ArticleJournal of assisted reproduction and genetics2020
Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies.
Article in Journal of assisted reproduction and genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 20 citations in OpenAlex.
- Effect of Intracytoplasmic Sperm Injection Alone versus ICSI and Preimplantation Genetic Screening on Pregnancy Outcomes of Patients with A History of Gestational Trophoblastic Disease: A Retrospective Study.International journal of fertility & sterility · 2026Article
- Review
- The retrospective data analysis of NLRP7 and KHDC3L mutations in Turkish patients with recurrent hydatidiform mole.Turkish journal of obstetrics and gynecology · 2025Article
- Demographics, risk factors associated with malignant progression, and pregnancy outcomes of hydatidiform mole: A retrospective cohort study in Shanghai, China.Frontiers in oncology · 2025Article
- Review
- Recurrent Hydatidiform Moles: A Clinical Challenge-A Case Report and an Update on Management and Therapeutical Strategies.Case reports in obstetrics and gynecology · 2023Article
- Maternal effect genes: Update and review of evidence for a link with birth defects.HGG advances · 2022Review
- High-Risk Gestational Trophoblastic Neoplasia from a Homozygous NLRP7 Mutation.Gynecologic oncology reports · 2021Article
- Decoding the Genetics of Recurrent Molar Pregnancy.Journal of human reproductive sciencesArticle
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Authors and funding
13 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Molar pregnancies are benign trophoblastic diseases associated with a risk of malignant transformation. If aetiology remains mostly unknown, the risk of recurrent molar pregnancy is around 1.5% after one molar pregnancy and around 25% after 2 molar pregnancies. In the later situation, genetic mutations have been described, increasing hugely this risk. In case of mutations, probability to obtain a normal pregnancy is estimated around 1.8%. We report the case of a Caucasian 30-year-old woman whose previous five spontaneous pregnancies had a negative outcome: a spontaneous miscarriage and then 4 complete hydatidiform moles. Genetic testing revealed that the patient carried two heterozygous mutations in the NLRP7 gene (c.2982-2A > G and Y318CfsX7). According to this, counselling was conducted to advocate for oocyte donation in order to obtain a normal pregnancy. This technique enabled a complication-free, singleton pregnancy that resulted in a healthy term live birth of a 2900 g female. Few months after delivery, the patient presented a new complete hydatidiform mole. Women presented with mutations in the NLRP7, KHDC3L or PADI6 genes are unlikely to obtain normal pregnancies, with a major risk of reproductive failure. In such a context, oocyte donation may be the best option. Only 4 normal pregnancies and deliveries have been published in this situation through this technique to our knowledge.
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