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Molecular Genetic study of Complete Hydatidiform Moles

J.E. Waghmare* , J.E. Waghmare* , P.S. Ambulkar** , N.M. Gangane*** , A.K. Pal****

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Indian Journal of Anatomy 5(3):p 325-328, Sept - Dec 2016. | DOI: DOI: http://dx.doi.org/10.21088/ija.2320.0022.5316.23

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Abstract

 Moles are abnormal pregnancies posing a reproductive health risk and are of two types, Complete hydatidiform moles (CHM) and partial hydatidiform moles (PHM) also commonly known as ‘gestational trophoblastic disease’. The genetic constitution of complete hydatidiform mole is either 46,XX or 46,YY (uniparental paternal isodisomy) and 46,XY (uniparental paternal heterodisomy). Till date it is considered that CHM with 46,YY are rarely reported and such with 46,YY karyotype are more neoplastic and less viable, but extensive work is needed in developing and underdeveloped countries. PHMs are generally triploid having maternal contribution also, the genetic constitution of PHM is generally 69,XXY, 69,XXX or 69,XYY. The molar pregnancies are malignant in nature and its neoplasticity is more virulent in CHM as compared to PHM. Difference in the neoplasticity of CHM and PHM is due to its genetic constitution. There are reports where ultrasonic and pathologic investigations have failed to correctly diagnose molar pregnancies in first trimester. Even, sometimes  - hCG levels, which are hallmark for diagnosis shows false negativity. Hence, for confirmation and treatment of such high risk disease genetic diagnosis is must. We conducted molecular genetic study by polymerase chain reaction (PCR) on the genetic constituents of 10 complete moles to confirm their genetic constitutions.

Keywords: Complete Hydatidiform Mole; Patial Hydatidiform Mole; Neoplasticity; Genetic Constitution.

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DOI: DOI: http://dx.doi.org/10.21088/ija.2320.0022.5316.23

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