REPRODUCTIVE BIOMEDICINE ONLINE | 卷:31 |
Live births in women with recurrent hydatidiform mole and two NLRP7 mutations | |
Article | |
Akoury, Elie1,2  Gupta, Neerja3  Bagga, Rashmi4  Brown, Stephen5  Dery, Christine1,2  Kabra, Madhulika3  Srinivasan, Radhika6  Slim, Rima1,2  | |
[1] McGill Univ, Ctr Hlth, Res Inst, Dept Human Genet, Montreal, PQ H4A 3J1, Canada | |
[2] McGill Univ, Ctr Hlth, Res Inst, Dept Obstet & Gynecol, Montreal, PQ H4A 3J1, Canada | |
[3] All India Inst Med Sci New Delhi AIIMS, Dept Pediat, Genet Unit, New Delhi 110029, India | |
[4] PGIMER, Dept Obstet & Gynecol, Chandigarh 160012, India | |
[5] Univ Vermont, Dept Obstet & Gynecol, Burlington, VT 05405 USA | |
[6] Post Grad Inst Med Educ & Res, Cytol & Gynecol Pathol, Chandigarh 160012, India | |
关键词: live birth; NLRP7; ovum donation; recurrent hydatidiform mole; | |
DOI : 10.1016/j.rbmo.2015.03.011 | |
来源: Elsevier | |
【 摘 要 】
Hydatidiform mole (HM) is an aberrant human pregnancy with abnormal embryonic development and excessive proliferation of the trophoblast. Recessive mutations in NLRP7 are responsible for recurrent HM (RHM). Women with recessive NLRP7 mutations fail to have normal pregnancies from spontaneous conceptions with the exception of three out of 131 reported patients. Because there is no treatment for RHM and maternal-effect genes are needed in the oocytes to sustain normal embryonic development until the activation of the embryonic genome, one patient with recessive NLRP7 mutations tried ovum donation and achieved a successful pregnancy. This study reports three additional live births from donated ova to two patients with recessive NLRP7 mutations. The occurrence of two live births from spontaneous conceptions to two other patients is also reported. The reproductive outcomes and mutations of all reported patients were reviewed and it was found that live births are associated with some missense mutations expected to have mild functional consequences on the protein. The data support a previous observation that ovum donation appears the best management option for these patients to achieve normal pregnancies and provide an explanation for the rare occurrence of live births from natural spontaneous conceptions in patients with two NLRP7 mutations. (C) 2015 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.
【 授权许可】
Free
【 预 览 】
Files | Size | Format | View |
---|---|---|---|
10_1016_j_rbmo_2015_03_011.pdf | 510KB | download |