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Updated: Jun 27, 2025
11:54
Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
Published on: October 20, 2019
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Decoding the Genetics of Recurrent Molar Pregnancy
Sumita Mehta1, Sunita Bijarnia Mahay2, Abhishek Satapathy2
1Department of Obstetrics and Gynecology, Babu Jagjivan Ram Memorial Hospital, Delhi, India.
Journal of Human Reproductive Sciences
|April 26, 2024
Summary
Recurrent hydatidiform mole pregnancies are linked to NLRP7 gene mutations. Oocyte donation enabled a woman with these mutations to achieve a successful ongoing pregnancy.
Area of Science:
- Reproductive genetics
- Human embryology
- Maternal genetics
Background:
- Hydatidiform mole involves abnormal trophoblastic hyperplasia and failed embryonic development.
- Recurrent cases are associated with biallelic maternal mutations in NLRP7, KHDC3L, and PAD16 genes.
- Such mutations significantly increase reproductive failure risk, with normal pregnancy rates as low as 1.8%.
Observation:
- A 31-year-old woman experienced three prior molar pregnancies.
- Genetic testing revealed compound heterozygosity for pathogenic variants in the NLRP7 gene (c.2738A>G and c.2078G>C).
Findings:
- The patient was advised on assisted reproduction using oocyte donation for successful pregnancy.
- The patient is currently experiencing a successful 5-month ongoing pregnancy via oocyte donation.
Implications:
- Oocyte donation offers a viable pathway for women with NLRP7 mutations to achieve normal pregnancy.
- This case highlights the importance of genetic testing in recurrent hydatidiform mole cases.
- Understanding genetic factors in hydatidiform mole can guide reproductive strategies and improve outcomes.
Keywords:
Familial recurrent hydatidiform moleNLRP7genomic imprintinghydatidiform molerecurrent molartrophoblastic diseasesMore Related Videos
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