients with molar pregnancies cannot be used to predict the subsequent development of persistent trophoblastic disease.
... Hydatidiform mole (HM) is a premalignant form of gestational trophoblastic disease that occurs from improper fetal and placental development [1,2]. There are two types of HM: complete or partial, and these differentiate based on clinical presentation, chromosomal pattern, histology, and outcome [2,3]. ...
... Hydatidiform mole (HM) is a premalignant form of gestational trophoblastic disease that occurs from improper fetal and placental development [1,2]. There are two types of HM: complete or partial, and these differentiate based on clinical presentation, chromosomal pattern, histology, and outcome [2,3]. Partial HM, as with our case, occurs when the ovum is fertilized by either two sperm or one diploid sperm causing a triploid mole (69XXX, 69XXY, or 69XYY) [1,3]. ...
Background . Discussion of the incidence of molar pregnancy and ectopic pregnancy. Role of salpingostomy and special considerations for postoperative care. Case . The patient is a 29-year-old G7P4 who presented with vaginal bleeding in the first trimester and was initially thought to have a spontaneous abortion. Ultrasound was performed due to ongoing symptoms and an adnexal mass was noted. She underwent uncomplicated salpingostomy and was later found to have a partial molar ectopic pregnancy. Conclusion . This case illustrates the rare occurrence of a molar ectopic pregnancy. There was no indication of molar pregnancy preoperatively and this case highlights the importance of submitting and reviewing pathological specimens.
... B) Hydropicus, megnagyobbodott bolyhok fjordszerű kontúrokkal, kisebb bolyhokkal keveredve a placenta beágyazódási helyének megfelelően. C) Hydropicus, megnagyobbodott bolyhok szabálytalan körvonalakkal és ciszternákkal, kisebb bolyhok mérsékelt trophoblast-hyperplasiával kópos megjelenésüket, mind klinikai képüket és kimenetelüket illetően eltérő [7][8][9]. A differenciáldiagnózis elengedhetetlen része az ultrahangvizsgálat és a szérum-hCG-laborkontroll. ...
A molaterhesség a terhességi trophoblastbetegségek közé sorolt, rendkívül ritka kórkép. A kórkép patogenezise egyedülálló, hiszen az anyai daganat eredete maga a terhességi szövet. Előfordulását tekintve főleg a reproduktív korú nőket érinti. Esetbemutatásunkban egy 53 éves nőbeteg postmenopausalis vérzési rendellenességet okozó panaszainak hátterében igazolódott molaterhesség. A molaterhesség fokozott kockázattal járó veszélyállapot, mely esetén a mihamarabbi befejezés alapját a megfelelő diagnosztika adja. Kezdeti tünetei megtévesztőek lehetnek, ectopiás terhességet vagy inkomplett abortuszt, anovulációs vérzési rendellenességet utánozhatnak. Esetismertetésünk célja, hogy felhívja a figyelmet a molaterhesség atipikus megjelenésére; postmenopausalis nőbetegünk kapcsán áttekintjük a molaterhesség kezelésének alapelveit, és bemutatjuk egy sikeresen kezelt eset diagnosztikus és terápiás lépéseit. Orv Hetil. 2023; 164(7): 273–277.
... For complete mole and normal fetus. 3,4 Incomplete mole is diagnosed based on ultrasound findings, a partial mole is diagnosed as a missed or incomplete abortion in 15 to 60 percent of cases. These misdiagnoses are more common in partial mole because they are accompanied by a fetus and amniotic fluid. ...
A clinical case of a 24-year-old female is presented, which by first-trimester obstetric ultrasound data suggestive of an incomplete mole is detected, first-trimester screening is performed, reporting a fetus without structural alterations, pregnancy interruption is offered, the same as the patient refuses, pregnancy is continued until the end of 37 weeks of gestation; where a fetus is obtained phenotypically without structural malformations.
... Hydatidiform mole (HM) is a non-malignant form of GTD, which can be represented as a partial mole (PM) or complete mole (CM). PM and CM differ in chromosomal pattern, microscopic and gross histopathology, clinical representation and outcomes [2][3][4]. PM occurs in approximately 1 in 700 pregnancies; CM occurs in 1 in 2000 [5]. ...
... Placenta 112 (2021)[54][55][56][57][58][59][60][61] ...
Molar pregnancy is a gestational trophoblastic disease characterized by an abnormal growth of placental tissues because of a nonviable pregnancy. The understanding of the pathophysiology and management of molar pregnancy has significantly increased in the recent years. This study aims to determine the characteristics and trends of published articles in the field of molar pregnancy through a bibliometric analysis. Using the Scopus database, we identified all original research articles on molar pregnancy from 1970 to 2020. Bibliographic and citation information were obtained, and visualization of collaboration networks of countries and keywords related to molar pregnancy was conducted using VOSviewer software. We obtained a total of 2009 relevant papers published between 1970 and 2020 from 80 different countries. The number of publications continued to increase through the years. However, the number of publications in molar pregnancy is still low compared to the other research fields in obstetrics and gynecology. The USA (n = 421, 32.1%), Japan (n = 199, 15.2%), and the UK (n = 191, 14.6%) contributed the greatest number of publications in this field. The top journals which contributed to the field of molar pregnancy include AJOG (n = 91), Obstetrics and Gynecology (n = 81), and the Gynecologic Oncology (n = 57). The most cited articles in molar pregnancy include papers on the genetics and chromosomal abnormalities in molar pregnancies. The focus of current research in this field was on elucidating the molecular mechanism of hydatidiform moles. Our bibliometric analysis showed the global research landscape, trends and development, scientific impact, and collaboration among researchers in the field of molar pregnancy.
... Partial mole usually derives from dispermic fertilization of a haploid normal oocyte that forms a triploid karyotype (69XXX, 69XXY,69XYY) leads to the presence of an embryo with multiple malformations that mostly demises in utero during the first trimester. 1 Of all pregnancies, the incidence of 0.005 -0.01% constitutes by partial molar with coexisting live which termed as sad fetus syndrome. ...
We are reporting a rare case of partial molar pregnancy coexisting with live fetus termed as sad fetus syndrome. Our case was a 20 years old primi with 18 weeks of gestational age showing partial molar pregnancy coexisting with anomalous fetus with low lying placenta presented with complaints of abdominal pain and per vaginal bleeding. Initially we tried to conserve the pregnancy but she continued on per vaginal bleeding. On the basis of maternal health and fetal prognosis, we decided to terminate the pregnancy with their consent. All the preoperative evaluations were done along with physician and anesthesiologist fitness and she had underwent operative procedure such as hysterotomy. Her post operative course in the hospital was uneventful. We had done post op abdomen with pelvis ultrasound sonography and chest X ray reported as normal. Later she was discharged with contraceptive and advised for monthly regular follow up with beta-human chorionic gonadotropin levels (β-hCG).
... Hydatidiform mole (HM) is a non-malignant form of gestational trophoblastic disease (GTD) characterized by failure of normal fetal development and over-proliferation of the trophoblasts, which can present as a partial or complete mole; these depend on the chromosomal pattern, microscopic and gross histopathology, clinical presentation, and outcomes. However, it is considered a premalignant disease due to its ability to develop into a cancer with local invasion and distant metastases [1][2][3][4]. ...
Objective
To confirm an increase in the number of women with molar pregnancy during the COVID-19 pandemic.
Methods
In this retrospective cohort study, all patients with complete or partial mole diagnosed at our institution between January 1, 2010 and October 31, 2020, were included. To verify whether there was an increase in the incidence of hydatidiform mole (HM) and deliveries in 2020, the incidences for each year from January 2010 to October 2020 were recorded. In addition, we identified all women who were diagnosed with HM from January to November 2020, and compared them with a control group who underwent uterine evacuation for missed abortion of a singleton pregnancy during the same period. We also documented the time taken to diagnose missed abortion or molar pregnancy to check if a delay in diagnosis can explain the increase in HM incidence.
Results
Between 2016 and 2019, there was a statistically significant increase in the incidence of molar pregnancy. A further increase occurred in 2020 (odds ratio = 2.071). The mean gestational age of the embryo at the time of diagnosis was smaller in the HM group than in the missed abortion group (6.3 ± 1.67–7.4 ± 2.4, one-sided P = 0.034), meaning that it took more time (days) to diagnose molar pregnancy than missed abortion (22.38 ± 10.32 vs. 15.83 ± 7.83 days, P = 0.012).
Conclusion
There was a significant increase in the incidence of molar pregnancy during the COVID-19 pandemic, possibly because of the delay in receiving medical care. We recommend providing gynecological primary care services during a crisis, such as a pandemic.
... hCG levels of CHMs are usually over 100,000 mIU/mL and fetal heart sounds do not exist (6)(7)(8)(9). hCG levels are over 100,000 mIU/mL in less than 10% of PHMs (10)(11)(12). ...
Aim: Immigration may affect the incidence of hydatidiform mole (HM). In this study, we aimed to compare Syrian immigrant and Turkish pregnant women in terms of HM due to abortion and termination of pregnancy.
Methods: An analysis of 907 endometrial curettage materials due to abortion or termination of pregnancy between the years 2016-2018 was performed. These curettage materials were examined with routine histopathologic methods. Examination of the curettage materials was repeated by a pathologist to confirm the diagnosis.
Results: HM was diagnosed in 56 of 768 Turkish pregnant women (7.30%) and it was diagnosed in 22 of 139 Syrian immigrant pregnant women (15.80%). HM incidence in Syrian immigrant pregnant women was significantly higher (2.06 times) than Turkish women (p=
0.001). The rate of Syrian pregnant women in the group with age younger than 20 was significantly higher than Turkish pregnant women (p<0.001). The rate of Turkish pregnant women was high in the group with age 30-34 and older.
Conclusions: The incidence of HM is higher in Syrian pregnant women. The main causes affecting incidence of HM in Syrian immigrants are nationality and age. Migration, with all its components, may explain the difference in HM incidence between these two neighboring
communities.
... Hyperemesis, hyperthyroidism, preeclampsia and theca luteal cysts are usually associated with markedly elevated hCG value. More than 90% of patients with partial moles have symptoms of incomplete or missed abortion; the diagnosis is usually made after histological review of curettage specimens (2). Serial quantitative serum β-hCG assays are helpful in diagnosis and follow of molar pregnancy. ...
Introduction: Gestational trophoblastic diseases (GTD) refers to a spectrum of pregnancy related trophoblastic abnormalities. The objective of this study was to determine the incidence of molar pregnancies in SCB Medical College & Hospital along with the demographics and risk factors associated and to evaluate its management and outcome. Methods: The study was a prospective epidemiological study which includes fifty eight patients with gestational trophobastic diseases treated at the gynecological ward, S.C.B. Medical College & Hospital, Cuttack, Odisha during July 2015 to July 2017. Results: The incidence was 2.85 in 1000 deliveries in the institution. Most of the patients belonged to low socioeconomic status and in the age group of 21 to 30 years. Primigravida were more prone to the disease and no patients had history of molar in prior pregnancies. Most commonly encountered symptom was vaginal bleeding following a period of amenorrhea. Second trimester was the most common time of presentation with mean gestational age around 12 weeks. Out of 57 patients treated with suction and evacuation, 23 patients developed persistent trophoblastic disease who were further managed by methotrexate and folinic acid. Failure rate of single agent chemotherapy was 21.7% which were successfully managed by triple agent chemotherapy [EMA-CO regimen]. Conclusion: Incidence of molar pregnancies in this study was much higher as this hospital is the referral centre for South Eastern Odisha. However, proper reporting and follow up can prevent mortality associated with malignant transformation. Keywords: Beta hCG, Chemotherapy, Gestational trophoblastic disease, Hydatidiform mole, molar pregnancy
... The occurrence of a hydatidiform mole within ectopic gestational tissue is rare. 1 There are two types of Hydatidiform mole: complete or partial, and these differentiate based on clinical presentation, chromosomal pattern, histology, and outcome. 2,3 Partial Hydatidiform mole, as with our cases, occur when the ovum is fertilized by either two sperm or one diploid sperm causing a triploid mole (69XXX, 69XXY, or 69XYY). 3,4 Partial Hydatidiform moles may be associated with a fetus, even allowing for a detection of fetal cardiac activity in some cases. ...
Two patients of 30-35 years of age presented in Gynecological emergency of Agartala Government Medical College at unstable condition with the diagnosis of ruptured ectopic pregnancy. Both the cases were taken for emergency laparotomy after initial resuscitation, investigations & arrangement of blood products. In both the cases rupture were found in right side and hence right sided salpingectomy done in both the cases. Both the tubes (affected) after laparotomy were sent for histopathological examination where both the reports came to be partial mole. Ectopic hydatiform mole (either complete or partial) are rare events, among these Ectopic partial moles are rarer. Both the cases were in regular follow up & ß-HCG levels came to the base level within 6-7 wks. The 1st case became pregnant after 9 months of laparotomy.
... Частичный ПЗ значительно отличается от полного. У большинства пациенток наблюдаются признаки замершей беременности или неполного аборта, и диагноз устанавливается только на основании исследования тканей [7]. ...
The article presents current data on diagnosis and treatment of patients with gestational trophoblastic disease, risk factors and their role in pathology development are also analyzed.
... 4 Ongoing CHM pregnancy frequently results in severe complications due to high hCG levels and defective placentation, even in the presence of a healthy coexisting twin. 19 ...
An uncommon presentation of molar pregnancy is a twin gestation with a normally developed fetus alongside a complete hydatidiform mole. Since the pregnancy of the normally developed fetus can progress to a viable term, continuation of a complete hydatidiform mole (CHM) can be allowed, whereby severe maternal molar-associated complications could develop. In this article we describe the pathophysiology and potential severe maternal mole-related morbidity associated with an ongoing molar pregnancy. Understanding the possibility of reaching a viable term of the healthy co-twin, and being aware of the risks of continuing a CHM pregnancy, is an essential part of informed and shared decision-making.
... El embarazo molar forma parte de las enfermedades trofoblásticas gestacionales (coexistencia de un nódulo en el sitio de la placenta, mola hidatiforme completa o incompleta, y sitio placentario aumentado). [1][2][3][4][5][6][7][8][9] La mola hidatiforme se caracteriza por alteraciones en las vellosidades coriónicas que se manifiestan por proliferación anormal del trofoblasto y edema velloso. Se clasifica en mola hidatiforme completa o incompleta y su incidencia es de 3 por cada 1000 embarazos y de 1-3 por cada 1000 embarazos, respectivamente. ...
ANTECEDENTES:
la mola parcial o incompleta representa 30% de las enfermedades trofoblásticas gestacionales; sin embargo, la incidencia de mola parcial con feto vivo es una manifestación poco frecuente, que ocurre en 1 de cada 100,000 embarazos.
CASO CLÍNICO:
paciente de 27 años de edad, con antecedentes ginecoobstétricos de 3 embarazos y 2 partos, sin comorbilidades ni alteraciones de importancia para el padecimiento actual; embarazo de 30.1 semanas según la fecha de la última menstruación y diagnóstico de enfermedad trofoblástica gestacional (mola parcial), placenta previa y útero arcuato. El ultrasonido evidenció vesículas hidrópicas, compatibles con enfermedad trofoblástica gestacional (mola parcial), por lo que se realizó amniocentesis a las 16.3 semanas del embarazo, sin incidentes ni complicaciones. Se encontró el cariotipo 46,XX. Se decidió la interrupción del embarazo por cesárea de urgencia. Puesto que se trataba de un embarazo con alta morbilidad y mortalidad, y la paciente tenía paridad satisfecha, se decidió realizar cesárea-histerectomía con la técnica de Esperanza-Bautista. Nació una niña de 1416 g, Capurro de 3 semanas y Apgar 7/9. El reporte de patología fue: proliferación anormal del trofoblasto, vesículas y vellosidades hidrópicas. La paciente continuó en seguimiento semanal sin complicaciones aparentes.
CONCLUSIONES:
el embarazo molar con feto vivo es una alteración poco frecuente. El diagnóstico temprano, seguimiento prenatal estrecho y tratamiento multidisciplinario representan factores importantes para la viabilidad del recién nacido.
... Serum beta hCG levels are often above 100,000 mIU/mL in complete molar pregnancies and fetal heart tones are absent [3][4][5][6]. Serum beta hCG levels are above 100,000 mIU/mL in less than 10% of patients with partial moles [7][8][9]. ...
... Las placentas con mola parcial por lo general presentan la mayoría de las características patológicas y clínicas de la mola completa pero en forma atenuada (4,13). La distinción se basa en el examen histopatológico y en casos difíciles se emplea la citogenética, citometría de flujo, o inmunohistoquímica (11). ...
Background: Hydatidiform moles (HM) are characterized by hydropic degeneration of chorionic villi, hyperplasia of the trophoblast and is classified in complete (CM) and partial (PM), and they are different in their karyotype, histopathology, clinical and risk of malignancy. It constitutes 1% of abortion in under 17 weeks. The purpose of this communication is to present a case of PM with 25-week fetus, which fetal autopsy in 2014. Clinical case: Primigravid of 21 years old, with a pregnancy of 25 weeks diagnosed with preeclampsia and stillbirth of 615 g, autopsy demonstrating multiple malformations with agenesis of corpus callosum, hydrocephalus, hypoplasia of the cerebellum, myeloschisis in the sacral region, micropenis, hypospadias and intrauterine growth retardation, the placenta (750 g) has findings of gestational trophoblastic disease type PM. Discussion: The PM has villous tissue with trophoblastic proliferation and fetus tends to die at an early gestational age. The fetus has congenital abnormalities because the aneuploidy, diagnoses is based on histopathology of the placenta, in difficult cases cytogenetic or flow cytometry is used. In this case, placental characteristics (hydropic villus, trophoblastic proliferation and "pseudoinclusions") and related fetal malformations were found. Conclusion: The histopathological study of the placenta and the fetus allow a definitive diagnosis to determine the monitoring of the patient and thus reduce complications.
... The four most common gynaecologic symptoms of molar pregnancy are vaginal bleeding (69%-89%), uterus larger than expected for gestational age (with complete hydatidiform mole) (28%-33%), hyperemesis (8 %-22 %) and preeclampsia or hypertension (1 %-3%) (3,11,12,13,14,15). Generally, the symptoms with partial hydatidiform mole are less pronounced than those with complete hydatidiform mole (11,15,16). Complete hydatidiform mole debuts symptomatically about 3 weeks before partial hydatidiform mole. ...
Hydatidiform mole is treated with surgical uterine evacuation with suction and blunt curettage (D). Medical uterine evacuation should not be used (C). On clinical suspicion of hydatidiform mole, one representative sample of the evacuated tissue is fixed for histopathologic investigation and one is forwarded unfixed for genetic analysis (D). Serum hCG is measured on suspicion of hydatidiform mole. At the time of the uterine evacuation, the initial hCG is measured (A). After a hydatidiform mole that is both triploid and partial, serum hCG is measured weekly until there are two consecutive undetectable values (< 1 or < 2), after which the patient can be discharged from follow-up (C). After a diploid hydatidiform mole, a complete mole, or a hydatidiform mole without valid ploidy determination, serum hCG is measured weekly until the value is undetectable (< 1 or < 2). If serum hCG is undetectable within 56 days after evacuation, the patient can be discharged from follow-up after an additional four monthly measurements. If serum hCG is first normalised after 56 days, the patient is follow-up with monthly serum hCG measurement for six months. Safe contraception should be used during the follow-up period (A). If hCG stagnates (less than 10% fall over three measurements), increases, or if hCG can be demonstrated for longer than 6 months, the patient by definition has persistent trophoblastic disease (PTD). A chest X-ray should be taken and a gynaecologic ultrasound scanning performed. The patient is referred to oncologic treatment (A). Uterine re-evacuation as a treatment for PTD can, in general, not be recommended because the rate of remission is low, and there is the risk of perforation of the uterus (C). In all following pregnancies, the woman is offered an early ultrasound scan, e.g. in gestational week eight (D). Eight weeks after termination of all future pregnancies, serum hCG is measured (D). In PTD and invasive hydatidiform mole, the primary treatment is MTX, either orally every third week or IV every week (B). In MTX-resistant PTD, IV act D is added (or replaces the MTX) (B). Third line chemotherapy is BEP or EP, alternatively EMA-CO (B). Choriocarcinoma is primarily treated with chemotherapy. Hysterectomy and/or resection of metastases are possible treatments (A). Placental site trophoblastic tumour (PSTT) and epithelioid trophoblastic tumour (ETT) are primarily treated with hysterectomy. In the case of disseminated disease, chemotherapy is considered (A). The risk of reoccurrence after trophoblastic disease treated with chemotherapy is approximately 3%. Most reoccurrences are seen within 12 months, and for this reason monitoring of hCG is recommended for one year, the first third months once or twice a month, thereafter every second to third month. Patients with PSTT and ETT are monitored with measurement of hCG throughout their lifetimes (C). In genetically verified twin pregnancy with hydatidiform mole and a living foetus, the pregnancy can continue if serum hCG is monitored and ultrasound scans regularly performed, and possible obstetric complications dealt with (C). In the case of recurrent hydatidiform mole and/or familial hydatidiform mole, patients should be referred to genetic workup and counselling (C). Women with a hereditary disposition to hydatidiform mole because of a mutation in NLRP7 should be informed of the possibility of becoming pregnant via egg donation
ABSTRACTINTRODUCTION: Gestational trophoblastic diseases (GTD) are a heterogeneous group of gestational and neoplastic conditions arising from the trophoblast. It is uncommon for gestational trophoblastic disease to present with Preeclampsia and syndrome prior to 24 weeks gestation. CASE PRESENTATION We present an unusual case of partial molar pregnancy which was diagnosed with severe preeclampsia and Partial HELLP associated with Severe anemia, Sepsis, Hyperthyroidism, Thrombocytopenia & CHF at 03 months of amenorrhea with ultrasound and Histopathology confirmed an incomplete molar pregnancy. Evacuation of the Uterus resulted in rapid resolution of signs, symptoms, and laboratory abnormalities. CONCLUSION This case demonstrates the acuteness in which life-threatening maternal conditions can arise with this uncommon complication of pregnancy, and the importance of early & correct identification of the characteristic laboratory & ultrasonographic findings associated with a molar pregnancy.kEY WORDS: Molar pregnancy, Preeclampsia, HELLP syndrome (Ethiopian Journal of Reproductive Health; 2019; 11;1:71-77)
Major research studies on the current predictors of gestational trophoblastic disease (GTD) were not conducted in Russia. The prognostic value of new prognostic factors such as the level of beta - hCG in spinal fluid in patients with disseminated tumor, the level of placental lactogen (PL) in patients with GTD have not been studied. Until now, there is no earlier criterion of tumor resistance to conventional chemotherapy (parameters beta - HCG, tumor size, etc.). As a result, clinicians often plan GTD treatment of patients according to clinical stage, apply non-standard chemotherapy regimens, which contributes to the development of tumor resistance and significantly worsens the prognosis of the disease. Thus, timely diagnosis and proper staging of GTD, it is important to optimize treatment planning. Proper treatment at an early stage can cure the vast majority of patients, using high-efficiency and low-toxicity standard first line chemotherapy regimens without harm to the reproductive health of women and reduce their quality of life. Comprehensive study of predictors of GTD will allow better planning of treatment, identify early factors tumor resistance to conventional chemotherapy and to develop evidence-based recommendations for optimizing the treatment of patients with GTD.
Updated in light of recent research findings on fertilization, implantation and early pregnancy, this new edition combines the expertise of a wide range of internationally renowned authors to produce an authoritative, multidisciplinary approach to the management of first-trimester complications. Several international guidelines and consensus statements have been released since publication of the first edition and this has stimulated new focussed research questions that are addressed. The book's key recommendations provide clinicians with the tools to improve the patient's experience of the management of first-trimester complications. By combining essential elements of scientific research and clinical care, Early Pregnancy continues to set a benchmark for evidence-based management and will be essential reading for obstetricians, gynaecologists, neonatologists, ultrasonographers, and nurses seeking an understanding of the reproductive science of early pregnancy.
Objective
Molar pregnancy is the most common type of gestational trophoblastic disease. Several recent reports have described changes in the clinical representation, the incidence and the diagnostic sensitivity of molar pregnancy. These changes could be due to widespread use of transvaginal ultrasound and beta-hCG testing in the management of routine first-trimester investigations.
Study Design: This is a retrospective study of 144 women diagnosed with partial or complete mole at a regional medical center during 2007-2020. Incidence, demographics, clinical features and diagnostic sensitivity were compared between 2007-2014 and 2015-2020, and attempts were made to understand the bases of the changes between the time periods.
Results
Sixty-two moles were diagnosed during 2007-2014 and 82 during 2015-2020. The proportions of complete moles in the respective periods were 65% (40) and 18% (15). From the earlier to the later period, the incidence and proportion of complete moles decreased, and of partial moles, increased. The median gestational age at diagnosis of molar pregnancy was 9.3 weeks. In the later period, women presented less frequently with vaginal bleeding, though this remained the most common presenting symptom. The proportion of women who underwent surgical evacuation of the uterus due to suspected molar pregnancy decreased, as did the proportion of moles that was suspected in ultrasound evaluation (P<0.001).
Conclusion
The proportion of complete moles decreased between the periods examined. Gestational age at diagnosis was similar to data from 1994-2013. Some typical presenting symptoms of molar pregnancy decreased. However, earlier diagnosis of missed abortion can miss diagnoses of molar pregnancy.
Gestational trophoblastic disease encompasses a range of tumors with abnormal cellular proliferations arising from the placental villous trophoblast. The clinicopathologic spectrum includes hydatidiform mole, invasive mole, placental site trophoblastic tumor, and choriocarcinoma. Although gestational trophoblastic neoplasias were historically associated with significant morbidity and mortality, the cure rates are now as high as 90% with modern therapies, even in the presence of metastatic disease. However, mortality from gestational trophoblastic disease is still relatively high in sub-Saharan Africa because of the challenges of the health systems in this region. This chapter discusses the epidemiologic, genetic, and histopathologic features of gestational trophoblastic disease, diagnostic evaluation, and clinical management. The establishment of dedicated regional referral centers is proposed as a strategy to improve the care and outcome of patients with gestational trophoblastic disease in the sub-Saharan region.
The World Health Organization (WHO) classification of gestational trophoblastic disease (GTD) includes disorders of placental development (hydatidiform mole) and neoplasms of the trophoblast (choriocarcinoma, placental site trophoblastic tumor [PSTT], and epithelioid trophoblastic tumor [ETT]). Nonneoplastic lesions include the exaggerated placental site and placental site nodules and plaques. A common feature of all trophoblastic lesions is that they produce human chorionic gonadotropin (hCG), which serves as a clinical marker for the presence of persistent or progressive trophoblastic disease. Because these lesions, especially postmolar trophoblastic disease, are often treated in the absence of a histologic diagnosis, they may be clinically classified as GTD without designation of the morphologic subtype. Nonetheless, identification and separation of the different pathologic forms of the disease are important, as they have different clinical presentations and behavior.
Molar pregnancy, also known as hydatidiform mole, is a rare entity that typically presents in the first trimester of pregnancy, resulting from abnormal proliferation of placental trophoblastic tissue. Molar pregnancy can present a diagnostic challenge to both the obstetrician-gynecologist and the pathologist. The medical and surgical management of molar pregnancy can be quite complicated and should be managed by someone experienced with this disease with access to adequate support from other services. After a diagnosis of molar pregnancy, strict adherence to recommended follow-up is imperative in order to identify patients who develop malignant postmolar gestational trophoblastic neoplasia (GTN). This chapter aims to arm the practicing obstetrician-gynecologist with the resources to understand this rare disease, successfully treat women with molar pregnancy, and identify those at risk for or diagnosed with postmolar gestational trophoblastic neoplasia who will require referral to a gynecologic oncologist or trophoblastic center for appropriate treatment and follow-up.
Gestational trophoblastic disease (GTD) encompasses a heterogeneous group of lesions with specific clinical features, morphological characteristics, and pathogenesis. The World Health Organization classification of GTD includes complete and partial hydatidiform mole, invasive mole, choriocarcinoma, placental site trophoblastic tumor (PSTT), epithelioid trophoblastic tumor, exaggerated placental site, and placental site nodule (Table 1). Some of these lesions are true neoplasms, whereas others represent abnormally formed placentas with a predisposition for neoplastic transformation of the trophoblast. Two benign entities, the exaggerated placental site and the placental site nodule, are included because they are trophoblastic lesions that must be distinguished from other entities with malignant potential. The literature on GTD is extensive and at times confusing because of inconsistencies in classification and terminology. In fact, the necessity of a morphologic classification has been questioned, because current management is largely medical and in the case of trophoblastic disease following a mole, treatment is often conducted in the absence of a histological diagnosis. Thus, all trophoblastic lesions are frequently combined under the rubric of GTD without applying specific pathological terms. However, studies have demonstrated profound differences in the etiology, morphology, and clinical behavior of various forms of the disease. These studies underscore the importance of a uniform histological classification to facilitate standardized reporting of data and to ensure appropriate clinical management. Nonetheless, the term “GTD” has clinical utility, as the principles of human chorionic gonadotropin (hCG) monitoring in follow-up and the chemotherapy of metastatic or persistent disease are similar for all these entities.
Alhamdulillah kita panjatkan puji syukur ke hadirat Allah SWT atas selesainya penyusunan buku panduan obstetri ginekologi untuk anggota POGI Surabaya. Semoga buku panduan ini dapat menjadi tuntunan dalam membuat keputusan klinis sehari hari. Buku panduan ini bukan merupakan protokol tetap yang bersifat mengikat. Keputusan klinis tetap harus dibuat berdasarkan situasi dan kondisi di masing masing sarana kesehatan.
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Tak lupa juga kami sampaikan terima kasih kepada seluruh anggota POGI Surabaya atas kekompakan dan kerjasamanya selama ini. Bravo POGI Surabaya
Surabaya, 7 November 2016
Dr. Brahmana Askandar, dr., SpOG (K)
Ketua POGI cabang Surabaya
p>Gestational Trophoblastic diseases consist of a broadspectrum of conditions ranging from an uncomplicated partial hydatidiform molar pregnancy to stage -IV choriocarcinoma with cerebral metastasis. Incidence of hydatidiform mole with a co-existing live fetus varies between 0.005 to 0.01 % of all pregnancies. We report a case of partial molar pregnancy with alive term IUGR (intrauterine growth retardation) foetus. Diagnosis was made by sonographic findings of molar changes at her 28 weeks of gestation. Anomaly scan showed no fetal abnormality. At 40 weeks of pregnancy patient went to spontaneous labour and delivered a severely IUGR baby weighing 1.5 kg and it was morphologically normal. There was a single placenta; one third of it was replaced by molar tissue. As the singletone alive pregnancy with partial molar changes is extremely rare occurrence we reported the case here.
J Bangladesh Coll Phys Surg 2016; 34(3): 164-167</p
This article reviews a rare case of partial placental molar pregnancy resulting in a healthy newborn. A woman was admitted to the Department of Obstetric Gynecology at Dubai Hospital in the United Arab Emirates (UAE) where she subsequently gave birth to a healthy baby. In this multiparous patient, recurrent partial molar pregnancy was identified at 13 weeks by ultrasonography, which showed focal placental changes. However, the patient refused medical intervention and was kept under observation until 36 weeks, when a baby girl with a normal karyotype was born by normal vaginal delivery. There were no maternal complications. Partial molar pregnancy resulting in a live and healthy baby is rare and usually associated with numerous maternal complications, which were not present in this case. Complete evaluation of the placental tissue is important in cases where a live and healthy baby is delivered because molar changes may be focal and, therefore, cause unpredicted antenatal problems for the mother.
Hydatidiform moles are nonneoplastic proliferations of the villous trophoblasts, with two distinct subtypes: complete and partial hydatidiform moles (PHMs). While they share some basic features, that is, hydropic placenta/chorionic villi and trophoblastic hyperplasia, partial and complete moles have significant differences in their genetic composition, clinical presentation, histomorphology, and the subsequent risk of developing persistent gestational trophoblastic disease (GTD) and gestational trophoblastic neoplasia (GTN). At the genetic level, PHMs are typically diandric monogynic triploid gestations, most often arising from two sperms fertilizing an egg. Complete moles on the other hand are most commonly diploid or tetraploid and are entirely paternally derived.
The gynecological tissues of a mature female, because of their reproductive function, contain examples of the most immature as well as mature cell types. Thus, representation of all three germ layers may be found in tumors originating from these tissues. Moreover, new tissue types appear in the course of pregnancy that may also develop aberrantly and give rise to neoplasms. Some of these tumors illustrate mechanisms of tumorigenesis that differ from those operating in other solid tumors and that appear uniquely related to early development.
Trophoblastic diseases encompass the complete and partial hydatidiform moles as well as choriocarcinoma and the very rare placental site tumour. Of these, the hydatidiform moles are of prime relevance at this symposium for they are among the commonest manifestations of abnormal trophoblast and are associated with a sizeable proportion of pregnancy wastage.
Congenital malformations are an important cause of prenatal, perinatal, infant mortality and morbidity. Three percent of newborns have a single major malformation and 0.7% have multiple major defects. The frequency is much higher prenatally, the majority aborting spontaneously. They have fascinated curious individuals for centuries but during the past 50 years infants with major anomalies have become the focus of increasing and diverse professional expertise and consume a large slice of health budgets in developed countries. Their importance as a cause of perinatal mortality has grown as deaths from intrapartum problems have declined and better neonatal care has improved the survival of normally formed low-birthweight babies (see Chap. 8). Clinical interest in malformations has been enhanced because sophisticated surgical and anaesthetic management makes correction of some major defects possible.
The term “gestational trophoblastic neoplasia” (GTN) has become popular in recent years, although it comprises entities that are clearly not neoplastic, such as triploid “partial” moles. Others commonly now refer to these entities as GTDs (gestational trophoblastic diseases) which seems more appropriate as the term includes both nonneoplastic trophoblastic lesions (hydatidiform moles, placental site nodules, exaggerated placental site) as well as trophoblastic tumors (choriocarcinoma, placental site trophoblastic tumor, epithelioid trophoblastic tumor). Driscoll (1981), in an excellent review of the morphology of these diseases, strongly favored abandonment of the time-honored term hydatidiform mole. Fox (1989) has added fuel to the fire by suggesting the following: “Is it, in fact, justifiable to continue distinguishing complete from partial moles in routine histopathological practice?” He based this opinion primarily on the exceptional finding of a single case of choriocarcinoma said to have followed a partial mole (Looi and Sivanesaratnam 1981). Since then, several additional cases have been described in which choriocarcinoma has followed a partial mole (Gardner and Lage 1992; Seckl et al. 2000). Persistent trophoblastic disease has also been described by Rice et al. (1990), Sebire et al. (2003), and Cheung et al. (2004). More recently, Fox (1997), in analyzing the histologic differences between CHM and PHM, concluded that a degree of subjectivity accompanies these decisions, an opinion with which we strongly agree. Malinowski et al. (1995) go even further by suggesting a continuum to exist from molar degeneration to choriocarcinoma when they suggested the existence of the “sad fetus syndrome,” the association of a fetus with molar or neoplastic conditions. This view is not ours, however. After all, choriocarcinoma is also an occasional sequela of an apparently “normal” gestation, as Fox readily conceded in which there may have been a choriocarcinomatous cell line ab initio.
Gestational trophoblastic disease (GTD) encompasses a heterogeneous group of lesions, including hydatidiform mole, invasive mole, choriocarcinoma, and placental site trophoblastic tumor, that are characterized by an abnormal proliferation of trophoblastic tissue. Some of these lesions are true neoplasms, whereas others represent abnormally formed placentas with a predisposition for neoplastic transformation of the trophoblast. The literature on this subject is extensive but sometimes confusing because of inconsistencies in classification and terminology. In fact, the necessity of a morphologic classification has been questioned, since current management is largely medical and in the case of trophoblastic disease following a mole, often conducted in the absence of a histological diagnosis. Thus, all trophoblastic lesions are frequently combined under the rubric of GTD without applying specific pathological terms. Recent cytogenetic and immunocytochemical studies demonstrate profound differences in the etiology, morphology, and clinical behavior of various forms of the disease, however. These studies underscore the importance of a uniform histological classification to facilitate standardized reporting of data and to ensure appropriate clinical management. Nonetheless, the term GTD has clinical utility, since the principles of human chorionic gonadotropin (hCG) monitoring in follow-up and the chemotherapy of metastatic or persistent disease are similar for all these entities.147.
The term “gestational trophoblastic neoplasia” has become popular in recent years, although it comprises entities that are clearly not neoplastic, such as triploid partial moles. Driscoll (1981), in an excellent review of the morphology of these diseases, strongly favored abandonment of the time-honored term hydatidiform mole. Fox (1989) has added fuel to the fire by suggesting the following: “Is it, in fact, justifiable to continue distinguishing complete from partial moles in routine histopathological practice?” He based this opinion primarily on the exceptional finding of a single case of choriocarcinoma said to have followed a partial mole (Looi & Sivanesaratnam, 1981). This view is not ours. After all, choriocarcinoma is also an occasional sequela of an apparently normal gestation, as Fox readily conceded, and there may have been a choriocarcinomatous cell line ab initio. The typical hydatidiform mole (complete mole), syncytial endometritis, invasive moles (chorioadenoma destruens), benign metastasizing mole, the partial hydatidiform mole with or without fetus, and ectopic moles are discussed in this chapter. Their terminology is often confusing and imprecisely used. Choriocarcinoma is covered in Chapter 23.
The partial mole, till recently thought to belong within the same disease entity as the complete mole, is now ccepted as genetically and morphologically distinct, even though both share some clinical and morphologic attributes.1–4 (See Chapter 3.) The anatomic individuality of the partial molar syndrome is characterized by the morphology of the placenta, an ascertainable embryo/fetus, and a chromosomal constitution that is almost invariably triploid (see Chapters 3 and 10). As in the case of the complete mole, the chromosomal error here occurs at fertilization: the egg, containing the usual maternal haploid set of 23,X, is fertilized by two, instead of one, spermatozoa, resulting in a total of 69 chromosomes. A similar result is obtained in a minority of cases when a spermatozoon carrying the total paternal genome of 46,XY effects fertilization.5 The chromosomal situation at fertilization of the partial mole may thus be viewed as somewhat similar to that of dispermic complete mole; the important difference, however, is the persistence of the maternal complement of 23,X, which probably “dilutes” the complete molar syndrome into one of a milder version in its both morphologic and clinical aspects. Whether fertilization occurs by two independently drawn spermatozoa or by a single diploid sperm, the condition is one of diandry, with an excess of paternal over maternal chromosomes, the ratio being 2:1. A minority of triploid conceptuses (15%–20%) formed by a union of two maternal and one paternal haploid sets—a condition of digyny—consist of an embryo/fetus with the usual array of congenital anomalies and a placenta that remains free of molar changes.5 As discussed in Chapter 10, the increased ratio of paternal to maternal chromosomes in the conceptus determines the molar phenotype6 since the paternal chromosomes carry activated genes for the development of the membranes and the trophoblast whereas the maternal genome is activated at loci concerned with the embryo proper.7 The recently described partial molar phenotype of two triandric tetraploid conceptuses supports this idea.6
Congenital malformations are an important cause of perinatal and infant mortality and morbidity. Three per cent of newborns have a single major malformation and 0.7% have multiple major defects. They have fascinated curious individuals for centuries but during the past 50 years infants with major anomalies have become the focus of increasing and diverse professional expertise and consume a large slice of health budgets in developed countries. Their importance as a cause of perinatal mortality has grown as deaths from intrapartum problems have declined and better neonatal care has improved the survival of normally formed low birth weight babies (see Chapter 8). Clinical interest in malformations has been enhanced because sophisticated surgical and anaesthetic management makes correction of some major defects possible. This and the recognition of syndromes, their mode of inheritance and sometimes their aetiology requires detailed information from the pathologist in respect of those babies who die.
Introduction, Molar pregnancy is a term that describes disorders of the villous anatomy which includes pathological anomalies of trophoblast development. The biochemical analysis of the fluid contained in molar vesicles indicates that it is derived from the diffusion of maternal plasma and the accumulation of specific trophoblast proteins. In the case of mole associated with a developing fetus or presenting with fetal remnants the molar vesicle composition is unchanged by any form of fetal metabolism. These biochemical findings suggest that the hydropic (hydatidiform) transformation of the villous mesenchyme results from a lack, maldevelopment or regression of the villous vasculature that makes the drainage of fluid supplied by the trophoblast impossible. The fact that mild to moderate generalized villous edema is often found following the demise of an embryo or early fetus supports this concept and highlights the fact that hydropic villous changes are not synonymous with true molar changes. The vast majority of molar pregnancies miscarry spontaneously during the first 3–4 months of pregnancy resulting in an incidence of molar placenta of 1 per 41 miscarriages. These data suggest that with the development of early pregnancy units (EPU) over the last decade most women with molar pregnancies are likely to be first seen during the first trimester. Gestational trophoblastic disorders (GTD) comprise hydatidiform mole, placental site trophoblastic tumor, choriocarcinoma and gestational trophoblastic neoplasia (GTN). Depending on their origin and anatomical characteristics, GTDs have different fetal and maternal consequences during pregnancy and after delivery.
The clinical course of gestational trophoblastic diseases has changed dramatically in the last 30 years. This is a result of two factors: 1) the effective use of sensitive assays for human chorionic gonadotropin (hCG), and 2) the inherent sensitivity of normal and malignant trophoblastic tissue to chemotherapy. Accurate quantitation of hCG levels has improved the follow-up of patients with hydatidiform mole, identifying as early as possible those patients requiring further therapy. Serial hCG determinations have also been used to accurately monitor patients during and after therapy in order to follow response to treatment, to detect persistent disease, and to detect early relapses.
This paper discusses some aspects of the epidemiology of chromosome abnormalities in man. First, the frequency of chromosome abnormalities in our species is considered; second, information is reviewed on the etiology of three of the main types of chromosome abnormality-trisomy, monosomy and polyploidy; and, third, a discussion of the use of cytogenetic heteromorphisms-that is, microscopically visible markers which label chromosomes-in determining the time and place of origin of many types of abnormality.
The first case of hydatidiform mole associated with trisomy 2 is presented. A plea is made for systematic karyotyping of all moles and for careful correlation of cytogenetic and morphologic data.
(C) 1974 The American College of Obstetricians and Gynecologists
Partial hydatidiform mole differs from complete mole by its focal distribution, its slower transformation, the presence of an embryo or fetus, and the triploid karyotype. Nineteen pathologically proved cases are presented. Partial mole can be diagnosed by a combination of the following sonographic findings: (a) greatly enlarged placenta relative to the size of the uterine cavity, (b) cystic spaces within the placenta ("molar placenta"), which may not always be present, (c) an amniotic cavity (gestational sac), either empty or containing amorphous fetal echoes, and (d) a well-formed but growth-retarded fetus, either dead or alive.