Authors: Lajos Gergely 1,2; Miroslav Korbeľ 2,3; Vanda Repiská 1,2; Ľudovít Danihel 2,4; J. Hutník 1; Liam McCullough 2,3; Petra Priščáková 1,2 Authors‘ workplace: Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University Bratislava, Bratislava, Slovak Republic 1; Centre for Gestational Trophoblastic Disease of Slovak Republic, Bratislava, Slovak Republic 2; 1st Department of Gynaecology and Obstetrics, Faculty of Medicine, Comenius University Bratislava, Bratislava, Slovak Republic 3; Institute of Pathological Anatomy, Faculty of Medicine, Comenius University Bratislava, Bratislava, Slovak Republic 4 Published in: Ceska Gynekol 2023; 88(6): 446-449 Category: Case Report
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.
Tetraploidy – DNA analysis – partial hydatidiform mole – short tandem repeat genotyping – retained product of conception
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