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

MedGen UID:
482304
Concept ID:
C3280674
Finding
Synonyms: RPRGL3
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): ANXA5 (4q27)
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]

Clinical features

Recurrent spontaneous abortion
MedGen UID:
481069
Concept ID:
C3279439
Finding
Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference.

Recent clinical studies

Etiology

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. [Epub ahead of print] PMID: 26399758
Song G, Yan J, Li G, Chen ZJ
Reprod Biomed Online 2015 Mar;30(3):275-80. Epub 2014 Dec 16 doi: 10.1016/j.rbmo.2014.12.002. [Epub ahead of print] PMID: 25596907
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. [Epub ahead of print] PMID: 25589398
Demirturk F, Ates O, Gunal O, Bozkurt N, Aysal T, Nacar MC
Bratisl Lek Listy 2014;115(8):479-82. PMID: 25246282
Kim JJ, Choi YM, Lee SK, Yang KM, Paik EC, Jeong HJ, Jun JK, Han AR, Hong MA
Am J Reprod Immunol 2014 Dec;72(6):571-6. Epub 2014 Jul 31 doi: 10.1111/aji.12302. [Epub ahead of print] PMID: 25078885

Diagnosis

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. [Epub ahead of print] PMID: 26399758
Hu Y, Huo ZH, Liu CM, Liu SG, Zhang N, Yin KL, Qi L, Ma X, Xia HF
PLoS One 2014;9(12):e114781. Epub 2014 Dec 5 doi: 10.1371/journal.pone.0114781. PMID: 25479352Free PMC Article
Desjardins MK, Stephenson MD
Fertil Steril 2012 Apr;97(4):894-903. Epub 2012 Feb 10 doi: 10.1016/j.fertnstert.2012.01.110. [Epub ahead of print] PMID: 22325687
Hogge WA, Prosen TL, Lanasa MC, Huber HA, Reeves MF
Am J Obstet Gynecol 2007 Apr;196(4):384.e1-6; discussion 384.e6-8. doi: 10.1016/j.ajog.2006.12.012. PMID: 17403428
Sehirali S, Inal MM, Yildirim Y, Balim Z, Kosova B, Karamizrak T, Sanci M, Topcuoglu N, Tinar S
Arch Gynecol Obstet 2005 Dec;273(3):170-3. Epub 2005 Sep 28 doi: 10.1007/s00404-005-0061-7. [Epub ahead of print] PMID: 16189694

Therapy

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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 21642294
Uusküla L, Rull K, Nagirnaja L, Laan M
J Clin Endocrinol Metab 2011 Jan;96(1):E199-207. Epub 2010 Oct 20 doi: 10.1210/jc.2010-1647. [Epub ahead of print] PMID: 20962020Free PMC Article

Prognosis

Hu Y, Huo ZH, Liu CM, Liu SG, Zhang N, Yin KL, Qi L, Ma X, Xia HF
PLoS One 2014;9(12):e114781. Epub 2014 Dec 5 doi: 10.1371/journal.pone.0114781. PMID: 25479352Free PMC Article
Hayashi Y, Sasaki H, Suzuki S, Nishiyama T, Kitaori T, Mizutani E, Suzumori N, Sugiura-Ogasawara M
Fertil Steril 2013 Oct;100(4):1018-24. Epub 2013 Jul 11 doi: 10.1016/j.fertnstert.2013.06.020. [Epub ahead of print] PMID: 23850300
Palmirotta R, La Farina F, Ferroni P, Ludovici G, Nigro C, Savonarola A, Raparelli V, Riondino S, Rampini MR, Guadagni F, Basili S
Reprod Sci 2010 Jul;17(7):659-66. Epub 2010 Apr 12 doi: 10.1177/1933719110366603. [Epub ahead of print] PMID: 20388617
Hogge WA, Prosen TL, Lanasa MC, Huber HA, Reeves MF
Am J Obstet Gynecol 2007 Apr;196(4):384.e1-6; discussion 384.e6-8. doi: 10.1016/j.ajog.2006.12.012. PMID: 17403428
Gerhardt A, Scharf RE, Mikat-Drozdzynski B, Krüssel JS, Bender HG, Zotz RB
Thromb Haemost 2005 Jan;93(1):124-9. doi: 10.1160/TH04-07-0411. PMID: 15630502

Clinical prediction guides

Li X, Liu Y, Zhang R, Tan J, Chen L, Liu Y
Med Sci Monit 2015 Apr 11;21:1051-6. doi: 10.12659/MSM.892898. PMID: 25862335Free PMC Article
Song G, Yan J, Li G, Chen ZJ
Reprod Biomed Online 2015 Mar;30(3):275-80. Epub 2014 Dec 16 doi: 10.1016/j.rbmo.2014.12.002. [Epub ahead of print] PMID: 25596907
Saxena D, Misra MK, Parveen F, Phadke SR, Agrawal S
Placenta 2015 Feb;36(2):226-31. Epub 2014 Nov 25 doi: 10.1016/j.placenta.2014.11.014. [Epub ahead of print] PMID: 25499308
Sergi C, Al Jishi T, Walker M
Arch Gynecol Obstet 2015 Mar;291(3):671-9. Epub 2014 Sep 6 doi: 10.1007/s00404-014-3443-x. [Epub ahead of print] PMID: 25193429
Demirturk F, Ates O, Gunal O, Bozkurt N, Aysal T, Nacar MC
Bratisl Lek Listy 2014;115(8):479-82. PMID: 25246282

Recent systematic reviews

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. [Epub ahead of print] PMID: 26399758
Li X, Liu Y, Zhang R, Tan J, Chen L, Liu Y
Med Sci Monit 2015 Apr 11;21:1051-6. doi: 10.12659/MSM.892898. PMID: 25862335Free PMC Article
Sergi C, Al Jishi T, Walker M
Arch Gynecol Obstet 2015 Mar;291(3):671-9. Epub 2014 Sep 6 doi: 10.1007/s00404-014-3443-x. [Epub ahead of print] PMID: 25193429
Nair RR, Khanna A, Singh K
Mol Biol Rep 2014 Sep;41(9):5719-27. Epub 2014 Jun 22 doi: 10.1007/s11033-014-3443-8. [Epub ahead of print] PMID: 24952603
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. [Epub ahead of print] PMID: 23179239

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