Decoding the Genetics of Recurrent Molar Pregnancy

Overview

Journal J Hum Reprod Sci

Date 2024 Apr 26

PMID 38665615

Authors

Sumita Mehta

Sunita Bijarnia Mahay

Abhishek Satapathy

Kiran Arora

Affiliations

Soon will be listed here.

Abstract

Hydatidiform mole is a condition characterised by abnormal trophoblastic hyperplasia and failure of embryonic tissue development. The risk of recurrence is seen to be associated with biallelic maternal mutations in , and genes. Women with such mutations have a major risk of reproductive failure and normal pregnancy is seen in only 1.8%. We report the case of a 31-year-old woman with previous three molar pregnancies who on genetic testing was found to be compound heterozygous for pathogenic variants in the gene (c.2738A>G and c.2078G>C). Accordingly, the woman was counselled regarding assisted reproduction with oocyte donation for a normal pregnancy outcome. At present, the patient has an ongoing 5-month pregnancy through oocyte donation.

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