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Pregnancy loss, recurrent, susceptibility to, 3(RPRGL3)

MedGen UID:
482304
Concept ID:
C3280674
Finding
Synonym: RPRGL3
 
Gene (location): ANXA5 (4q27)
 
Monarch Initiative: MONDO:0013729
OMIM®: 614391

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
Garnier A, Dreux S, Vargas-Poussou R, Oury JF, Benachi A, Deschênes G, Muller F
Pediatr Res 2010 Mar;67(3):300-3. doi: 10.1203/PDR.0b013e3181ca038d. PMID: 19915517
Laurino MY, Bennett RL, Saraiya DS, Baumeister L, Doyle DL, Leppig K, Pettersen B, Resta R, Shields L, Uhrich S, Varga EA, Raskind WH
J Genet Couns 2005 Jun;14(3):165-81. doi: 10.1007/s10897-005-3241-5. PMID: 15959648

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
Kaur M, Kaur R, Chhabra K, Khetarpal P
Int J Gynaecol Obstet 2023 Sep;162(3):829-841. Epub 2023 Mar 1 doi: 10.1002/ijgo.14701. PMID: 36710639
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
Sugiura-Ogasawara M
Best Pract Res Clin Obstet Gynaecol 2015 May;29(4):489-97. Epub 2014 Dec 24 doi: 10.1016/j.bpobgyn.2014.12.001. PMID: 25589398

Diagnosis

Pirtea P, Cicinelli E, De Nola R, de Ziegler D, Ayoubi JM
Fertil Steril 2021 Mar;115(3):546-560. Epub 2021 Feb 11 doi: 10.1016/j.fertnstert.2020.12.010. PMID: 33581856
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
Fang X, Wang Y, Zhang Y, Li Y, Kwak-Kim J, Wu L
Front Immunol 2020;11:555826. Epub 2021 Jan 28 doi: 10.3389/fimmu.2020.555826. PMID: 33584639Free PMC Article
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

Therapy

Bamba C, Rohilla M, Kumari A, Kaur A, Srivastava P
Placenta 2024 Feb;146:79-88. Epub 2024 Jan 4 doi: 10.1016/j.placenta.2024.01.003. PMID: 38198891
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
Yazdani N, Shekari Khaniani M, Bastami M, Ghasemnejad T, Afkhami F, Mansoori Derakhshan S
Int J Immunogenet 2018 Aug;45(4):181-189. Epub 2018 May 24 doi: 10.1111/iji.12364. PMID: 29797531
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

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
Tisato V, Silva JA, Scarpellini F, Capucci R, Marci R, Gallo I, Salvatori F, D'Aversa E, Secchiero P, Serino ML, Zauli G, Singh AV, Gemmati D
Sci Rep 2024 Feb 8;14(1):3275. doi: 10.1038/s41598-024-53737-2. PMID: 38332006Free PMC Article
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
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
Kodaman PH, Arici A
Curr Opin Obstet Gynecol 2007 Jun;19(3):207-14. doi: 10.1097/GCO.0b013e32814a6473. PMID: 17495635

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
Tisato V, Silva JA, Scarpellini F, Capucci R, Marci R, Gallo I, Salvatori F, D'Aversa E, Secchiero P, Serino ML, Zauli G, Singh AV, Gemmati D
Sci Rep 2024 Feb 8;14(1):3275. doi: 10.1038/s41598-024-53737-2. PMID: 38332006Free PMC Article
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
Begum A, Mishra A, Das CR, Das S, Dutta R, Kashyap N, Bose PD, Bose S
J Reprod Immunol 2021 Nov;148:103430. Epub 2021 Sep 30 doi: 10.1016/j.jri.2021.103430. PMID: 34619412
Ahangari N, Doosti M, Mousavifar N, Attaran M, Shahrokhzadeh S, Memarpour S, Ghayoor Karimiani E
Arch Gynecol Obstet 2019 Sep;300(3):777-782. Epub 2019 Jul 17 doi: 10.1007/s00404-019-05224-7. PMID: 31317253

Recent systematic reviews

Kaur M, Kaur R, Chhabra K, Khetarpal P
Int J Gynaecol Obstet 2023 Sep;162(3):829-841. Epub 2023 Mar 1 doi: 10.1002/ijgo.14701. PMID: 36710639
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
Soleimani-Jadidi S, Abbasi H, Javaheri A, Behforouz A, Zanbagh L, Meibodi B, Hadadan A, Tabatabaei RS, Neamatzadeh H
Fetal Pediatr Pathol 2021 Oct;40(5):471-485. Epub 2020 Jan 28 doi: 10.1080/15513815.2020.1716903. PMID: 31990237
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
Su MT, Lin SH, Chen YC, Kuo PL
Thromb Haemost 2013 Jan;109(1):8-15. Epub 2012 Nov 22 doi: 10.1160/TH12-08-0584. PMID: 23179239

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