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Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies

  • Assisted Reproduction Technologies
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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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Authors and Affiliations

  1. Centre Hospitalier Amiens Sud, Amiens Cedex 1, France

    Claire Cozette, Florence Scheffler, Melyne Lombart, Jean Gondry, Moncef Benkhalifa & Rosalie Cabry

  2. Peritox-INERIS, UMR-I 01, Joint Research Centre, Picardie University Jules Verne, Amiens, France

    Florence Scheffler, Moncef Benkhalifa & Rosalie Cabry

  3. Centre Hospitalier Lyon Sud, Lyon, France

    Jerome Massardier, Pierre-Adrien Bolze, Touria Hajri & Francois Golfier

  4. CHRU, Montpellier, France

    Isabelle Touitou & Cecile Rittore

  5. CHRU, Brest, France

    Philippe Merviel

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  1. Claire Cozette
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  2. Florence Scheffler
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  3. Melyne Lombart
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  4. Jerome Massardier
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Correspondence to Claire Cozette.

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Cozette, C., Scheffler, F., Lombart, M. et al. Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies. J Assist Reprod Genet 37, 2273–2277 (2020). https://doi.org/10.1007/s10815-020-01861-z

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  • DOI: https://doi.org/10.1007/s10815-020-01861-z

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