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Importance of the genetics in the diagnostics of hydatidiform mole


Authors: Lajos Gergely 1 ;  H. Gbelcová 1;  Vanda Repiská 1 ;  Ľudovít Danihel 2;  M. Korbeľ 3;  Petra Priščáková 1
Authors‘ workplace: Ústav lekárskej biológie, genetiky a klinickej genetiky, Lekárska fakulta UK a UNB, Bratislava, prednosta, doc. MUDr. D. Böhmer, PhD. 1;  Ústav patologickej anatómie, Lekárska fakulta UK a UNB Bratislava, prednosta prof. MUDr. Ľ. Danihel, PhD. 2;  I. gynekologicko-pôrodnícka klinika, Lekárska fakulta UK a UNB, Bratislava, prednosta prof. MUDr., M. Borovský, CSc. 3
Published in: Ceska Gynekol 2020; 85(4): 275-281
Category:

Overview

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.

Keywords:

gestational trophoblastic disease – hydatidiform moles – DNA diagnostics


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Labels
Paediatric gynaecology Gynaecology and obstetrics Reproduction medicine
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