Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies
Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies
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DOI：
10.1007/s10815-020-01861-z
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发表时间：
2020-06-26
影响因子：
3.1
通讯作者：
Cabry, Rosalie
中科院分区：
文献类型：
--
作者：
Cozette, Claire;Scheffler, Florence;Cabry, Rosalie
葡萄胎妊娠是良性滋养细胞疾病，伴有恶变风险。如果病因仍不清楚，则一次葡萄胎妊娠后复发葡萄胎的风险约为 1.5%，第二次葡萄胎妊娠后复发葡萄胎的风险约为 25%。在后一种情况下，基因突变已被描述，极大地增加了这种风险。如果发生突变，正常妊娠的概率估计约为 1.8%。我们报道了一位 30 岁白人女性的案例，她之前的 5 次自然怀孕结果均呈阴性：先自然流产，然后又长出 4 颗完全性葡萄胎。基因检测显示，该患者的 NLRP7 基因携带两个杂合突变（c.2982-2A > G 和 Y318CfsX7）。据此，进行了咨询，提倡捐献卵子，以获得正常妊娠。这项技术实现了无并发症的单胎妊娠，并健康足月活产了 2900 克的雌性。分娩几个月后，患者出现了新的完全性葡萄胎。 NLRP7、KHDC3LorPADI6 基因突变的女性不太可能正常怀孕，并且存在生殖失败的重大风险。在这种情况下，卵母细胞捐赠可能是最好的选择。据我们所知，只有 4 例在这种情况下通过该技术正常怀孕和分娩的案例被发表。
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 theNLRP7gene (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 theNLRP7, KHDC3LorPADI6genes 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.