Gestational trophoblastic disease is an abnormal proliferation of trophoblastic tissue during pregnancy. It occurs in women of childbearing age, although a few cases have also been observed in post-menopausal women, a...Gestational trophoblastic disease is an abnormal proliferation of trophoblastic tissue during pregnancy. It occurs in women of childbearing age, although a few cases have also been observed in post-menopausal women, although it is extremely rare in the latter. Here we describe a rare case of complete hydatidiform mole in a 56-year-old female patient who presented with genital bleeding combined with nausea and vomiting and a gravid uterus 16 cm in height. The ultrasound findings and the increase in serum β-HCG to 182566.00 mIU/ml suggested a diagnosis of complete hydatidiform mole. Given the post-menopausal state and the future risk of post-molar gestational trophoblastic neoplasia, we opted for total hysterectomy without preservation of the adnexa via a transabdominal approach, followed by antimitotic treatment with methotrexate. The uterus measured 18.45 cm × 11.18 cm with intra cavitary vesicles. Microscopic examination showed chorionic villi of variable size and shape, most of which were dilated and oedematous, associated with trophoblastic cell proliferation and haemorrhage suggestive of complete benign hydatidiform mole. Follow-up showed a consistent decrease in serum β-HCG levels and no evidence of residual disease. A suspicion of gestational trophoblastic disease should be borne in mind when evaluating a patient with peri- or post-menopausal bleeding to avoid delay in diagnosis and treatment.展开更多
A complete hydatidiform mole coexisting with a fetus following in vitro fertilization and embryo transfer (IVF-ET) is a rare event. The diagnosis is often not easy because of the morphological similarity to a partial ...A complete hydatidiform mole coexisting with a fetus following in vitro fertilization and embryo transfer (IVF-ET) is a rare event. The diagnosis is often not easy because of the morphological similarity to a partial mole, but important to the treatment. We present a recent case in which STR polymorphism analysis clearly revealed a different genetic origin for the fetal and molar parts. STR polymorphisms on 15 variable number tandem repeat loci and a gender-determination locus, which were detected by polymerase chain reaction, indicating that the cord/placenta and molar tissue were parental and androgenous, respectively. During follow-up, the patient developed persistent gestational trophoblastic tumor (GTT) which was successfully treated with chemotherapy. In this case, STR polymorphism analysis exactly diagnosed a twin pregnancy consisting of a complete hydatidiform mole and a fetus.展开更多
<strong>Objectives</strong>:<span> This retrospective study evaluated 1) benefits of single nucleotide polymorphism (SNP)-based chromosomal microarrays (CMAs) in the diagnosis of complete hydatidifor...<strong>Objectives</strong>:<span> This retrospective study evaluated 1) benefits of single nucleotide polymorphism (SNP)-based chromosomal microarrays (CMAs) in the diagnosis of complete hydatidiform mole (CHM) and partial HM (PHM) in products of conception (POC) and amniotic fluid (AF) specimens, and 2) frequency of whole-genome uniparental disomy (wgUPD) and triploidy in POC and AF specimens received at a US national reference laboratory.</span><span "=""> </span><b><span>Methods:</span></b><span> We reviewed consecutive 2138 POC and 3230 AF specimens and identified the cases with wgUPD and triploidy which are associated with molar pregnancy.</span><span "=""> </span><b><span>Results:</span></b><span "=""><span> Of 2138 consecutive POC specimens tested, SNP-based CMA detected wgUPD in 10 (0.47%) and triploidy in 84 (3.93%). Of the 10 wgUPD cases, 9 (90%) were confirmed as CHM. Of 3230 consecutive AF specimens, the array detected wgUPD in 1 case (0.03%) and triploidy in 11 (0.34%). </span><b><span>Conclusions:</span></b><span> SNP-based microarray allows detection of wgUPD in POC and AF specimens at a US national reference laboratory. Correctly diagnosing HM and differentiating CHM from PHM </span></span><span>are</span><span> important for clinical management. The effective SNP-based CMA detection of wgUPD in CHM may enable physicians to monitor patients at risk for gestational trophoblastic disease and neoplasm.</span><span "=""> </span><span "=""><span>Conventional chromosome analysis of POC has a high </span><span>failure rate, cannot be performed on formalin-fixed paraffin embedded samples, and cannot detect wgUPD. Further</span></span><span "=""> </span><span>multi-institutional collaborative assessmen</span><span> on accuracy, cost-effectiveness, and adequate access to SNP-based CMA, may lead this testing platform to be considered as the first-tier analysis tool for POC specimens, including those showing PHM or CHM.展开更多
文摘Gestational trophoblastic disease is an abnormal proliferation of trophoblastic tissue during pregnancy. It occurs in women of childbearing age, although a few cases have also been observed in post-menopausal women, although it is extremely rare in the latter. Here we describe a rare case of complete hydatidiform mole in a 56-year-old female patient who presented with genital bleeding combined with nausea and vomiting and a gravid uterus 16 cm in height. The ultrasound findings and the increase in serum β-HCG to 182566.00 mIU/ml suggested a diagnosis of complete hydatidiform mole. Given the post-menopausal state and the future risk of post-molar gestational trophoblastic neoplasia, we opted for total hysterectomy without preservation of the adnexa via a transabdominal approach, followed by antimitotic treatment with methotrexate. The uterus measured 18.45 cm × 11.18 cm with intra cavitary vesicles. Microscopic examination showed chorionic villi of variable size and shape, most of which were dilated and oedematous, associated with trophoblastic cell proliferation and haemorrhage suggestive of complete benign hydatidiform mole. Follow-up showed a consistent decrease in serum β-HCG levels and no evidence of residual disease. A suspicion of gestational trophoblastic disease should be borne in mind when evaluating a patient with peri- or post-menopausal bleeding to avoid delay in diagnosis and treatment.
基金Supported by Production and Rresearch Projects of Guangdong Province (2007B090400140)
文摘A complete hydatidiform mole coexisting with a fetus following in vitro fertilization and embryo transfer (IVF-ET) is a rare event. The diagnosis is often not easy because of the morphological similarity to a partial mole, but important to the treatment. We present a recent case in which STR polymorphism analysis clearly revealed a different genetic origin for the fetal and molar parts. STR polymorphisms on 15 variable number tandem repeat loci and a gender-determination locus, which were detected by polymerase chain reaction, indicating that the cord/placenta and molar tissue were parental and androgenous, respectively. During follow-up, the patient developed persistent gestational trophoblastic tumor (GTT) which was successfully treated with chemotherapy. In this case, STR polymorphism analysis exactly diagnosed a twin pregnancy consisting of a complete hydatidiform mole and a fetus.
文摘<strong>Objectives</strong>:<span> This retrospective study evaluated 1) benefits of single nucleotide polymorphism (SNP)-based chromosomal microarrays (CMAs) in the diagnosis of complete hydatidiform mole (CHM) and partial HM (PHM) in products of conception (POC) and amniotic fluid (AF) specimens, and 2) frequency of whole-genome uniparental disomy (wgUPD) and triploidy in POC and AF specimens received at a US national reference laboratory.</span><span "=""> </span><b><span>Methods:</span></b><span> We reviewed consecutive 2138 POC and 3230 AF specimens and identified the cases with wgUPD and triploidy which are associated with molar pregnancy.</span><span "=""> </span><b><span>Results:</span></b><span "=""><span> Of 2138 consecutive POC specimens tested, SNP-based CMA detected wgUPD in 10 (0.47%) and triploidy in 84 (3.93%). Of the 10 wgUPD cases, 9 (90%) were confirmed as CHM. Of 3230 consecutive AF specimens, the array detected wgUPD in 1 case (0.03%) and triploidy in 11 (0.34%). </span><b><span>Conclusions:</span></b><span> SNP-based microarray allows detection of wgUPD in POC and AF specimens at a US national reference laboratory. Correctly diagnosing HM and differentiating CHM from PHM </span></span><span>are</span><span> important for clinical management. The effective SNP-based CMA detection of wgUPD in CHM may enable physicians to monitor patients at risk for gestational trophoblastic disease and neoplasm.</span><span "=""> </span><span "=""><span>Conventional chromosome analysis of POC has a high </span><span>failure rate, cannot be performed on formalin-fixed paraffin embedded samples, and cannot detect wgUPD. Further</span></span><span "=""> </span><span>multi-institutional collaborative assessmen</span><span> on accuracy, cost-effectiveness, and adequate access to SNP-based CMA, may lead this testing platform to be considered as the first-tier analysis tool for POC specimens, including those showing PHM or CHM.
文摘葡萄胎与胎儿共存(hydatidiform mole and co-existing fetus,HMCF)是产科的罕见疾病,包括完全性葡萄胎与胎儿共存(complete hydatidiform mole with co-existing fetus,CHMCF)和部分性葡萄胎与胎儿共存(partial hydatidiform mole with co-existing fetus,PHMCF)。报道1例CHMCF病例通过妊娠期连续监测甲状腺功能、人绒毛膜促性腺激素和胎儿状况妊娠至37周,剖宫产分娩一活婴。CHMCF是一种临床罕见的高风险疾病,妊娠期应联合超声、磁共振成像和染色体核型分析仔细鉴别诊断,并在有产前诊断和妇科肿瘤中心的机构严密监测妊娠、分娩及产后随访。
