Incidence Of Hydatidiform Mole Research Articles

Factors Contributing to Molar Pregnancy Through a Study in Jiblah University Hospital, IBB: Study from 2017 to 2022

Background: The reported prevalence rates of hydatidiform mole (HM) vary greatly across geography and time, making worldwide comparisons challenging, especially in developing countries and resource-limited settings. To date, few studies have been reported in Yemen regarding the epidemiology, management, and outcome of patients with HM. The current study sought to investigate the prevalence of HM among women who visited a large tertiary center at Jiblah University Hospital in Yemen. Method: A retrospective study was conducted between Jun 2017 and Sep 2022 at Jiblah University Hospital, Ibb, Yemen including all women with a diagnosis of HM. Complete medical histories for all HM patients were collected and analyzed. Results: A total of 160 women diagnosed with HM at Jiblah University Hospital -Ibb study from 2017 to 2022 years were included in the study. The mean gestational age on admission was 25.2 years. Sixty-two patients (38.7%) have Hb less than normal range and 94 of patients (58.8 %) have Hb normal range 12- 15g/dl and 4 patients (2.5 %) have Hb more than normal range 15g/dl. However, the percentage blood types (A+, A-, B-, B+, O+, O- and AB+) were 40.6%, 0.6%, 5%, 0.6%, 41.9 %, 7.5% and 3.8%, respectively. On the other hand, among the sample, 4 (2.5%) women were diagnosed histopathologically to have previous V.M and while 156 (97.5%) women were diagnosed histopathologically to have no previous V.M. A number of women who had previous abortion were recorded 46(28.7%) and while the women had not previous abortion was 114(41.4%). Among the women who had smoking and no smoking were recorded 2(1.3%) and 158(98.7%), respectively. Finally, unfortunately the researchers didn’t find following risk factors in the register of patients, such as (Ovulation induction, genes mutation, infertility and birth control pills), by researching the record of patients with HM or registered as having HM. However, our study found the relationship between age groups and the previous abortion about associate risk factors of molar pregnancy. There is statistically significant difference between previous abortion and age, with P-value =0.007. Conclusion: The present study showed that incident hydatidiform mole were higher in 20-29 years of maternal age, so we found that the incidence of HM in younger age patients is the most common. Also, we found that the significant positive correlation was found between age with previous abortions. Therefore, it is recommended that women should undergo health care before pregnancy and further studies are required to provide solutions to reduce the cases of HM.

Hydatidiform Mole Types and Age Demographics in Sindh Province, Pakistan

Hydatidiform mole can be classified as partial and complete depending on the clinical and histopathological features. There is regional variation in incidence of hydatidiform mole with more cases seen in Asia, Africa and other developing countries. This cross-sectional descriptive study was done at the department of histopathology in Diagnostic and research laboratory Hyderabad Sindh. A total of 261 cases were added in the study including 251 cases of suction and evacuation and 10 cases of hysterectomy. The mean age was 27.16±6.66 with age range of 17-60 years. In our study out of 260 samples, 155(59.6%) were of complete mole while 105(40.4%) were of partial mole. The incidence of mole was highest in the age group 26-30 years. The prevalence of hydatidiform mole was notably higher in comparison to numerous other studies. In conclusion, it is recommended that all abortion specimens undergo evaluation to prevent misdiagnosis of gestational trophoblastic disease and to ensure appropriate treatment and follow-up, thereby minimizing the risk of complications. Keywords: Hydatidiform mole. Complete mole. Partial mole. Molar pregnancy.

Epidemiologic study on gestational trophoblastic diseases in Japan.

This study aims to estimate the population-based incidence of gestational trophoblastic diseases (GTDs) and to identify the characteristics of gestational trophoblastic neoplasia (GTN) in Japan. The annual number of GTD and live births from 1974 to 2018 were used to estimate the incidence of GTD. The data of 1,574 GTN cases from 1999 to 2018 were analyzed to identify the characteristics of low-risk GTN, high-risk GTN, placental site trophoblastic tumor (PSTT), and epithelioid trophoblastic tumor (ETT). The incidence of hydatidiform mole was 2.02 per 1,000 live births on average which decreased from 1974 to 2008 and increased from 2009 to 2018. The incidence of low-risk GTN, high-risk GTN, PSTT, and ETT was 15.3, 3.5, 0.3, and 0.07 per 100,000 live births, respectively. The estimated incidence of post-molar GTN was 9.8% of molar patients. High-risk GTN was diagnosed more pathologically, had more various kinds of antecedent pregnancies, and had longer intervals after the antecedent pregnancy compared to low-risk GTN. Furthermore, 8.2% of high-risk GTN occurred after the subsequent non-molar pregnancy of hydatidiform mole. The cumulative percentage of developing high-risk GTN after hydatidiform mole reached 89.3% at the 60th month. The incidence of hydatidiform mole, low-risk GTN, high-risk GTN was 2.02 per 1,000 live births, 15.3 per 100,000 live births, and 3.5 per 100,000 live births, respectively. High-risk GTN was diagnosed more pathologically and later after the antecedent pregnancy than low-risk GTN. Following molar patients for five years is needed to improve the mortality of malignant GTN.

The current situation of health services for hydatidiform mole in Cambodia

Management of hydatidiform mole is important to reduce the mortality and morbidity of choriocarcinoma. This study aims to understand the existing health services for hydatidiform mole and to estimate the incidence of gestational trophoblastic disease (GTD) in Cambodia. A questionnaire was used to collect information on the existing health services for pregnancy and hydatidiform mole at health facilities from attendants of the 16th Annual Conference of the Cambodian Society of Gynecology and Obstetrics in 2017. The incidence of GTD in 2014-2017 was estimated using Health Information System data. A total of 126 attendants, who were from all provinces except three provinces, answered the questionnaire. The work places were national hospitals (n=29), provincial hospitals (n=42), district hospitals (n=20), health centers (n=6), and others (n=29). The answers of participants from the public sector suggested the following: Ultrasonography is available at all hospitals but not health centers; Human chorionic gonadotropin (hCG) measurement is only available at national hospitals; Treatment of hydatidiform mole is performed at national hospitals and provincial hospitals; and Treatment of gestational trophoblastic neoplasia (GTN) is provided at national hospitals. The incidence of hydatidiform mole and GTN at health facilities in the public sector in 2014-2017 was 0.95 per 1000 deliveries and 6.58 per 100 000 deliveries, respectively. The results suggest that provincial hospitals are important to detect suspected invasive mole and refer to national hospitals for diagnosis and treatment. Further studies on the management of GTD and development of the guidelines of GTD are needed.

A possible association between hydatidiform mole and the COVID-19 pandemic: A retrospective cohort study

ObjectiveTo confirm an increase in the number of women with molar pregnancy during the COVID-19 pandemic. MethodsIn 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 October 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. ResultsBetween 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). ConclusionThere 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.

THYROTOXICOSIS IN PATIENTS WITH HYDATID MOLE

Mola Hydatidosa, juga sering disebut hamil anggur, merupakan kehamilan yang ditandai dengan perkembangan trofoblas yang tidak normal. Insiden mola hidatidosa per 1.000 kehamilan terjadi di Asia. Di Indonesia, pada tahun 2002 ditemukan kasus mola hidatidosa 1:123 kehamilan, dan pada tahun 2003 ditemukan kasus mola hidatidosa 1:245 kehamilan. Sedangkan hasil penelitian yang dilakukan di tempat yang sama pada tahun 2012–2013 diperoleh sebanyak 39 kasus mola hidatidosa yang didistribusi berdasarkan kelompok umur, paritas, pendidikan, dan kadar hemoglobin penderita. Hipertiroid Trofoblastik adalah kasus yang jarang tetapi dapat mengancam jiwa. Alfa subunit-human chorionic gonadotropin (HCG) menyerupai dengan alfa sub unit-thyroid stimulating hormon (TSH). Jika konsentrasi HCG meningkat pada waktu yang panjang, hal itu dapat meningkatkan kadar free T4 dan free T3. Pada pasien ini didapatkan pula terjadinya hipertensi mendadak, proteinuria 3+, ketonuria 3+, hematuria 3+, lekosituria 1+, bakteriuria yang kemungkinan dapat disebabkan oleh karena terjadinya suatu pre-eklampsia atau ISK pada pasien ini. Penyebab terjadinya pre-eklampsia pada kehamilan mola diperkirakan oleh karena berlebihannya kadar soluble fms-like tyrosine kinase 1 (sFlt1) di sirkulasi, protein anti-angiogenic endogen yang masuk ke sirkulasi ibu setelah diproduksi berlebihan di placenta.

Decreasing incidence of registered hydatidiform moles in Denmark 1999\u20132014

Incidences of hydatidiform mole (HM) registered in European countries varies from 0.98/1000 to 2.17/1000 deliveries, while higher incidences have been reported in other parts of the world. We calculated the incidence by selecting data on HMs classified as ”first”, “second” and “third” from 01.01.1999 to 31.12.2014 registered in the Danish Pathology Registry, which we previously showed to be the most complete data source on the number of HMs in Denmark. In the study period, 1976 first HMs were registered; 1080 (55%) were classified as PHMs (partial HMs) and 896 (45%) as NPHMs (HMs not registered as PHMs). The average incidence of HM was 1.98/1000 deliveries. The incidence of PHM was 1.08/1000 deliveries and the incidence of NPHM was 0.90/1000 deliveries. Forty HMs were registered as second HMs; 85% (34/40) were of the same histopathological type as the first HM. The registered incidence of HM decreased from 2.55/1000 deliveries in 1999 to 1.61/1000 deliveries in 2014 (p < 0.005). The decrease in the incidence of HM was identical with a decrease in the incidence of PHM. New medical practices such as medical abortion and only forwarding selected pregnancy products for histopathologic examination may cause a declining number of HMs registered.

The management of hydatidiform mole using prophylactic chemotherapy and hysterectomy for high-risk patients decreased the incidence of gestational trophoblastic neoplasia in Vietnam: a retrospective observational study.

ABSTRACTThe management of hydatidiform mole (HM) and the incidence of post-molar gestational trophoblastic neoplasia (GTN) in Vietnam has not been reported to date. This study aimed to study the incidence of HM and post-molar GTN and identify factors associated with post-molar GTN at a tertiary hospital in Vietnam. Five hundred and eighty-four patients who were treated for HM at Tu Du Hospital between January and December 2010 were included in this study. The mean age and gestational age at the first evacuation were 28.8 years old and 11.0 weeks, respectively. After the initial evacuation and pathological examination, 87 patients who were older than 40 or did not wish to have children underwent a hysterectomy, while the others underwent second curettage. All 472 patients who had human chorionic gonadotropin (hCG) ≥ 100,000 IU/L before treatment received one cycle of methotrexate with folinic acid as prophylactic chemotherapy. The incidence of HM was 11.1 per 1,000 deliveries; 47 patients (8.0%) developed post-molar GTN. Gestational week, hCG level at one week after the first evacuation, and pathological remnants were significantly associated with the development of post-molar GTN. The results of this study suggest that prophylactic chemotherapy and hysterectomy may be useful for high-risk HM patients to reduce post-molar GTN in settings in which the risk of post-molar GTN and loss to follow-up after HM are greater and hCG measurements and appropriate GTN treatments are unavailable. However, future studies on the long-term outcomes and side effects of prophylactic therapies on HM are required.

The frequency of hydatidiform mole in a tertiary care hospital from central India

Introduction: The gestational trophoblastic disease (GTD) is a group of pregnancy related tumours encompassing complete and partial mole, invasive moles, choriocarcinomas and placental site trophoblastic tumours. Amongst all GTD, hydatidiform moles are the most common form. Hydatidiform mole is a relatively common gynecological condition which could presents like spontaneous abortion, one of the most common gynecological emergencies. Materials and Methods: Present study is a retrospective analysis to determine incidence of hydatidiform mole for eight years duration.All women who were diagnosed of molar pregnancy by estimation of beta hCG and histopathological examination during1st Jan 2010 to 31st Dec 2017 were enrolled in this study. During the study period, there were 84 cases of Molar pregnancy out of 33856 total deliveries. Results: The total number of deliveries reported in the study period was 33856 out of which 84 cases were of gestational trophoblastic disease (GTD). The prevalence of GTD in this tertiary care hospital was 2.48 per 1000 deliveries. During the study period, we had received 55 samples of products of conception and 3079 hysterectomy specimens. Out of 3134 cases, 84 cases were diagnosed as GTD. Out of these 84 cases 81cases were hydatidiform mole. There were two cases of choriocarcinomas and one case of placental site trophoblastic tumour. Conclusion: The prevalence of hydatidiform mole was higher among all entities of gestational trophoblastic disease. The serum beta hCG levels are very sensitive and specific for diagnosis. Histopathological examination is helpful for confirming diagnosis. Keywords: Molar, Hydatidiform mole, Trophoblast.

P57kip2 immunohistochemical marker as a diagnostic tool for cases of hydatidiform moles in a tertiary health facility in Southwestern Nigeria.

Hydatidiform mole (HM) is the most common gestational trophoblastic disease. P57kip2 has been reported to be helpful in differentiating between partial and complete HMs. The study aims to evaluate the P57kip2 immunohistochemical (IHC) marker as a useful ancillary investigation to differentiate complete hydatidiform mole (CHM) from partial hydatidiform mole (PHM). A retrospective study of all histologically diagnosed HM cases over a 20 year period was undertaken. Clinicopathological parameters were extracted from the surgical day book and medical record archives. Archival haematoxylin- and eosin-stained slides and formalin-fixed paraffin-embedded tissue blocks of all cases of HM diagnosed within the study period were retrieved and reviewed. Cases of HM were reclassified using the P57kip2 IHC marker. The data obtained were analysed using the SPSS version 23. One hundred cases of HMs were studied. CHM accounted for 68%, while PHM accounted for the remaining 32%. The incidence of HM was 2.98 cases per 1000 deliveries. The ratio of CHM to PHM was found to be 2.1:1. Seventy-two per cent of the cases were diagnosed in the first trimester, while the remaining 28% were diagnosed in the second trimester of pregnancy. Based on the P57kip2 IHC staining pattern, HM cases were finally reclassified into 68 cases of CHM and 32 cases of PHM. The age range for all the HM cases was 18-50 years with the majority of the cases seen in the third and fourth decades of life. P57kip2 could be useful as an ancillary investigation in confirming the diagnosis of CHM and differentiating it from PHM, particularly in difficult and challenging cases.

Temporal trends in incidence and outcome of hydatidiform mole: a retrospective cohort study

Background: Reported incidence rates of hydatidiform mole (HM) show wide geographic and temporal variations, making reliable international comparisons difficult. The aim of the current study was to examine temporal trends in the incidence of HM and post-molar gestational trophoblastic neoplasia (GTN) in Stockholm County.Material and methods: Data of all women with a diagnosis of HM in Stockholm County 1991–2010 was collected. The incidence of HM was assessed both in relation to number of births and viable conceptions (births and pregnancy terminations). The risk of post-molar GTN was analysed for all HM, as well as for the subtypes complete (CHM) and partial hydatidiform mole (PHM). Temporal trends were analysed by stratifying the study period into five-year intervals.Results: The overall incidence rate of HM was 2.08/1000 deliveries and 1.48/1000 viable conceptions. A significant temporal increase in the incidence rate of HM, as well as in the total number and proportion of PHM, was seen. Among 956 women with HM, 77 (8%) progressed into post-molar GTN. There was evidence of a slight, but non-significant increase in the risk of malignancy in the two last five-year periods under study.Conclusions: We found evidence of a significant temporal increase in the incidence rate of HM, which could not fully be explained by an increase in maternal age over time. Changes in diagnostic methods probably contributed to the increased incidence rate of PHM. The risk of post-molar GTN remained constant over time.

Partial Hydatidiform Mole with Alive Term IUGR Foetus

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

Correlation between Three Pregnancy Characteristics (Age, Parity, βhCG Level) and pAkt Immunoexpression on Complete Hydatidiform Mole

The incidence of hydatidiform mole as pregnancy failure is still high in Asia, leading to high mortality and morbidity. Several risk factors play roles in the occurrence of hydatidiform mole, including age and parity. Until now, β-human chronic gonadotropin (βhCG) is used to predict the risk and development of hydatidiform mole. Akt, also known as protein kinase B (PKB), is a downstream effector of the intracellular phosphatidylinositol 3-kinase (PI3K) signaling pathway, which is a central regulatory pathway for cell proliferation, growth, differentiation, and survival. This study aimed to analyze the correlation between three pregnancy characteristics i.e. age, parity, levels of βhCG and pAkt immunoexpression. Cross sectional study was conducted on 30 samples of complete hydatidiform mole (CHM). The βhCG content was measured by ELISA method. The immunoexpression of pAkt was measured by immunohistochemical staining using the phospho-Akt antibody (Ser473) (736E11) Rabbit mAb # 3787 (CST). Cells with positive pAkt immuno-expression showed brown color. The stronger the intensity of the visible brown color, the higher the level of expression. pAkt immunoexpression level was then expressed as histoscore value, which was calculated using staining intensity and positively-stained-cell distribution number. When the immuno-expression level was high, its histoscore value would be high too. Results of this study showed that the histoscore of pAkt samples ranged from 0-16 with a median value 4, and the most samples (56.7%) had histoscore ≤ 4. Correlation coefficient (p) value that was used in this study was 0.01. Correlation between two variables was significant if p βhCG level and pAkt immunoexpression showed statistically significant correlation (p = 0.00). It was concluded that there was no significant correlation between maternal age and parity and pAkt immunoxpression (p > 0.01), but there was a significant correlation between βhCG levels and pAkt immunoxpression (p

A Reappraisal of the Incidence of Placental Hydatidiform Mole Using Selective Molecular Genotyping.

Reports on the incidence of hydatidiform mole (HM) have varied depending on study population and methodology. This institutional-based study was undertaken to identify the incidence of HM in a modern obstetric practice using advanced laboratory diagnostic techniques. A retrospective review of consecutive hospital cases of HM was conducted for a 27-month period. Pathologic diagnoses of partial mole (PM) and complete mole (CM) were based on histopathologic assessment and selective use of p57 immunohistochemistry and molecular genotyping (MG) using formalin-fixed paraffin-embedded tissues. During the study period, 14,944 obstetric deliveries took place at our institution. Forty-nine cases of HM (18 CMs, 31 PMs) were identified. Histopathology with the selective use of p57 immunohistochemistry was used in 25 of 49 HMs (18 CMs, 7 PMs). Histopathologic features were equivocal in the remaining cases (24/49 cases), and adjunctive MG was performed; all were PMs. The incidence of HM was 3.3/1000 deliveries. Partial mole was more prevalent with a CM (PM ratio, 1:1.72). Our observed incidence of HM is greater than previous studies and is attributable to improved detection of PM cases. Molecular genotyping and cytogenetic evidence indicate that CM is almost half as common as PM. This ratio may be useful in benchmarking laboratory diagnosis and HM registries.

Epidemiology of Hydatidiform Moles in a Tertiary Hospital in Thailand over Two Decades: Impact of the National Health Policy.

The incidence of hydatidiform mole (HM) differs among regions but has declined significantly over time. In Thailand, the initiation of universal health coverage in 2002 has resulted in a change of medical services countrywide. However, impacts of these policies on gestational trophoblastic disease (GTD) cases in Thailand have not been reported. This study aimed to find the incidence of hydatidiform mole (HM) in King Chulalongkorn Memorial Hospital (KCMH) from 1994-2013, comparing before and after the implementation of the universal coverage health policy. All cases of GTD in KCMH from 1994-2013 were reviewed from medical records. The incidence of HM, patient characteristics, treatment and remission rates were compared over two study decades between 1994-2003 and 2004-2013. Hydatidiform mole cases decreased from 204 cases in the first decade to 111 cases in the seond decade. Overall incidence of HM was 1.70 per 1,000 deliveries. The incidence of HM in the first and second decades were 1.70 and 1.71 per 1,000 deliveries, respectively (p=0.65, 95%CI 1.54-1.88). Referred cases of nonmolar gestational trophoblastic neoplasia (GTN) increased from 12 (4.4%) to 23 (14.4%, p<0.01). Vaginal bleeding was the most common presenting symptom which decreased from 89.4% to 79.6% (p=0.02). Asymptomatic HM patients increased from 4.8% to 10.2% (p=0.07). Rate of postmolar GTN was 26%. The number of HM cases in this study decreased over 2 decades but incidence was unchanged. Referral rates of malignant cases were more common after universal health coverage policy initiation. Classic clinical presentation was decreased significantly in the last decade.

ENFERMEDAD TROFOBLASTICA GESTACIONAL. "MOLA INVASIVA"

Se realizó el estudio clínico estadístico de 58 casos de enfermedad trofoblástica gestacional que ocurrieron en 30,747 partos y 6,506 abortos durante el año 1983 en el Hospital Maternidad de Lima. Clínicamente y sin confirmación histopatológica, se hizo el diagnóstico retrospectivo de mola invasiva en 14 casos. Se demuestra que la incidencia de la mola hidatidiforme y de la mola invasiva es alta en nuestro medio. El cuadro clínico de la mola invasiva es igual al de la mola común, sin embargo, la sintomatología puede ser más espectacular, la que obliga a tratamientos adicionales, como un segundo legrado uterino, histerectomías o el empleo de quimioterápicos. Existe tasas altas o persistentes de gonadotrofinas coriónicas y marcada actividad trofoblástica con signos de atipicidad severa de grado variable.

Reporting and incidence trends of hydatidiform mole in Sweden 1973–2004

Objective. To examine temporal trends in the incidence of hydatidiform mole (HM) in relation to maternal age, the occurrence of choriocarcinoma in women with a history of HM and the extent of underreporting of HM to the Swedish Cancer Register (SCR). Methods. Women registered with a diagnosis of HM were identified in the Swedish Cancer Register and the Swedish Inpatient Register (IPR). Record linkage to the Medical Birth Register provided information to assess the incidence of HM. Results. We identified 3 844 unique cases of HM in the SCR and in the IPR combined between 1973 and 2004, yielding an incidence of 1.2 per 1 000 deliveries. The incidence of HM increased during the period under study. The highest incidence was observed in women below 20 and above 39 years of age. Of all registered cases of choriocarcinoma, 37% occurred in women with a previous history of HM. The risk of choriocarcinoma following HM was 1.3%, compared to 0.005% in women without a previous molar diagnosis. The records of the Cancer Register included 83.2% of all identified cases of HM. Conclusion. The incidence of HM in Sweden has increased over time, and is characterized by a bimodal pattern with distinctive peaks in the youngest and oldest women of reproductive age. More than one third of all women registered with choriocarcinoma had a previous diagnosis of HM. Despite mandatory reporting, there was evidence of underreporting of HM to the SCR that remained virtually unchanged over calendar time.

A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation

Hydatidiform mole (HM) is an abnormal human pregnancy characterized by absence of, or abnormal, embryonic development and hydropic degeneration of chorionic villi. The common form of this condition occurs once in every 1000–1500 pregnancies in Western countries (1), but at higher frequencies in India. The incidence of HMs in India is 1 in every 83–500 pregnancies depending on regions and studies (2, 3). HMs are usually sporadic and not recurrent. Among women with sporadic moles, 1–6% will have a second mole (4–11), and 10–20% will have a second non-molar reproductive wastage, mostly as a spontaneous abortion (7, 11, 12). The frequency of familial recurrent HMs (RHMs) is not known, but such cases are believed to be very rare. To date, 23 different mutations in NLRP7 have been reported in women with RHMs and reproductive wastage. Four of these mutations, p.Arg693Pro, p.Glu710Aspfs7X, p.Leu750Val, p.Leu825X, have been found in unrelated families from the same population indicating the presence of founder effects for these mutations (13–16). We previously reported two mutations in Indian families, p.Arg693Pro and p.Asn913Ser, and the former was found in two unrelated families (14). In this study, we searched for mutations in NLRP7 in 10 new unrelated Indian patients with recurrent HMs and reproductive wastage. Eight of the cases originate from various states in Northwest India, Jammu and Kashmir, Punjab, Chandigarh, Haryana, and Uttar Pradesh, and two cases, MoIn105 and MoIn106, originate from West Pakistan and migrated to India about 50 years ago. Mutation analysis was performed as previously described by genomic DNA sequencing of the 11 NLRP7 exons in the two directions and revealed NLRP7 mutations in seven patients. All the seven patients had two previously identified mutations in Indian patients, c.2078G>C, p.Arg693Pro and c.2738A>G, p.Asn913Ser. Three patients were compound heterozygous for the two mutations; three were homozygous for p.Arg693Pro; and one was homozygous for p.Asn913Ser. The analysis of available parents and relatives demonstrated the segregation of the mutations in their respective families (Figure 1). In family MoIn93, a woman with a history of infertility of unexplained clinical origin was found compound heterozygous for the two mutations. To date, we have analyzed 12 unrelated Indian patients, selected based only on their medical history and not on linkage to the locus spanning NLRP7, and found NLRP7 mutations in nine of them (75%). This result was unexpected since only half of patients with recurrent HM and no family history of moles referred to our laboratory (from various populations) have mutations/variants in NLRP7. The DNA change leading to p.Arg693Pro was found on 12 chromosomes (66.6%) and the allele leading to p.Asn913Ser on six chromosomes (33.4%). Haplotypes were established based on alleles found in five homozygous patients and on the analysis of three heterozygous patients and their available parents and siblings at 30 single nucleotide polymorphisms in NLRP7. Haplotype analysis shows a common haplotype carrying each of the mutations and demonstrates the presence of a strong founder effect for these two mutations in the Indian population (Table 1). This is further supported by the fact that four of the analyzed patients are homozygous despite the absence of known consanguinity between their parents. The two mutations modify recognition sites for restriction enzymes and can be easily tested in Indian patients with recurrent HMs and reproductive wastage. A number of synonymous and non-synonymous variants were also found in the patients. c.574A>C, p.Met192Leu was found in a heterozygous state in patient 678 and in 2 out 38 controls of Indo-Pakistani origin. All the other variants are known polymorphisms frequently found in several populations. Figure 1 Pedigree structures and reproductive outcomes of seven Indian families with recurrent reproductive wastage and NLRP7 mutations. The reproductive outcomes are listed by chronological order from left to right. Gestational age is from the last menstrual ... Table 1 Haplotype analysis at all NLRP7 variants found in 8 unrelated Indian patients In family MoIn106, one male with one child and no reproductive problems was found compound heterozygous for the two mutations. This is the third reported male with two NLRP7 mutations and no reproductive problems (13). Our data demonstrate the presence of two founder mutations in the Indian population, expand further the involvement of NLRP7 mutations to a wider spectrum of reproductive wastage, and provide further indications that NLRP7 mutations have no consequences on male reproduction. The presence in several populations of founder effects for a condition that prevents the reproduction of homozygous females is by itself intriguing and may reveal in the future male and/or heterozygous females advantage.

Gestational trophoblastic neoplasia: Are we compliant with the standards?

SummaryThis study was conducted to assess the management of gestational trophoblastic diseases (GTN) in a district general hospital in accordance with the RCOG guidelines. A retrospective case notes review over a 5-year period found a total of 23 patients treated in this hospital. The annual incidence of hydatidiform mole was 1.3/1,000 deliveries (3,500 deliveries per annum). Ultrasound scanning diagnosed or suspected GTN in only nine of the 23 cases (39%); six women (26%) were diagnosed as missed miscarriage and another six (26%) were diagnosed as incomplete miscarriage. Eleven patients (48%) were not suspected before histological diagnosis. A total of 16 of the 23 cases (70%) were complete moles and the rest were partial moles; 19 of the 23 (83%) were referred to a specialist centre of which 60% were referred within 1 month. The rest were not documented. Contraceptive advice was documented only in 11 case notes (48%). Women with molar pregnancy should be referred to a specialist centre as early as possible and within 2–4 weeks of histological diagnosis, after appropriate counselling and contraceptive advice.

Changes in the incidence of molar pregnancies. A population-based study in Chiba Prefecture and Japan between 1974 and 2000.

The aim of this population-based retrospective study was to evaluate the trend in the incidence of molar pregnancy. Questionnaires about the occurrence of hydatidiform mole were mailed to all clinics and hospitals in Chiba Prefecture between 1974 and 2000. The diagnosis of hydatidiform mole was based on the post-operative morphological and/or pathological findings. Data of live births were collected from the annual reports of maternal and child health statistics. A total of 3778 women with hydatidiform mole and 1 661 579 women with live births were analysed. The incidence of hydatidiform mole per 1000 live births was constant from 1974 to 1990, while it decreased significantly after 1991 (chi(2)-test for trend, P < 0.0001). The incidence of complete mole also decreased after 1991 (chi(2)-test for trend, P = 0.0001), though the incidence of partial mole remained unchanged. The incidence of hydatidiform mole in Chiba Prefecture has become as low as that in Europe or the USA, and it is attributed to the decreasing incidence of complete mole. A number of environmental factors that prevent the ovulation of 'empty' oocytes might have contributed to the decreasing incidence of complete mole.