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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.

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.

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.

Objective: Study on Y chromosomal AZF region deletions in Slovak population, application of DNA technique., Design: Genetic-prospective study., Setting: Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava., Methods: For detecting microdeletions in the Y-chromosomal AZF region in men with fertility disorders and for identifying Y-specific sequences we used the method of polymerase chain reaction (PCR) with using three different sets of sY sequences. For a verification of the specific type of deletion we used also fluorescently labeled kit., Results: Diagnoses of referred patients were divided into 2 groups: azoospermia, oligospermia. In the followed-up group of 822 patients there were 349 patients with azoospermia, 473 patients with oligospermia. Globally we reported 38 cases of deletions in the AZF region of the Y chromosome, i.e. 4.62%. 24 patients with deletion are from the group of patients with azoospermia, i.e. 6.88%, 14 patients are from the group of patients with oligospermia (2.95%). Considering particular types of deletions we recorded deletions in each region, AZFa, AZFb and AZFc, combinated AZFbc deletion, but also a complete deletion of the whole AZF region., Conclusion: The study confirmed that detection of microdeletions of the AZF region is significant from diagnostic and prognostic view and it pointed out the importance of selection criteria for selecting patients.

Objective: DNA analysis of different forms of gestational trophoblastic disease., Design: Retrospective clinical study., Setting: Slovak Center of Trophoblastic Disease, Bratislava, Slovak Republic., Methods: In the period of September 1993 to April 2003, eighty-nine cases of gestational trophoblastic disease were analysed. There were 22 cases of partial hydatidiform moles, 58 cases of complete hydatidiform mole, 5 cases of invasive mole and 4 cases of gestational choriocarcinomas. Southern hybridization and polymerase chain reaction were used for DNA analysis., Results: From 22 analyzed cases of partial hydatidiform moles 19 (86.4%) were triploid and 3 (13.6%) diploid ones. There were 58 cases of complete hydatidiform mole and out of them 29 (50%) were homozygous, 28 (48.3%) heterozygous, and in one case (1.7%) both paternal and maternal genome was detected. In 8 cases of heterozygous and in one case of homozygous complete hydatidiform mole occurred a malignant transformation to gestational choriocarcinoma., Conclusions: Molecular analysis can determine the nuclear DNA origin of complete hydatidiform mole and allow us to define the patients with higher risk of malignant transformation usually to gestational choriocarcinoma.

Objective: To evaluate subsequent pregnancy experience in patients following chemotherapy for malignant form of gestational trophoblastic disease., Design: Retrospective clinical study., Setting: Slovak Center of Trophoblastic Disease, Bratislava, Slovak Republic., Methods: There were evaluated subsequent pregnancy experiences in 38 patients after chemotherapy for malignant form of gestational trophoblastic disease registered in Slovak center of gestational trophoblastic disease. Histological and cytogenetical analysis of all placentas after deliveries and material from curettage specimens after miscarriages, abortions and ectopic pregnancies were performed., Results: 11 women conceived following successful chemotherapy of gestational trophoblastic disease became pregnant a total 19 times. Out of them there were 9 full-term deliveries, 2 spontaneous abortion, 1 ended in ectopic pregnancy and 7 pregnancies were terminated in therapeutic abortion. Cytogenetical analysis was successful in 7 to 10 reproductive losses with normal karyotype in all analysed cases., Conclusion: Patients after successful chemotherapy of gestational trophoblastic disease have a normal reproductive outcome.

The aim of our study was to confirm the diagnosis of partial hydatidiform mole (PMH) and to determine mechanism of PMH development by chromosomal DNA analysis. In our study we analysed 8 cases of morphologically and histologically confirmed PMH. Their karyotype was determined by using methods of direct, 24-hour and a long-term tissue culture. The restriction fragment length polymorphisms (RFLP) method was used for DNA analysis of PMH chorionic villi and from progenitor lymphocytes in peripheral blood. All cases were triploid. DNA analysis revealed in six cases one maternal and two paternal RFLP bands, and in two cases two maternal and one paternal RFLP bands.

In our study we analyzed 13 cases of histologically defined complete hydatidiform mole (CHM), by using cytogenetic and molecular genetic methods. There were seven homozygous and six heterozygous CHM. In one case of heterozygous CHM we found a biparental contribution to genomic DNA. This is evidence of a more heterogeneous etiopathogenesis of hydatidiform mole.