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Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies.
Journal of Assisted Reproduction and Genetics ( IF 3.2 ) Pub Date : 2020-06-26 , DOI: 10.1007/s10815-020-01861-z
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
Affiliation  

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.



中文翻译:

具有 NLRP7 基因突变和复发性葡萄胎妊娠的患者捐赠卵母细胞后怀孕。

磨牙妊娠是与恶性转化风险相关的良性滋养细胞疾病。如果病因仍然大部分未知,那么在一次葡萄胎妊娠后复发性葡萄胎妊娠的风险约为 1.5%,在两次葡萄胎妊娠后约为 25%。在后一种情况下,已经描述了基因突变,极大地增加了这种风险。在发生突变的情况下,获得正常怀孕的概率估计约为 1.8%。我们报告了一名 30 岁白人女性的案例,她之前 5 次自然怀孕都有负面结果:自然流产,然后是 4 颗完整的葡萄胎。基因检测显示该患者在NLRP7 中携带两个杂合突变基因(c.2982-2A > G 和 Y318CfsX7)。据此,进行了咨询,倡导捐卵,以获得正常怀孕。该技术实现了无并发症的单胎妊娠,从而使 2900 克女性健康足月活产。分娩后几个月,患者出现了新的完全性葡萄胎。出现NLRP7、KHDC3LPADI6基因突变的女性不太可能获得正常怀孕,并且存在生殖失败的主要风险。在这种情况下,捐卵可能是最好的选择。据我们所知,在这种情况下,仅通过这种技术发表了 4 例正常怀孕和分娩。

更新日期:2020-06-26
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