Decoding the Genetics of Recurrent Molar Pregnancy
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 NLRP7, KHDC3 L and PAD16 genes. Women with such mutations have a major risk of reprod...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2024-01-01
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| Series: | Journal of Human Reproductive Sciences |
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| Online Access: | https://journals.lww.com/10.4103/jhrs.jhrs_121_23 |
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| author | Sumita Mehta Sunita Bijarnia Mahay Abhishek Satapathy Kiran Arora |
| author_facet | Sumita Mehta Sunita Bijarnia Mahay Abhishek Satapathy Kiran Arora |
| author_sort | Sumita Mehta |
| collection | DOAJ |
| description | 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 NLRP7, KHDC3 L and PAD16 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 NLRP7 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. |
| format | Article |
| id | doaj-art-e24cd8570c2047a9b467bb207e0361eb |
| institution | Kabale University |
| issn | 0974-1208 1998-4766 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Human Reproductive Sciences |
| spelling | doaj-art-e24cd8570c2047a9b467bb207e0361eb2025-02-10T09:41:30ZengWolters Kluwer Medknow PublicationsJournal of Human Reproductive Sciences0974-12081998-47662024-01-01171616410.4103/jhrs.jhrs_121_23Decoding the Genetics of Recurrent Molar PregnancySumita MehtaSunita Bijarnia MahayAbhishek SatapathyKiran AroraHydatidiform 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 NLRP7, KHDC3 L and PAD16 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 NLRP7 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.https://journals.lww.com/10.4103/jhrs.jhrs_121_23familial recurrent hydatidiform molegenomic imprintinghydatidiform molenlrp7recurrent molartrophoblastic diseases |
| spellingShingle | Sumita Mehta Sunita Bijarnia Mahay Abhishek Satapathy Kiran Arora Decoding the Genetics of Recurrent Molar Pregnancy Journal of Human Reproductive Sciences familial recurrent hydatidiform mole genomic imprinting hydatidiform mole nlrp7 recurrent molar trophoblastic diseases |
| title | Decoding the Genetics of Recurrent Molar Pregnancy |
| title_full | Decoding the Genetics of Recurrent Molar Pregnancy |
| title_fullStr | Decoding the Genetics of Recurrent Molar Pregnancy |
| title_full_unstemmed | Decoding the Genetics of Recurrent Molar Pregnancy |
| title_short | Decoding the Genetics of Recurrent Molar Pregnancy |
| title_sort | decoding the genetics of recurrent molar pregnancy |
| topic | familial recurrent hydatidiform mole genomic imprinting hydatidiform mole nlrp7 recurrent molar trophoblastic diseases |
| url | https://journals.lww.com/10.4103/jhrs.jhrs_121_23 |
| work_keys_str_mv | AT sumitamehta decodingthegeneticsofrecurrentmolarpregnancy AT sunitabijarniamahay decodingthegeneticsofrecurrentmolarpregnancy AT abhisheksatapathy decodingthegeneticsofrecurrentmolarpregnancy AT kiranarora decodingthegeneticsofrecurrentmolarpregnancy |