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    Do genetic factors explain recurrent pregnancy loss?

    We are at the dawn of a new age in the identification of etiologies for both isolated and recurrent pregnancy loss

     

    Many possible RPL genes may be found to code for proteins crucial to early embryonic and fetal development as well as those, as reported above, associated with lethal arrhythmias. Epigenetic and even microRNA abnormalities may also be involved.12 Eventually, relatively inexpensive multi-gene panels and other high throughput screens may be used to screen for genetic causes of isolated and recurrent pregnancy loss providing closure to patients as to the cause of heartbreaking losses and eliminating often irrational impulses of guilt and anger that can have professional liability consequences. It will also dissuade physicians from employing aggressive, expensive and/or unproven treatments in an effort help desperate patents. In the interim, additional studies should be initiated to determine the prevalence of arrhythmogenic mutations as a cause of otherwise unexplained fetal losses. This approach has the added advantage of identifying affected parents who can then be offered life-saving interventions.

     

    References

    1. Contro E, deSouza R, Bhide A. Chronic intervillositis of the placenta: a systematic review. Placenta. 2010;31(12):1106-1110.

    2. Committee on Practice Bulletins—Obstetrics. ACOG Practice Bulletin No. 132: Antiphospholipid syndrome. Obstet Gynecol. 2012;120(6):1514-1521.

    3. Stephenson MD, Sierra S. Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of a structural chromosome rearrangement. Hum Reprod. 2006;21(4):1076-1082.

    4. Paterson AD, Wang KR, Lupea D, St George-Hyslop P, Pei Y. Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2002;40(1):16-20.

    5. Vogt J, Harrison BJ, Spearman H, et al. Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. Am J Hum Genet. 2008;82(1):222-227.

    6. Crotti L, Tester DJ, White WM, et al. Long QT syndrome-associated mutations in intrauterine fetal death. JAMA. 2013;309(14):1473-1482.

    7. Crotti L, Celano G, Dagradi F, Schwartz PJ. Congenital long QT syndrome. Orphanet J Rare Dis. 2008;3:18. doi:10.1186/1750-1172-3-18.

    8.  Arnestad M, Crotti L, Rognum TO, et al. Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007;115(3):361-367.

    9. Chiang CE. Congenital and acquired long QT syndrome. Current concepts and management. Cardiol Rev. 2004;12(4):222-234.

    10. Huang JY, Su M, Lin SH, Kuo PL. A genetic association study of NLRP2 and NLRP7 genes in idiopathic recurrent miscarriage. Hum Reprod. 2013; 28(4):1127-1134.

    11. Reddy UM, Page GP, Saade GR. The role of DNA microarrays in the evaluation of fetal death. Prenat Diagn. 2012;32(4):371-375.

    12. Wang X, Li B, Wang J, et al. Evidence that miR-133a causes recurrent spontaneous abortion by reducing HLA-G expression. Reprod Biomed Online. 2012;25(4):415-424.

    Charles J Lockwood, MD, MHCM
    Dr Lockwood, Editor-in-Chief, is Dean of the Morsani College of Medicine and Senior Vice President of USF Health, University of South ...

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    • Dr. Robert Knuppel
      Dr. Lockwood makes very important points to help constructively assist patients who generally are grasping at straws for an answer. They are generally offered the expensive testing for answers from non-proven causes. The increase in these very,very low yielding tests has been increasing largely because many offer "answers" and do not say " we simply do not know "and do not reveal the poor positive predictive value of the tests. This plethora of tests are of non-value to the customer and perhaps Lockwood's commentary should be shared with the patient with explanation of the more abstruse terminology.

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