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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

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
Behforouz A, Dastgheib SA, Abbasi H, Karimi-Zarchi M, Javaheri A, Hadadan A, Tabatabaei RS, Meibodi B, Neamatzadeh H
Fetal Pediatr Pathol 2021 Oct;40(5):378-386. Epub 2020 Jan 20 doi: 10.1080/15513815.2019.1710879. PMID: 31955640
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

Yu Y, Pan J, Zhao Y, Guo X, Yu W, Zhou F, Shu J, Huang Q
J Reprod Immunol 2024 Jun;163:104220. Epub 2024 Feb 21 doi: 10.1016/j.jri.2024.104220. PMID: 38447289
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
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

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
Loizidou EM, Kucherenko A, Tatarskyy P, Chernushyn S, Livshyts G, Gulkovskyi R, Vorobiova I, Antipkin Y, Gorodna O, Kaakinen MA, Prokopenko I, Livshits L
Genes (Basel) 2021 Jan 5;12(1) doi: 10.3390/genes12010064. PMID: 33466305Free PMC Article
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
Michita RT, Zambra FMB, Fraga LR, Sanseverino MT, Schuler-Faccini L, Chies JAB, Vianna P
J Assist Reprod Genet 2019 May;36(5):995-1002. Epub 2019 Apr 2 doi: 10.1007/s10815-019-01441-w. PMID: 30937706Free PMC Article

Clinical prediction guides

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
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
Mehta P, Vishvkarma R, Singh K, Rajender S
Reprod Sci 2022 Apr;29(4):1039-1053. Epub 2021 Mar 19 doi: 10.1007/s43032-021-00530-5. PMID: 33742421
Loizidou EM, Kucherenko A, Tatarskyy P, Chernushyn S, Livshyts G, Gulkovskyi R, Vorobiova I, Antipkin Y, Gorodna O, Kaakinen MA, Prokopenko I, Livshits L
Genes (Basel) 2021 Jan 5;12(1) doi: 10.3390/genes12010064. PMID: 33466305Free 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

Recent systematic reviews

Ma Y, Ma M, Ye S, Liu Y, Zhao X, Wang Y
Immun Inflamm Dis 2023 Oct;11(10):e1057. doi: 10.1002/iid3.1057. PMID: 37904702Free 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
Jalilvand A, Yari K, Heydarpour F
Gene 2022 Nov 30;844:146804. Epub 2022 Aug 23 doi: 10.1016/j.gene.2022.146804. PMID: 35998845
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
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

Supplemental Content

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