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References

  1. Al-Khateeb G.M., Mustafa F.E., Sater M.S., Almawi W.Y.: Effect of the functional VEGFA-583C/T variant on vascular endothelial growth factor levels and the risk of recurrent spontaneous miscarriage. Fertil. Steril., 2011; 95: 2471–2473
  2. Andreasen L., Christiansen O.B., Niemann I., Bolund L., Sunde L.: NLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage. Mol. Hum. Reprod., 2013; 19: 773–781
  3. Bałajewicz-Nowak M., Pityński K., Milewicz T.: Polimorfizmy 1691 G>A (czynnik Leiden) i 1328 T>C genu V czynnika krzepnięcia a występowanie poronień nawracających. Ginekol. Pol., 2015; 86: 46–52
  4. Barlik M., Seremak-Mrozikiewicz A., Kraśnik W., Drews K.: Polimorfizmy 20210G>A i 19911A>G genu protrombiny a występowanie poronień nawracających. Ginekol. Pol., 2013; 84: 830–834
  5. Bender Atik R., Christiansen O.B., Elson J., Kolte A.M., Lewis S., Middeldorp S., Nelen W., Peramo B., Quenby S., Vermeulen N., Goddijn M.: ESHRE guideline: recurrent pregnancy loss. Hum. Reprod. Open, 2018; 2018: hoy004
  6. Celep F., Karagüzel A., Ozeren M., Bozkaya H.: The frequency of chromosomal abnormalities in patients with reproductive failure. Eur. J. Obstet. Gynecol. Reprod. Biol., 2006; 127: 106–109
  7. Cinar C., Beyazyurek C., Ekmekci C.G., Aslan C., Kahraman S.: Sperm fluorescence in situ hybridization analysis reveals normal sperm cells for 14;14 homologous male Robertsonian translocation carrier. Fertil. Steril., 2011; 95: 289.e5–e9
  8. Colley E., Hamilton S., Smith P., Morgan N.V., Coomarasamy A., Allen S.: Potential genetic causes of miscarriage in euploid pregnancies: A systematic review. Hum. Reprod. Update, 2019; 25: 452–472
  9. Diego-Alvarez D., Garcia-Hoyos M., Jose Trujillo M., Gonzalez-Gonzalez C., Rodriguez de Alba M., Ayuso C., Ramos-Corrales C., Lorda-Sanchez I.: Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages. Hum. Reprod., 2005; 20: 1235–1243
  10. Diego-Alvarez D., Rodriguez de Alba M., Cardero-Merlo R., Diaz-Recasens J., Ayuso C., Ramos C., Lorda-Sanchez I.: MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages. Prenat. Diag., 2007; 27: 765–771
  11. Dutta U.R., Rajitha P., Pidugu V.K., Dalal A.B.: Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: Report and review. J. Assist. Reprod. Genet., 2011; 28: 145–149
  12. Fallahian M., Sebire N.J., Savage P.M., Seckl M.J., Fisher R.A.: Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions. Hum. Mutat., 2013; 34: 301–308
  13. Fan H.T., Zhang M., Zhan P., Yang X., Tian W.J., Li R.W.: Structural chromosomal abnormalities in couples in cases of recurrent spontaneous abortions in Jilin Province, China. Genet. Mol. Res., 2016; 15: 1–7
  14. Flynn H., Yan J., Saravelos S.H., Li T.C.: Comparison of reproductive outcome, including the pattern of loss, between couples with chromosomal abnormalities and those with unexplained repeated miscarriages. J. Obstet. Gynaecol. Res., 2014; 40: 109–116
  15. Grady W.W., Designan J.L.: Diagnostic molecular genetics. W: Emery and Rimoin's Principles and Practice of Medical Genetics, red.: D. Rimoin, R. Pyeritz, B. Korf. Academic Press, Cambrige, 2013, 1–21
  16. Ljunger E., Cnattingius S., Lundin C., Anneren G.: Chromosomal anomalies in first-trimester miscarriages. Acta Obstet. Gynecol. Scand., 2005; 84: 1103–1107
  17. McKinlay Gerdner R.J., Shutherland G.R., Shaffer L.G.: Chromosome abnormalities and genetic counseling (Oxford Monographs on Medical Genetics). Oxford University Press, Oxford 2012
  18. Messaed C., Chebaro W., Di Roberto R.B., Rittore C., Cheung A., Arseneau J., Schneider A., Chen M.F., Bernishke K., Surti U., Hoffner L., Sauthier P., Buckett W., Qian J.H., Lau N.M., Bagga R., Engert J.C., Coullin P., Touitou I., Slim R.: NLRP7 in the spectrum of reproductive wastage: Rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage. J. Med. Genet., 2011; 48: 540–548
  19. Mikhail F.M.: Chromosomal basic of inheritance. W: Emery and Rimoin's Principles and Practice of Medical Genetics, red.: D. Rimoin, R. Pyeritz, B. Korf. Academic Press, Cambrige, 2013, 1–26
  20. Pylyp L.Y., Spynenko L.O., Verhoglyad N.V., Mishenko A.O., Mykytenko D.O., Zukin V.D.: Chromosomal abnormalities in products of conception of first-trimester miscarriages detected by conventional cytogenetic analysis: a review of 1000 cases. J. Assist. Reprod. Genet., 2018; 35: 265–271
  21. Qiao Y., Wen J., Tang F., Martell S., Shomer N., Leung P.C., Stephenson M.D., Rajcan-Separovic E.: Whole exome sequencing in recurrent early pregnancy loss. Mol. Hum. Reprod., 2016; 22: 364–372
  22. Quintero-Ronderos P., Mercier E., Fukuda M., Gonzalez R., Suarez C.F., Patarroyo M.A., Vaiman D., Gris J.C., Laissue P.: Novel genes and mutations in patients affected by recurrent pregnancy loss. PLoS One, 2017; 12: e0186149
  23. Rae W., Gao Y., Bunyan D., Holden S., Gilmour K., Patel S., Wellesley D., Williams A.: A novel FOXP3 mutation causing fetal akinesia and recurrent male miscarriages. Clin. Immunol., 2015; 161: 284–285
  24. Royal College of Obstetricians and Gynaecologists: The investigation and treatment of couples with recurrent first-trimester and second-trimester miscarriage. Green Top Guideline No. 17. RCOG, London 2011, 1–18
  25. Sahoo T., Dzidic N., Strecker M.N., Commander S., Travis M.K., Doherty C., Tyson R.W., Mendoza A.E., Stephenson M, Dise C.A., Benito C.W., Ziadie M.S., Hovanes K.: Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges. Genet. Med., 2017; 19: 83–89
  26. Schreck R., Williams III J. Fetal loss. W: Emery and Rimoin's Principles and Practice of Medical Genetics, red.: D. Rimoin, R. Pyeritz, B. Korf. Academic Press, Cambrige, 2013, 1–21
  27. Shi X., Xie X., Jia Y., Li S.: Maternal genetic polymorphisms and unexplained recurrent miscarriage: a systematic review and meta-analysis. Clin. Genet., 2017; 91: 265–287
  28. Skrzypczak J., Rajewski M., Wirstlein P., Goździewicz T., Bręborowicz G., Leszczyńska-Gorzelak B., Ludwikowski G., Preis K., Wołczyński S., Zimmer M.: Częstość występowania trombofilii wrodzonej u kobiet z utratą ciąż w wieloośrodkowych badaniach w Polsce. Ginekol. Pol., 2012; 83: 330–336
  29. Stephenson M.D.: Frequency of factors associated with habitual abortion in 197 couples. Fertil. Steril., 1996; 66: 24–29
  30. Stephenson M.D., Awartani K.A., Robinson W.P.: Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case-control study. Hum. Reprod., 2002; 17: 446–51
  31. Stephenson M.D., Sierra S.: Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of a structural chromosome rearrangement. Hum. Reprod., 2006; 21:1076–1082
  32. The Practice Committee of the American Society for Reproductive Medicine. Evaluation and treatment of recurrent pregnancy loss: A committee opinion. Fertil. Steril., 2012; 98: 1103–1111
  33. Tunç E., Tanrıverdi N., Demirhan O., Süleymanova D., Çetinel N.: Chromosomal analyses of 1510 couples who have experienced recurrent spontaneous abortions. Reprod. Biomed. Online, 2016; 32: 414–410
  34. Wolski H., Barlik M., Drews K., Klejewski A., Kurzawińska G., Ożarowski M., Łowicki Z., Seremak-Mrozikiewicz A.: Contribution of inherited thrombophilia to recurrent miscarriage in the Polish population. Ginekol. Pol., 2017; 88: 385–392
  35. World Health Organization. International Classification of Diseases. 11th ed; 18 June 2018 https://www.who.int/classifications/icd/en/ (14.08.2020)
Language: English
Page range: 116 - 121
Submitted on: May 13, 2020
Accepted on: Oct 27, 2020
Published on: Feb 26, 2021
Published by: Hirszfeld Institute of Immunology and Experimental Therapy
In partnership with: Paradigm Publishing Services
Publication frequency: 1 times per year

© 2021 Ewelina Łazarczyk, Magdalena Pasińska, Katarzyna Osmańska-Załuska, Olga Haus, published by Hirszfeld Institute of Immunology and Experimental Therapy
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.