{"title":"解码复发性臼齿妊娠的遗传学。","authors":"Sumita Mehta, Sunita Bijarnia Mahay, Abhishek Satapathy, Kiran Arora","doi":"10.4103/jhrs.jhrs_121_23","DOIUrl":null,"url":null,"abstract":"<p><p>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 <i>NLRP7</i>, <i>KHDC3 L</i> and <i>PAD16</i> 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 <i>NLRP7</i> 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.</p>","PeriodicalId":15975,"journal":{"name":"Journal of Human Reproductive Sciences","volume":"17 1","pages":"61-64"},"PeriodicalIF":0.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11041314/pdf/","citationCount":"0","resultStr":"{\"title\":\"Decoding the Genetics of Recurrent Molar Pregnancy.\",\"authors\":\"Sumita Mehta, Sunita Bijarnia Mahay, Abhishek Satapathy, Kiran Arora\",\"doi\":\"10.4103/jhrs.jhrs_121_23\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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 <i>NLRP7</i>, <i>KHDC3 L</i> and <i>PAD16</i> 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 <i>NLRP7</i> 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.</p>\",\"PeriodicalId\":15975,\"journal\":{\"name\":\"Journal of Human Reproductive Sciences\",\"volume\":\"17 1\",\"pages\":\"61-64\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11041314/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Human Reproductive Sciences\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/jhrs.jhrs_121_23\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/3/28 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Human Reproductive Sciences","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/jhrs.jhrs_121_23","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/3/28 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}
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 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.
期刊介绍：
The Journal of Human Reproductive Sciences (JHRS) (ISSN:0974-1208) a Quarterly peer-reviewed international journal is being launched in January 2008 under the auspices of Indian Society of Assisted Reproduction. The journal will cover all aspects human reproduction including Andrology, Assisted conception, Endocrinology, Physiology and Pathology, Implantation, Preimplantation Diagnosis, Preimplantation Genetic Diagnosis, Embryology as well as Ethical, Legal and Social issues. The journal will publish peer-reviewed original research papers, case reports, systematic reviews, meta-analysis, and debates.
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