Telomerase activity in complete hydatidiform mole.

OBJECTIVE: To investigate whether telomerase is activated in complete hydatidiform mole and whether it could predict the development of persistent gestational trophoblastic tumors (GTTs). STUDY DESIGN: For this prospective study, 21 patients with complete hydatidiform mole were recruited. Molar tissue was obtained for telomerase activity measurement using the telomeric repeat amplification protocol assay. Patients' clinical characteristics, telomerase activity and subsequent clinical outcome were analyzed. RESULTS: Telomerase activity was detected in 12 cases (57.1%) with varied intensity. Two of four patients who had telomerase activity, uterine size larger than expected and preevacuation serum beta-human chorionic gonadotropin (beta-hCG) levels > 10(6) mIU/mL developed persistent GTT. CONCLUSION: Telomerase activity is detectable in some complete hydatidiform moles and might be useful for predicting persistent GTT when combined with uterine size and preevacuation serum beta-hCG level.     

Triplet pregnancy involving complete hydatidiform mole and two fetuses: genetic analysis by deoxyribonucleic acid fingerprint.

A case of a triplet pregnancy involving a dizygous twin pregnancy and a complete hydatidiform mole after therapy with human menopausal gonadotropin and human chorionic gonadotropin is reported. Two female fetuses, two placentas in one mass with two amnions and two chorions, and a tumor mass with a grapelike appearance were spontaneously delivered at 19 weeks of gestation. The deoxyribonucleic acid fingerprints of the two placentas and tumor tissue were compared with those of the parents. The fingerprints of the placentas showed patterns different from each other; however, all their polymorphic fragments could be traced back to either the father or mother. All polymorphic fragments of the tumor tissue were inherited only from the father (androgenesis). These results indicated that this triplet pregnancy involved a dizygous twin pregnancy and a complete hydatidiform mole.     

检测微卫星序列多态性位点鉴别完全性葡萄胎的亲代来源

目的通过检测9个微卫星序列多态性位点以鉴别完全性葡萄胎的亲代来源。方法用多重PCR技术和变性聚丙烯酰胺凝胶电泳结合银染显色方法,对50例病理诊断为完全性葡萄胎患者的葡萄胎标本及夫妇外周血标本进行DNA分析。结果50例完全性葡萄胎患者中,双亲来源完全性葡萄胎7例,占14％;孤雄完全性葡萄胎43例,占86％,其中孤雄单精完全性葡萄胎35例,孤雄双精完全性葡萄胎8例。结论微卫星序列多态性位点检测是一种鉴别完全性葡萄胎亲代来源的简便、快速、可靠、高效的方法。     

Epidemiology of complete hydatidiform mole in Paraguay

The incidence of complete hydatidiform mole in Paraguay is 0.23-0.25 cases per 1,000 pregnancies. The incidence is as high at the extremes of reproductive age as at other ages. That finding is at variance with long-accepted concepts. The incidence in the 15- to 19-year age group is lower than earlier, with a greater use of contraceptives in the older group. Complete mole is a rare condition with a high incidence in certain geographical areas.     

Clinico-pathological study of the partial hydatidiform mole

We studied 302 spontaneous abortuses with no molar swelling of villi (S.Ab.) and 156 partial moles (P.M.), clinico-pathologically. The results were as follow: The estimated "in utero retention time" of the conceptus of S.Ab. and P.M. was 24.8 +/- 13.1 days (n = 63) and 45.9 +/- 10.7 days (n = 37), respectively (p less than 0.01). Among the cases with "in utero retention time" of 4 or more weeks, 9 of 35 S.Ab. and 32 of 37 P.M. showed no degenerative change of trophoblasts. IgG was localized on the cell membrane of the syncytiotrophoblasts in 19 of 63 S.Ab. and 27 of 37 P.M. (p less than 0.01). IgM was also localized on the cell membrane of syncytiotrophoblasts in 29 of 63 S.Ab and 6 of 37 P.M. (p less than 0.01). Six patients (3.85%, 6/156) with P.M. received operative procedure and/or chemotherapy after evacuation of the mole. Four had invasive mole, on had metastatic lesion in the lung and one had persistent trophoblastic disease. Four of these six patients with subsequent disease were 40 years of age or older. All patients with partial mole needed hCG assay monitoring because of the risk of abnormal sequelae.     

Role of plasma nitric oxide in complete hydatidiform mole

PURPOSE OF INVESTIGATION: This prospective study aimed to evaluate any relationship between development of complete hydatidiform mole and plasma levels of nitric oxide (a biologically active mediator derived from L-arginine), and human chorionic gonadotropin beta (beta-hCG; a metabolite involved in trophoblast production). METHODS: Levels of plasma nitric oxide and beta-hCG were measured in 38 patients with complete hydatidiform mole pregnancies, and nitric oxide levels were measured in 31 women with normal pregnancies who formed the control group. RESULTS: For patients compared with controls, mean plasma concentrations of nitric oxide were significantly higher (35.84 vs 29.54 microM; p < 0.001) and significantly associated with increased risk of hydatidiform mole (odds ratio 1.0105, 95% confidence interval 1.0034-1.0176). No significant relationship was found between plasma levels of nitric oxide and beta-hCG in the patient group. CONCLUSION: In patients with complete hydatidiform mole compared with controls, plasma nitric oxide levels were found to be significantly higher and associated with increased molar risk.     

Restriction fragment length polymorphism study of families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Taiwan

Congenital adrenal hyperplasia (CAH) is a heterogeneous group of hereditary diseases characterized by deficient adrenal cortisol synthesis. Most CAH is due to 21-hydroxylase (C21) deficiency. Genomic DNA from several families with 21-hydroxylase deficiency and normal controls was analyzed by the Southern blot hybridization technique. The restriction fragment length polymorphism (RFLP) patterns using several endonucleases, such as Taq I, Eco RI and Pvu II, at the C21 gene locus showed a very low frequency of variability in normals and most of the patients with CAH. One proband with CAH lacked the characteristic 3.7 kb Taq I fragment probed with C21 cDNA. This may be due to gene conversion and/or deletion events in the functional C21 gene locus. On the other hand, genes closely linked to the C21 locus such as C4 and HLA-DR are highly polymorphic. Using these flanking genes as probes, it is easy to perform linkage analysis and identify the inheritance trait. Prenatal diagnosis will be possible in these affected families when an additional pregnancy is expected.     

Overdiagnosis of complete and partial hydatidiform mole in tubal ectopic pregnancies.

Partial or complete hydatidiform mole (HM) affects approximately 1 in 500 to 1,000 pregnancies. Previous small series suggest that histopathologic diagnosis of HM may be difficult in tubal ectopic pregnancies. The histopathology database of a regional Trophoblastic Disease Unit was searched to identify cases with a referral diagnosis of tubal HM, and the histopathologic findings were reviewed. During the study period (1986-2004 inclusive), there were 132 cases. After central review by specialist histopathologists, the final diagnosis was ectopic partial mole in two, ectopic complete mole in five, and ectopic hydatidiform mole (not otherwise specified) in one. The final diagnosis of definite hydatidiform mole was made in eight (6%) cases, significantly less than in referred uterine curettage specimens, in which approximately 90% have a confirmatory diagnosis of HM (Z = 12.9; p < 0.0001). No cases in this series developed persistent gestational trophoblastic disease, the human chorionic gonadotropin concentration spontaneously returning to normal. Ectopic pregnancies, where managed surgically, should be submitted for histopathologic examination; however, the pathologist should be aware that the degree of extravillus trophoblastic proliferation may appear more florid compared with evacuated uterine products of conception. Molar pregnancy should only be diagnosed when strict criteria regarding morphologic abnormalities previously described in uterine evacuation material are applied.     

Molecular analysis of a gestation consisting of a complete hydatidiform mole and normal dizygotic twin.

OBJECTIVE: To identify a twin pregnancy consisting of a complete mole and coexistent fetus by means of molecular cytogenetics and DNA polymorphisms. STUDY DESIGN: Seven highly polymorphic DNA markers were used to establish the androgenetic origin of a complete hydatidiform mole that coexisted with a normal 46,XY fetus. Cytogenetic analysis of mole nuclei was performed with centromeric probes, demonstrating a 46,XX constitution. RESULTS: Molar tissue was diploid with two X chromosomes, possibly due to chromosome doubling after monospermic fertilization of an ovum with inactivated or absent nucleus. CONCLUSION: Although contamination with maternal tissue may be difficult to avoid, molecular markers provide the possibility of distinguishing between a complete hydatidiform mole and coexisting normal fetus versus a partial mole, with methods that can be performed antenatally. This distinction is important since in the first case up to 24% of fetuses described in the literature have been viable, and the risk of subsequent development of persistent trophoblastic tumor in patients with a complete mole and a coexisting fetus is considerably higher than in patients with a single, complete hydatidiform mole.     

Serial transvaginal sonography of a case of complete hydatidiform mole

Sonography has achieved a position of preeminence in the diagnostic evaluation of molar gestation. However, little information is available about the serial change of the transvaginal sonographic features of molar pregnancy. We describe a case of complete hydatidiform mole, and present serial transvaginal views taken during the early gestational period.     

寡核苷酸芯片筛查孤雄完全性葡萄胎患者的相关基因

目的在全基因组DNA水平探讨孤雄完全性葡萄胎患者的相关基因,并探索其发生的分子机制。方法短串联重复序列（STR）基因位点鉴定孤雄完全性葡萄胎的亲代来源;人基因组U133 Plus2．0寡核苷酸芯片检测孤雄完全性葡萄胎和正常早孕绒毛组织中全基因组DNA水平的差异表达基因,荧光定量RT-PCR技术验证小部分差异表达基因;对寡核苷酸芯片检测的数据进行生物信息学分析。结果11例经病理检查确诊的完全性葡萄胎患者中,其基因组DNA经STR基因位点鉴定显示,9例（82％）为父系来源,2例（18％）为双亲来源;寡核苷酸芯片检测显示,和正常早孕绒毛组织相比,孤雄完全性葡萄胎组织中表达上调基因279个,占检测基因的0．72％（279／38500）,表达下调基因1710个,占检测基因的4．44％（1710／38500）;小部分差异表达基因的荧光定量RT-PCR技术检测与寡核苷酸芯片检测结果一致;生物信息学分析显示,差异表达基因涉及多个生物学过程和通路,其中印迹基因的变化和生长激素及人胎盘生长催乳激素基因的变化尤为明显。结论孤雄完全性葡萄胎的发生、发展是涉及多基因、多途径的复杂过程,其中印迹基因和生长激素类基因表达改变起蕈要作用。     

Parental age and risk of complete and partial hydatidiform mole

The relation between age of parents and the risk of complete and partial hydatidiform mole was examined using data from a case-control study conducted in Northern Italy of 149 histologically confirmed complete moles, 45 partial moles and 306 controls subjects who delivered normal babies. Compared to women aged 21 to 35, the relative risk (RR) of complete mole was elevated for teenage women (RR = 1.9) and for those aged 36-40 (RR = 1.9) or over 40 (RR = 7.5). There was no association between women's age and partial mole. Likewise, older paternal age (greater than 45) was related with the risk of complete mole (RR = 4.9, though allowance for women's age reduced this point estimate to 2.9), but not of partial mole. The present findings indicate that there are important differences in the epidemiology of complete and partial hydatidiform mole.     

Parental age and risk of complete and partial hydatidiform mole

Summary. The relation between age of parents and the risk of complete and partial hydatidiform mole was examined using data from a casecontrol study conducted in Northern Italy of 149 histologically confirmed complete moles, 45 partial moles and 306 controls subjects who delivered normal babies. Compared to women aged 21 to 35, the relative risk (RR) of complete mole was elevated for teenage women (RR = 1·9) and for those aged 36–40 (RR = 1·9) or over 40 (RR = 7·5). There was no association between women's age and partial mole. Likewise, older paternal age (>45) was related with the risk of complete mole (RR = 4·9, though allowance for women's age reduced this point estimate to 2·9), but not of partial mole. The present findings indicate that there are important differences in the epidemiology of complete and partial hydatidiform mole.