Cases reported "Uterine Neoplasms"

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1/11. Delivery of a severely anaemic fetus after partial molar pregnancy: clinical and ultrasonographic findings.

    The incidence of a normal live fetus and a partial molar placenta is extremely rare. Although triploidy is the most frequent association, a fetus with normal karyotype can survive in cases of partial molar pregnancy. We report a case of partial molar placenta in which a live female baby was delivered at 32 weeks gestation by a 30-year-old woman. At the 18th week, ultrasonographic examination revealed a normal fetus with a huge, multicystic placenta. Chromosomal evaluation by amniocentesis revealed a normal female karyotype (46,XX), and serial biometric measurement of the fetus showed normal growth during pregnancy. There were no obstetric complications until the 32nd gestational week when preterm rupture of the membranes occurred. The electronic fetal heart beat tracing showed a repeated sinusoid pattern and late deceleration after admission. The patient underwent emergency Caesarean section and delivered a 1551-g, anaemic female baby with an apgar score of 1, 4 and 6 at 1, 5 and 10 min, respectively. The baby recovered within 2 weeks after respiratory support and transfusion of packed red blood cells. Although anaemia is one of the risk factors that jeopardize the fetus in the case of partial molar pregnancy, termination is not indicated when the fetus is normal and no complications have occurred.
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ranking = 1
keywords = triploidy
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2/11. Partial mole, triploidy and proteinuric hypertension: two case reports.

    We present two cases of proteinuric hypertension in the early second trimester of pregnancy, associated with partial mole and triploidy karyotyping. This demonstrates the complementary nature of ultrasound in the diagnosis and management of this rare association.
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ranking = 5
keywords = triploidy
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3/11. A case of partial mole and atypical type I triploidy associated with severe hellp syndrome at 18 weeks' gestation.

    Partial mole is a rare complication of pregnancy and 90% of cases are associated with triploidy. hellp syndrome is also a rare and life-threatening condition that occurs after 20 weeks' gestation. We report a case presenting with a combination of severe hellp syndrome, partial mole, triploidy type I and fetal growth restriction at 18 weeks' gestation. Partial mole and any type of triploidy must be considered in cases of hydrocephalus and severe growth restriction in the second trimester of pregnancy. Our case highlights the fact that growth restriction can be associated with type I triploidy and that severe hellp syndrome can develop in such cases even before 20 weeks' gestation.
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ranking = 8
keywords = triploidy
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4/11. chromosome aberrations in uterine smooth muscle tumors: potential diagnostic relevance of cytogenetic instability.

    Cytogenetic studies were carried out on a low-grade metastatic uterine leiomyosarcoma and on a large degenerating uterine leiomyoma. The leiomyosarcoma and leiomyoma were hyperdiploid and hypodiploid, respectively, and both tumors contained multiple consistent chromosome aberrations. In the patient with leiomyosarcoma, flow cytometric studies of proliferative foci from a previously resected uterine leiomyoma revealed near triploidy, suggesting that the leiomyosarcoma was metastatic from an unrecognized malignant uterine primary lesion. The leiomyosarcoma was characterized by extreme cytogenetic instability, whereas the leiomyoma demonstrated cytogenetic stability. The present cases and review of the literature on leiomyosarcomas and leiomyomas reveal cytogenetic instability to be very common in leiomyosarcomas (present in 8 of 10 cases) and uncommon in leiomyomas (present in 1 of 25 cases). A grading system is described which might be useful in evaluating the diagnostic and prognostic relevance of cytogenetic instability in uterine, and other, malignancies.
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ranking = 1
keywords = triploidy
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5/11. First trimester diagnosis of a partial mole with the combined use of ultrasound and chorionic villous sampling.

    A patient with vaginal bleeding in the first trimester of pregnancy had a serum human chorionic gonadotropin (hCG) titer of 495,132 mlU/ml and an abdominal ultrasound examination revealed an intrauterine gestational sac without a fetal pole. Two and a half weeks later the hCG titer was 385,000 mlU/ml and a fetal pole was visualized. Transabdominal villous sampling was performed because of the suspicion of a partial mole. Histopathologic examination showed hydropic villi and chromosomal studies were consistent with triploidy. The diagnosis of partial mole in the first trimester of pregnancy was made and the pregnancy terminated.
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ranking = 1
keywords = triploidy
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6/11. Sonographic diagnosis of a pregnancy with a diffuse hydatidiform mole and coexistent 46,XX fetus: a case report.

    Placental molar change with a coexistent live fetus is an unusual entity, particularly when diagnosed in the second trimester of pregnancy. In this case report, the sonographic findings of an abnormally enlarged, diffuse molar placenta with a normal living fetus in the second trimester prompted karyotype analysis. Although triploidy was anticipated, a normal 46,XX chromosomal complement was identified. Histopathology of the placenta after delivery confirmed the rare syndrome of diploid partial mole. Antenatal management of this unusual pregnancy complication is addressed.
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ranking = 1
keywords = triploidy
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7/11. hydatidiform mole coexisting with a live fetus: a dilemma of management. A recent review (1965-1985) and report of 2 new cases.

    A review of 24 patients with a molar placenta and coexisting live fetus, including 2 new cases from the queensland Trophoblastic Disease Registry, was made. The rate of fetal abnormalities was 33%; all 8 abnormal fetuses were female and in 5 of them in whom cultures were performed the chromosomal karyotype was triploidy 69XXX. There were 3 patients in whom malignant sequelae were detected (12%). After a confident ultrasound diagnosis of a molar placenta and a coexisting live fetus, the decision on whether the pregnancy should be terminated or allowed to continue should be based on the likelihood of the fetus being abnormal. It is recommended that the chromosomal karyotype and amniotic fluid alpha-fetoprotein level be determined by amniocentesis at about 16-18 weeks. This should allow those pregnancies in whom the fetus is potentially normal to be selected for conservative management.
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ranking = 1
keywords = triploidy
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8/11. Triploid partial molar pregnancy detected through maternal serum alpha-fetoprotein and HCG screening.

    BACKGROUND: Screening for down syndrome using maternal serum alpha-fetoprotein (MSAFP) and hCG, with or without unconjugated estriol (E3), has become standard practice in much of the united states. When both MSAFP and hCG are elevated, the possibility of a partial molar pregnancy with fetal neural tube or abdominal-wall defect should be added to the differential diagnosis, as illustrated by this case. CASE: A 22-year-old woman had elevated MSAFP and hCG levels on routine screening at 16 weeks' gestation. Ultrasound examination suggested a neural tube defect and a thickened placenta. amniocentesis was performed. She very rapidly developed preeclampsia. fluorescence in situ hybridization showed three distinct spots for the three probes tested. A triploid karyotype was confirmed with standard cytogenetic analysis. The fetus had an open neural tube defect, and placental pathology was consistent with a partial hydatidiform mole. CONCLUSIONS: A possible partial molar pregnancy with abdominal-wall or open neural tube defect should be added to the differential diagnosis for interpreting down syndrome screens when both MSAFP and hCG are elevated. A presumptive diagnosis of triploidy using fluorescence in situ hybridization was important in the management of this pregnancy.
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ranking = 1
keywords = triploidy
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9/11. Triploid abortus presenting as an ectopic pregnancy.

    In this article we present a case of an ectopic gestation having morphologic features of a partial hydatidiform mole and demonstrating triploidy by flow cytometry in a patient presenting at 9 weeks' gestation. We include brief comments on partial hydatidiform mole.
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ranking = 1
keywords = triploidy
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10/11. Partial mole and triploidy: screening patients with first-trimester spontaneous abortion.

    OBJECTIVE: To evaluate the role of histopathology in the categorization of women at risk of trophoblastic disease after early pregnancy failure associated with triploidy. METHOD: A retrospective study of histopathologic findings on 587 first-trimester spontaneous abortions for which both histologic and karyotype results were available. The incidence of chromosomal abnormalities and placental molar changes and the proportion of agreement for histologic diagnosis of triploidy were calculated. RESULTS: An abnormal chromosome complement was found in 241 (41.1%) cases, including 75 (31.1%) with trisomy, 71 (29.5%) with triploidy, 60 (24.9%) with monosomy X, and 35 with other abnormalities. molar transformations were found macroscopically in 20 triploidies, in six spontaneous abortions with a normal karyotype, in one trisomy, in one monosomy X, and in one tetraploidy. There was one complete hydatidiform mole. Complete agreement between two investigators was seen in 48 (67.6%) triploidy cases. Inter- and intra-observer degree of agreement for histologic diagnosis of triploidy was good to excellent. The sensitivity of histology ranged between 87.3 and 94.4%, the specificity between 81.7 and 85.9%, the positive predictive value between 83.1 and 86.1%, and the negative predictive value between 86.8 and 93.8%. CONCLUSION: triploidy is associated with molar changes less often in the first trimester of pregnancy than in the second or third trimester. Therefore, most triploid spontaneous abortions escape detection on the basis of ultrasound or macroscopic examination. The use of standardized criteria for detection by microscopic examination is both accurate and reproducible and should play a pivotal role in screening for women at risk of persistent gestational trophoblastic disease.
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ranking = 9
keywords = triploidy
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