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Pregnancy loss, recurrent, susceptibility to, 2(RPRGL2)

MedGen UID:
482302
Concept ID:
C3280672
Finding
Synonym: RPRGL2
 
Gene (location): F2 (11p11.2)
 
Monarch Initiative: MONDO:0013728
OMIM®: 614390

Definition

Miscarriage, the commonest complication of pregnancy, is the spontaneous loss of a pregnancy before the fetus has reached viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks of gestation. Recurrent miscarriage, defined as 3 or more consecutive pregnancy losses, affects about 1% of couples; when defined as 2 or more losses, the scale of the problem increases to 5% of all couples trying to conceive (summary by Rai and Regan, 2006). Pregnancy losses have traditionally been designated 'spontaneous abortions' if they occur before 20 weeks' gestation and 'stillbirths' if they occur after 20 weeks. Subtypes of spontaneous abortions can be further distinguished on the basis of embryonic development and include anembryonic loss in the first 5 weeks after conception (so-called 'blighted ovum'), embryonic loss from 6 to 9 weeks' gestation, and fetal loss from 10 weeks' gestation through the remainder of the pregnancy. These distinctions are important because the causes of pregnancy loss vary over gestational ages, with anembryonic losses being more likely to be associated with chromosomal abnormalities, for example. Possible etiologies for recurrent pregnancy loss include uterine anatomic abnormalities, cytogenetic abnormalities in the parents or fetus, single gene disorders, thrombophilic conditions, and immunologic or endocrine factors as well as environmental or infectious agents (summary by Warren and Silver, 2008). [from OMIM]

Professional guidelines

PubMed

Cheloufi M, Kazhalawi A, Pinton A, Rahmati M, Chevrier L, Prat-Ellenberg L, Michel AS, Dray G, Mekinian A, Kayem G, Lédée N
Front Immunol 2021;12:656701. Epub 2021 Mar 24 doi: 10.3389/fimmu.2021.656701. PMID: 33841443Free PMC Article
Hickey SE, Curry CJ, Toriello HV
Genet Med 2013 Feb;15(2):153-6. Epub 2013 Jan 3 doi: 10.1038/gim.2012.165. PMID: 23288205
Rodríguez García JL, Khamashta MA
Rev Clin Esp (Barc) 2013 Mar;213(2):108-13. Epub 2012 Jun 4 doi: 10.1016/j.rce.2012.04.003. PMID: 22673391

Recent clinical studies

Etiology

Sonehara K, Yano Y, Naito T, Goto S, Yoshihara H, Otani T, Ozawa F, Kitaori T; Biobank Japan Project, Matsuda K, Nishiyama T, Okada Y, Sugiura-Ogasawara M
Nat Commun 2024 Jul 17;15(1):5744. doi: 10.1038/s41467-024-49993-5. PMID: 39019884Free PMC Article
Wen Y, He H, Zhao K
J Assist Reprod Genet 2023 Jul;40(7):1533-1558. Epub 2023 May 30 doi: 10.1007/s10815-023-02823-x. PMID: 37248348Free PMC Article
Bahia W, Soltani I, Haddad A, Radhouani A, Mahdhi A, Ferchichi S, Almawi WY
Reprod Sci 2021 Jan;28(1):263-270. Epub 2020 Aug 3 doi: 10.1007/s43032-020-00274-8. PMID: 32748222
Arias-Sosa LA, Acosta ID, Lucena-Quevedo E, Moreno-Ortiz H, Esteban-Pérez C, Forero-Castro M
J Assist Reprod Genet 2018 Mar;35(3):355-366. Epub 2018 Jan 9 doi: 10.1007/s10815-017-1108-y. PMID: 29313278Free PMC Article
Hickey SE, Curry CJ, Toriello HV
Genet Med 2013 Feb;15(2):153-6. Epub 2013 Jan 3 doi: 10.1038/gim.2012.165. PMID: 23288205

Diagnosis

Srivastava P, Bamba C, Chopra S, Mandal K
Biomark Med 2022 Feb;16(2):101-115. Epub 2022 Jan 14 doi: 10.2217/bmm-2021-0568. PMID: 35026953
Bahia W, Soltani I, Haddad A, Radhouani A, Mahdhi A, Ferchichi S, Almawi WY
Reprod Sci 2021 Jan;28(1):263-270. Epub 2020 Aug 3 doi: 10.1007/s43032-020-00274-8. PMID: 32748222
Xu Y, Ban Y, Ran L, Yu Y, Zhai S, Sun Z, Zhang J, Zhang M, Hong T, Liu R, Ren L, Hu L
Fertil Steril 2019 Mar;111(3):597-603. Epub 2019 Jan 16 doi: 10.1016/j.fertnstert.2018.11.011. PMID: 30660395
Chen H, Yang X, Lu M
Arch Gynecol Obstet 2016 Feb;293(2):283-90. Epub 2015 Sep 23 doi: 10.1007/s00404-015-3894-8. PMID: 26399758
Hickey SE, Curry CJ, Toriello HV
Genet Med 2013 Feb;15(2):153-6. Epub 2013 Jan 3 doi: 10.1038/gim.2012.165. PMID: 23288205

Therapy

Wen Y, He H, Zhao K
J Assist Reprod Genet 2023 Jul;40(7):1533-1558. Epub 2023 May 30 doi: 10.1007/s10815-023-02823-x. PMID: 37248348Free PMC Article
Hamedi B, Feulefack J, Khan A, Sergi C
Arch Gynecol Obstet 2020 Aug;302(2):345-354. Epub 2020 May 29 doi: 10.1007/s00404-020-05610-6. PMID: 32472185
Cao Y, Xu J, Zhang Z, Huang X, Zhang A, Wang J, Zheng Q, Fu L, Du J
Gene 2013 Feb 10;514(2):105-11. Epub 2012 Nov 29 doi: 10.1016/j.gene.2012.10.091. PMID: 23201418
Rodríguez García JL, Khamashta MA
Rev Clin Esp (Barc) 2013 Mar;213(2):108-13. Epub 2012 Jun 4 doi: 10.1016/j.rce.2012.04.003. PMID: 22673391
Su MT, Lin SH, Chen YC
Hum Reprod Update 2011 Nov-Dec;17(6):803-12. Epub 2011 Jun 3 doi: 10.1093/humupd/dmr027. PMID: 21642294

Prognosis

Sonehara K, Yano Y, Naito T, Goto S, Yoshihara H, Otani T, Ozawa F, Kitaori T; Biobank Japan Project, Matsuda K, Nishiyama T, Okada Y, Sugiura-Ogasawara M
Nat Commun 2024 Jul 17;15(1):5744. doi: 10.1038/s41467-024-49993-5. PMID: 39019884Free PMC Article
Lee JY, Moon J, Hu HJ, Ryu CS, Ko EJ, Ahn EH, Kim YR, Kim JH, Kim NK
Int J Mol Sci 2024 May 17;25(10) doi: 10.3390/ijms25105447. PMID: 38791485Free PMC Article
Younis M, Ali MAM, Ghareeb DA, Youssef R, Fathy SA
Reprod Sci 2023 Feb;30(2):656-666. Epub 2022 Aug 15 doi: 10.1007/s43032-022-01063-1. PMID: 35969362
Srivastava P, Bamba C, Chopra S, Mandal K
Biomark Med 2022 Feb;16(2):101-115. Epub 2022 Jan 14 doi: 10.2217/bmm-2021-0568. PMID: 35026953
Jairajpuri DS, Malalla ZH, Mahmood N, Khan F, Almawi WY
Gene 2021 Feb 5;768:145334. Epub 2020 Dec 2 doi: 10.1016/j.gene.2020.145334. PMID: 33278550

Clinical prediction guides

Sonehara K, Yano Y, Naito T, Goto S, Yoshihara H, Otani T, Ozawa F, Kitaori T; Biobank Japan Project, Matsuda K, Nishiyama T, Okada Y, Sugiura-Ogasawara M
Nat Commun 2024 Jul 17;15(1):5744. doi: 10.1038/s41467-024-49993-5. PMID: 39019884Free PMC Article
Wen Y, He H, Zhao K
J Assist Reprod Genet 2023 Jul;40(7):1533-1558. Epub 2023 May 30 doi: 10.1007/s10815-023-02823-x. PMID: 37248348Free PMC Article
Du B, Shi X, Yin C, Feng X
J Assist Reprod Genet 2019 Jul;36(7):1315-1328. Epub 2019 Jun 28 doi: 10.1007/s10815-019-01473-2. PMID: 31254142Free PMC Article
Boldeanu L, Siloşi CA, Pădureanu V, Dijmărescu AL, Manolea MM, Tabacu MC, Boldeanu MV, Popescu-Drigă MV, Poenariu IS, Pădureanu R, Novac LV, Novac MB
Rom J Morphol Embryol 2018;59(4):1053-1059. PMID: 30845284
Gu Y, Wang JM, Zhang ZF, Wang J, Cao YL, Pan CJ, Yin LR, Du J
Gynecol Endocrinol 2018 Apr;34(4):349-352. Epub 2017 Oct 31 doi: 10.1080/09513590.2017.1395837. PMID: 29084471

Recent systematic reviews

Wen Y, He H, Zhao K
J Assist Reprod Genet 2023 Jul;40(7):1533-1558. Epub 2023 May 30 doi: 10.1007/s10815-023-02823-x. PMID: 37248348Free PMC Article
Srivastava P, Bamba C, Chopra S, Mandal K
Biomark Med 2022 Feb;16(2):101-115. Epub 2022 Jan 14 doi: 10.2217/bmm-2021-0568. PMID: 35026953
Du B, Shi X, Yin C, Feng X
J Assist Reprod Genet 2019 Jul;36(7):1315-1328. Epub 2019 Jun 28 doi: 10.1007/s10815-019-01473-2. PMID: 31254142Free PMC Article
Sun Y, Chen M, Mao B, Cheng X, Zhang X, Xu C
Eur J Obstet Gynecol Reprod Biol 2017 Apr;211:169-176. Epub 2017 Mar 2 doi: 10.1016/j.ejogrb.2017.03.003. PMID: 28282525
Chen H, Yang X, Lu M
Arch Gynecol Obstet 2016 Feb;293(2):283-90. Epub 2015 Sep 23 doi: 10.1007/s00404-015-3894-8. PMID: 26399758

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