OBJECTIVE: To determine the profile of women undergoing uterine evacuation for suspected hydatidiform mole (HM) according to their clinical, laboratory, ultrasound, and anatomopathological characteristics at two referral centers in Northeastern Brazil. METHODS: Retrospective cohort study was performed in two referral centers between October 2016 and December 2022 with women undergoing uterine evacuation for suspected HM. Socio-demographic characteristics, clinics, biochemistry, ultrasound, anatomopathology, and outcome were evaluated. RESULTS: A total of 507 women were admitted with clinical suspicion of gestational trophoblastic disease, of which 334 were confirmed, with 107 being in Center-1 and 227 being in Center-2. Mean distance between the referral center and the patient's home was 88 km. Mean age of the women was 27 ± 9 years, with a predominance of 19 to 39 years (72%), and approximately 60% of the cases were diagnosed ≤ 12 weeks of gestation. Vaginal bleeding was observed in 79% of women. Transvaginal ultrasound showed a typical appearance in 90% of the examinations. The macroscopic aspect was described as a vesicle in 70% of cases. Uterine evacuation was mainly performed by uterine curettage (43%). The majority of women had no complications (69%). The outcome considered to be remission was achieved in 37.1% of cases, but 38.9% abandoned follow-up, and 9% did not start follow-up after hospital discharge. CONCLUSION: The distance traveled by women to the referral centers was significant, but the majority of women had no complications. Remission was observed in 37.1% of women, but there was a high abandonment rate of 38.9%.

• Klíčová slova
• anatomopathology, clinics, hydatidiform mole, outcomes, results, ultrasound,
• MeSH
• dospělí MeSH
• lidé MeSH
• mladý dospělý MeSH
• mola hydatidosa * patologie   epidemiologie   diagnostické zobrazování   chirurgie   diagnóza   MeSH
• nádory dělohy * patologie   epidemiologie   diagnostické zobrazování   chirurgie   diagnóza   MeSH
• retrospektivní studie MeSH
• těhotenství MeSH
• ultrasonografie MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladý dospělý MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Brazílie epidemiologie   MeSH

The authors present a case of 1st trimester miscarriage where an early, complete hydatidiform mole was clinically suspected. Histopathological and immunohistochemical analyses excluded a complete mole, but the histomorphological profile was in concordance with a partial hydatidiform mole. Genetic analysis excluded a partial mole based on biparental genome composition, where further genetic analyses detected trisomy of chromosome 16. Trisomy of chromosome 16 is a frequent cause of 1st trimester abortions and may lead to highly abnormal placental histomorphology mimicking a partial mole. Genetic analyses are crucial for proper differential diagnosis and for the determination of adequate follow-up and prognosis for further pregnancies.

• Klíčová slova
• Aneuploidy, DNA analysis, placental histomorphology, trisomy 16,
• MeSH
• diferenciální diagnóza MeSH
• dospělí MeSH
• lidé MeSH
• lidské chromozomy, pár 16 * genetika   MeSH
• mola hydatidosa * genetika   diagnóza   patologie   MeSH
• mozaicismus MeSH
• nádory dělohy * genetika   diagnóza   patologie   MeSH
• první trimestr těhotenství MeSH
• samovolný potrat genetika   diagnóza   MeSH
• těhotenství MeSH
• trizomie * diagnóza   genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

A case of double trisomy 16 and 22 in the second pregnancy loss is presented. DNA analyses (short tandem repeats genotyping) of miscarriage specimen was indicated because of ultrasound suspicion of partial hydatidiform mole. After the partial hydatidiform mole exclusion, further DNA analyses focused on the most common aneuploidies causing pregnancy loss, detected double trisomy 16 and 22 in the product of conception. The couple was referred to clinical genetic consultation and normal parental karyotypes were proved. For further explanatory purposes, archived material from the first pregnancy loss was analyzed and trisomy of chromosome 18 was detected. By comparison of allelic profiles of the mother, father, and both losses, the maternal origin of all aneuploidies was proven what can be attributed to frequent meiosis errors, probably due to advanced maternal age (44 years at the first loss and 45 years at the second loss). In conclusion, aneuploidies can mimic partial hydatidiform mole. Genetic analysis is helpful on the one hand to rule out partial hydatidiform mole and on the other hand to identify aneuploidies and in this way to determine the cause of miscarriage.

• MeSH
• DNA MeSH
• dospělí MeSH
• lidé MeSH
• lidské chromozomy, pár 16 MeSH
• mola hydatidosa * diagnóza   genetika   MeSH
• mozaicismus MeSH
• nádory dělohy * diagnóza   genetika   MeSH
• samovolný potrat * diagnóza   genetika   MeSH
• těhotenství MeSH
• trizomie diagnóza   genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• DNA MeSH

Complete and partial hydatidiform moles are abnormal products of conception that can be identified by clinical, ultrasonographic, morphologic, histologic, and genetic methods. The diagnosis is usually confirmed only by histological examination. However, accurate diagnosis based on morphological criteria is difficult and some studies have shown that misclassifications are common, even when analysed by highly experienced pathologists. Misdiagnosis may mean that women are either not included in adequate β-hCG follow-up with the risk that the hydatidiform mole progresses to choriocarcinoma or, conversely, are included in follow-up unnecessarily. A reliable complementary method to pathological interpretation may be genetic analysis of the conceptus to eliminate the diagnostic dilemma by distinguishing non-molar spontaneous abortions from hydatidiform moles and defining the type of hydatidiform mole. The aim of our short paper is to introduce the routine molecular analysis used in our laboratory to a wider range of clinical pathologists.

• Klíčová slova
• Aneuploidy, STR, hydatidiform mole, molecular genetic analysis,
• MeSH
• diferenciální diagnóza MeSH
• lidé MeSH
• mola hydatidosa * diagnóza   genetika   patologie   MeSH
• nádory dělohy * diagnóza   genetika   MeSH
• samovolný potrat * diagnóza   genetika   patologie   MeSH
• těhotenství MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Hydatidiform mole is the most common form of gestational trophoblastic disease. It is an abnormally formed placental tissue with characteristic changes in karyotype, arising in fertilization disorders. The presence of abundant paternal genetic information plays a key role in the pathogenesis of complete and partial hydatidiform moles. These lesions are characterized by a relatively wide spectrum of morphological changes that may not be fully expressed, especially in the early stages of pregnancy. In addition, some changes can be observed in non-molar gravidities, which, unlike hydatidiform moles, lack any risk of malignant transformation. Although conventional histological examination still plays a key role in the diagnosis, it should be supplemented by other methods that reliably differentiate individual lesions. Accurate diagnosis of molar gravidities is important not only for determining the correct therapeutic approach, but the obtained data may also contribute to further research of these pathological entities.

• Klíčová slova
• CHM, Genomic imprinting, PHM, Triploidy, gestational trophoblastic disease, hydatidiform mole, molecular genetic testing, p57,
• MeSH
• diferenciální diagnóza MeSH
• lidé MeSH
• mola hydatidosa * diagnóza   genetika   patologie   MeSH
• nádory dělohy * diagnóza   genetika   MeSH
• placenta patologie   MeSH
• těhotenství MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

The authors present a case of a partial hydatidiform mole where DNA analysis (STR - short tandem repeat genotyping) showed a triandric monogynic tetraploid genome composition with a XXXY gonosomal complement. This genetic finding clinicopathologically correlates with a partial hydatidiform mole, although it is rare in comparison with the typical, diandric monogynic triploid partial moles. The genetic analysis definitively confirmed the suspected diagnosis of a partial mole. To exclude the possibility that molar pregnancy represented retained products of conception after elective pregnancy termination, STR profiles from molar pregnancy and previous products of conception were compared. Short tandem repeats genotyping is a useful molecular genetic method in the differential diagnosis of partial hydatidiform moles, where clinical-pathological findings are frequently ambiguous.

• Klíčová slova
• DNA analysis, Tetraploidy, partial hydatidiform mole, retained product of conception, short tandem repeat genotyping,
• MeSH
• DNA MeSH
• fertilizace MeSH
• lidé MeSH
• mola hydatidosa * diagnóza   genetika   patologie   MeSH
• nádory dělohy * diagnóza   genetika   patologie   MeSH
• těhotenství MeSH
• tetraploidie MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• DNA MeSH

OBJECTIVE: The aim of the study was the genetic characterization of a set of cases with an unclear morphological profile of the placental tissue suspected of a partial hydatidiform mole. PATIENTS AND METHODS: This work presents the results of a genetic analysis of a group of 10 patients with various clinical manifestations of reproductive loss, where a partial hydatidiform mole was suspected on the basis of a histopathological examination. The composition of the genome of the products of conception was determined by short tandem repeats (STR) genotyping using a commercial kit;Devyser Compact v3 (Devyser). RESULTS AND CONCLUSIONS: Out of 10 analyzed cases, five had diandric monogynic triploid genome, characteristic for a partial mole. Aneuploidies of chromosomes 13, 18, 21, X and Y were excluded in four cases and Pataus syndrome was dia-gnosed in one case. In the case of an unclear histopathological profile, consultative DNA analysis (ideally STR genotyping) can significantly help the pathologist in the differential dia-gnosis of a partial mole. The histopathological profile of a partial hydatidiform mole may be in some cases incomplete and unclear, especially in the early weeks of gestation, which can lead to false negativity of the examination. On the other hand, other pathologies, for example aneuploides or digynic triploidy, may produce a histopathological profile similar to a partial mole, which leads to false positivity. Accurate dia-gnosis of a partial hydatidiform mole using molecular genetic methods contributes to the determination of adequate dispensary care for patients.

• Klíčová slova
• Alleles, genotyping techniques, hydatidiform mole, microsatellite repeats,
• MeSH
• aneuploidie MeSH
• lidé MeSH
• mikrosatelitní repetice MeSH
• mola hydatidosa * diagnóza   genetika   MeSH
• nádory dělohy * diagnóza   genetika   MeSH
• placenta MeSH
• těhotenství MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Placental mesenchymal dysplasia is a rare placental lesion characterized by placentomegaly, vascular abnormalities and formation of cystic structures in the placental parenchyma. It can be associated with various genetic abnormalities, fetal growth restriction or intrauterine fetal demise. Placental mesenchymal dysplasia needs to be distinguished from its main differential diagnosis, partial hydatidiform mole. The aim of this article is to provide readers with a basic overview of the morphology and differential diagnosis of this pathological entity.

• Klíčová slova
• PMD, Placenta, cystic lesions, differential diagnosis, placenta, placental mesenchymal dysplasia,
• MeSH
• diferenciální diagnóza MeSH
• lidé MeSH
• mola hydatidosa * diagnóza   MeSH
• nádory dělohy * diagnóza   MeSH
• nemoci placenty * diagnóza   MeSH
• placenta diagnostické zobrazování   MeSH
• růstová retardace plodu diagnostické zobrazování   MeSH
• těhotenství MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

OBJECTIVE: To summarize the possibilities of the genetic analysis of hydatidiform moles and point out its perspectives in the diagnostics of this disease. DESIGN: Review. SETTING: Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava, Slovak Republic. METHODS: Analysis of published literature data from the internet databases PubMed, ScienceDirect, Scopus and printed literature from the period 1963-2019. RESULTS: This review refers on karyotyping, flow cytometry, FISH (Fluorescent in Situ Hybridization), VNTR-RFLP analysis (Variable Number of Tandem Repeats-Restriction Fragment Length Polymorphism), VNTR-PCR analysis (Variable Number of Tandem Repeats-Polymerase Chain Reaction) and STR (Short Tandem Repeat) genotyping of hydatidiform moles. The article summarizes possible application of these methods in the differential diagnostics of molar pregnancy (partial and complete hydatidiform moles) and nonmolar hydropic abortions. CONCLUSION: Genetic analyses offer precise identification of types of molar pregnancies when histopathological diagnosis is not clear during early stages of pathology.

• Klíčová slova
• DNA diagnostics, gestational trophoblastic disease, hydatidiform moles,
• MeSH
• hybridizace in situ fluorescenční MeSH
• lidé MeSH
• mola hydatidosa * diagnóza   genetika   MeSH
• nádory dělohy * diagnóza   genetika   MeSH
• samovolný potrat * MeSH
• těhotenství MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• Geografické názvy
• Slovenská republika MeSH

Nowadays valid classification of gestational trophoblastic disease, according to the World Health Organisation from the year 2003, divides gestational trophoblastic disease into three groups - molar pregnancies, non-neoplastic non-molar changes of trophoblast and tumours of trophoblast. To the molar pregnancies belong complete, partial, invasive and metastatic hydatidiform mole. In the differential diagnosis it is important to distinguish the complete hydatidiform mole from other forms of gestational trophoblastic disease, because there is an increased risk of malignant transformation of trophoblast cells in complete hydatidiform mole. 10 cases of genetically confirmed diploid complete mole and 10 cases of genetically confirmed triploid partial mole were included into our retrospective study. All cases were examined microscopically in the basic haematoxillin and eosin staining and immunohistochemically with the use of antibodies against human choriogonadotropin hormone, placental alkaline phosfatase and protein p57. Villous cytotrophoblast, stromal villous cells, extravillous trophoblast and decidual cells were p57 positive in all cases of partial hydatidiform mole. All 10 cases of complete hydatidiform mole were p57 negative in stromal villous cells and villous cytotrophoblast. P57 protein is a marker distinguishing complete hydatidiform moles from partial moles.

• MeSH
• diferenciální diagnóza MeSH
• DNA nádorová analýza   MeSH
• imunohistochemie MeSH
• inhibitor p57 cyklin-dependentní kinasy analýza   MeSH
• lidé MeSH
• mola hydatidosa diagnóza   genetika   patologie   MeSH
• nádory dělohy diagnóza   genetika   patologie   MeSH
• placenta metabolismus   MeSH
• těhotenství MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• Názvy látek
• CDKN1C protein, human MeSH Prohlížeč
• DNA nádorová MeSH
• inhibitor p57 cyklin-dependentní kinasy MeSH