Diagnostic Utility of Microsatellite Genotyping for Molar Pregnancy Testing

2013 ◽  
Vol 137 (1) ◽  
pp. 55-63 ◽  
Author(s):  
Larissa V. Furtado ◽  
Christian N. Paxton ◽  
Mohamed A. Jama ◽  
Sheryl R. Tripp ◽  
Andrew R. Wilson ◽  
...  

Context.—Molecular genotyping by analysis of DNA microsatellites, also known as short tandem repeats (STRs), is an established method for diagnosing and classifying hydatidiform mole. Distinction of both complete hydatidiform mole and partial hydatidiform mole from nonmolar specimens is relevant for clinical management owing to differences in risk for persistent gestational trophoblastic disease. Objective.—To determine the technical performance of microsatellite genotyping by using a commercially available multiplex assay, and to describe the application of additional methods to confirm other genetic abnormalities detected by the genotyping assay. Design.—Microsatellite genotyping data on 102 cases referred for molar pregnancy testing are presented. A separate panel of mini STR markers, flow cytometry, fluorescence in situ hybridization, and p57 immunohistochemistry were used to characterize cases with other incidental genetic abnormalities. Results.—Forty-eight cases were classified as hydatidiform mole (31, complete hydatidiform mole; 17, partial hydatidiform mole). Genotyping also revealed 11 cases of suspected trisomy and 1 case of androgenetic/biparental mosaicism. Trisomy for selected chromosomes (13, 16, 18, and 21) was confirmed in all cases by using a panel of mini STR markers. Conclusions.—This series illustrates the utility of microsatellite genotyping as a stand-alone method for accurate classification of hydatidiform mole. Other genetic abnormalities may be detected by genotyping; confirmation of the suspected abnormality requires additional testing.

2017 ◽  
Vol 12 (2) ◽  
pp. 86-87
Author(s):  
Shahana Ahmed ◽  
Dipti Rani Shaha

Invasive mole is a condition where a molar pregnancy, such as a partial hydatidiform mole or complete hydatidiform mole, invades the wall of the uterus, potentially spreading and metastasizing to other parts of the body. Here is a case who presented with history of evacuation for molar pregnancy. She presented with irregular P/V bleeding on and off and after admission silent perforation with massive haemoperitoneum was detected for which emergency laparotomy was done. She recovered and was followed up till her b-hCG levels were within normal limits. As patient presented to us with haemoperitoneum and on laparotomy, there was invasion into whole of the uterus, it could not be saved and hysterectomy was done.Faridpur Med. Coll. J. Jul 2017;12(2): 86-87


2003 ◽  
Vol 6 (1) ◽  
pp. 69-77 ◽  
Author(s):  
Neil J. Sebire ◽  
Rosemary A. Fisher ◽  
Helene C. Rees

The diagnosis of molar pregnancy is a continuing diagnostic problem for many practicing histopathologists who are required to examine specimens of products of conception, particularly since changes in gynecological management in recent years have resulted in uterine evacuation at earlier gestations. The aim of this review is to provide practical, up-to-date, diagnostically useful information regarding the histological diagnosis of molar disease in early pregnancy. Pathophysiological issues relevant to molar pregnancies, such as genetic abnormalities, will be briefly summarized, but nonhistopathological aspects of molar disease will not be covered in detail in this review.


2009 ◽  
Vol 2009 ◽  
pp. 1-3 ◽  
Author(s):  
M. De Vos ◽  
M. Leunen ◽  
C. Fontaine ◽  
Ph. De Sutter

Background. The preferred treatment method of most hydatidiform moles is suction aspiration. In rare circumstances uterine abnormalities may preclude surgical treatment.Case. We report a case of complete molar pregnancy successfully treated with methotrexate followed by EMA/CO. A 38-year-old woman with a complete hydatidiform mole and multiple uterine fibroids underwent a failed attempt at suction aspiration. Following treatment with methotrexate, a nonmetastatic persistent trophoblastic tumour developed. Six cycles of EMA/CO led to complete remission.Conclusion. We propose that primary treatment of molar pregnancies with chemotherapy is a useful treatment option in cases where uterine abnormalities interfere with suction aspiration.


2021 ◽  
pp. 82-82
Author(s):  
Predrag Jokanovic ◽  
Aleksandar Rakic

Introduction. Measurement of the serum levels of human chorionic gonadotropin?s beta isoform (bhCG) remains a crucial marker for diagnosing the GTN. Choriocarcinoma is commonly diagnosed due to extremely high levels of bhCG, but the presence of distant metastasis is not uncommon. Placental site trophoblastic tumor and epithelioid trophoblastic tumor remain some sort of an enigma because the levels of bhCG are usually low. Case report. A 44-year old patient, P2G3,was admitted to the Clinic under the suspicion of molar pregnancy, vaginal bleeding with variable intensity, and levels of bhCG of 1 837 787 mIU/mL. After two explorative curettages, bhCG saw a decline and a partial hydatidiform mole was diagnosed histopathologically. The patient was admitted to the Clinic on two occasions due to the increasing values of bhCG. Since bhCG failed to drop after two explorative curettages, hysteroscopic biopsy, one chemotherapy cycle, along with the suspicious ultrasonographic feature of metastatic GTN and the fact that the patient has refused further chemotherapy, a total laparoscopic hysterectomy was performed. Histopathological exam made the diagnosis of choriocarcinoma. A 50-year old patient, P2G4, was admitted to the Clinic under the ultrasonographic suspicion of molar pregnancy. She was complaining of pelvic discomfort and frequent urination. Initial levels of bhCG were 128 351 mIU/mL. Instrumental revision of the uterine cavity was performed and partial hydatidiform mole was diagnosed histopathologically. Because of the increasing levels of bhCG, ultrasonographical suspicion of the development of GTN in the uterine corpus, in accordance with patient?s age and the fact that she has regular menstrual cycles, total laparoscopic hysterectomy was performed, and a histopathological exam made the diagnosis of the placental site trophoblastic tumor. Conclusion. Laparoscopic hysterectomy could be a treatment of choice for the chemotherapy resistant GTNs but also for the choricarcinoma in patitent?s who have finished their reproductive activity and refuse to be treated with chemotherapeutics.


2020 ◽  
Vol 59 (4) ◽  
pp. 570-574
Author(s):  
Shina Oranratanaphan ◽  
Yuthana Khongthip ◽  
Wilasinee Areeruk ◽  
Surang Triratanachat ◽  
Patou Tantbirojn ◽  
...  

2018 ◽  
pp. bcr-2018-225545
Author(s):  
Ream Langhe ◽  
Bogdan Alexandru Muresan ◽  
Etop Akpan ◽  
Nor Azlia Abdul Wahab

The classic features of molar pregnancy are irregular vaginal bleeding, hyperemesis, enlarged uterus for gestational age and early failed pregnancy. Less common presentations include hyperthyroidism, early onset pre-eclampsia or abdominal distension due to theca lutein cysts. Here, we present a case of molar pregnancy where a woman presented to the emergency department with symptoms of acute abdomen and was treated as ruptured ectopic pregnancy. The woman underwent laparoscopy and evacuation of retained products of conception. Histological examination of uterine curettage confirmed the diagnosis of a complete hydatidiform mole. The woman was discharged home in good general condition with a plan for serial beta-human chorionic gonadotropin (beta-hCG) follow-up. Complete follow-up includes use of contraception and follow-up after beta-hCG is negative for a year.


2014 ◽  
Vol 40 (3) ◽  
pp. 29-32
Author(s):  
Asma Habib ◽  
Md. Mofazzel Hossain ◽  
Fauzia Jahan

Gestational trophoblastic tumour/disease (GTT/GTD) is unique it cancer biology in that they result from aberrations of either a normal or an abnormal pregnancy. The most common antecedent pregnancy event to GTT is a complete or partial hydatidiform mole (HM). However, persistent trophoblastic disease or choriocarcinoma can follow a complete hydatidiform mole with an incident of approximately 8%, and after a partial hydatidiform mole with an incidence of approximately 0.5%. The exact proportion of cases of hydatidiform mole transforming to choriocarcinoma cannot be clearly estimated, approximately 3% to 5% of cases of complete hydatidiform mole. 1-3 Therefore,  all patients with GTT need to be monitored so that the small proportion of persistent mole or choriocarcinoma can receive prompt treatment and elimination of their' disease. The recommendation stands as strict avoidance of pregnancy for at least one year after treatment of molar pregnancy or low risk non-metastatic gestational trophoblastic tumour. Pregnancy during this period of surveillance interferes with the sequential monitoring of abnormal trophoblastic activity by serum beta-human chorionic gonadotrophin levels and relapses become difficult to detect. The effect of single agent or combination chemotherapy on the totipotent oocytes usually wavers away during the recommended period of contraception. But in cases of pregnancy during the period of surveillance certain factors have been found to be associated with increased risk of relapse and teratogenic effects of the offspring. High risk/score (according to the FIGO scoring system ) and advanced stage Gestational trophoblastic tumour (GTT), short interval between pregnancy and remission from combination chemotherapy, poor compliance during the antenatal follow-up are linked with detrimental maternal and foetal outcome. Here we report a case of successful pregnancy outcome in a patient who conceived within 3 months of remission from choriocarcinoma treated by methotrexate as evidenced by 2 consecutive negative ?-human chorionic gonadotropin (?-hCG) values. DOI: http://dx.doi.org/10.3329/bmj.v40i3.18671 Bangladesh Medical Journal 2011 Vol.40(3):29-32


Author(s):  
Catarina J. Nascimento ◽  
Mariana Veiga ◽  
Ana Rita Silva ◽  
Joana Cominho

A coexistent molar pregnancy with a normal fetus is rare, with an incidence of 1 in 22.000 to 100.000 pregnancies-only 200 cases reported in the last two decades. The ultrasound is essential for an earlier diagnosis, and the management of these cases is challenging due to the increased risk of obstetrics complications and the possibility of posterior gestational trophoblastic neoplasia. Here we describe a 33-year-old healthy woman with a first-trimester twin pregnancy, presented with a normal fetus and a heterogeneous and vacuolar structure suggestive of complete hydatidiform mole. The pregnancy was interrupted, and a histological diagnosis confirmed complete hydatidiform mole in dichorionic/diamniotic twin pregnancy at 14 weeks. Molar twin pregnancy is a rare condition, and do not exist any consensus protocol to guide the clinical approach, so the decision to continue the pregnancy depends on the couple’s desire and maternal and fetal complications.


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