Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies
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ASSISTED REPRODUCTION TECHNOLOGIES
Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies Claire Cozette 1 & Florence Scheffler 1,2 & Melyne Lombart 1 & Jerome Massardier 3 & Pierre-Adrien Bolze 3 & Touria Hajri 3 & Francois Golfier 3 & Isabelle Touitou 4 & Cecile Rittore 4 & Jean Gondry 1 & Philippe Merviel 5 & Moncef Benkhalifa 1,2 & Rosalie Cabry 1,2 Received: 28 April 2020 / Accepted: 16 June 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
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. Keywords Trophoblastic disease . Recurrent hydatidiform mole . Oocyte donation . NLRP7 gene mutation
* Claire Cozette [email protected]
Cecile Rittore [email protected] Jean Gondry [email protected]
Florence Scheffler [email protected]
Philippe Merviel [email protected]
Melyne Lombart [email protected]
Moncef Benkhalifa [email protected]
Jerome Massardier [email protected]
Rosalie Cabry [email protected]
Pierre-Adrien Bolze [email protected] 1
Touria Hajri [email protected]
Centre Hospitalier Amiens Sud, Amiens Cedex 1, France
2
Francois Golfier [email protected]
Peritox-INERIS, UMR-I 01, Joint Research Centre, Picardie University Jules Verne, Amiens, France
3
Centre Hospitalier Lyon Sud, Lyon, France
4
CHRU, Montpellier, France
5
CHRU, Brest, France
Isabelle Touitou [email protected]
J Assist Reprod Genet
Introduction
the later situation, genetic mutations have been described, increasing hugely this risk.
Gestational trophoblastic d
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