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Genetic Evaluation and Counseling of Couples with Recurrent Miscarriage: Recommendations of the National Society of Genetic Counselors

  • Professional Issues
  • Published:
Journal of Genetic Counseling

Abstract

The objective of this document is to provide recommendations for genetic evaluation and counseling of couples with recurrent miscarriage (RM). The recommendations are the opinions of the multidisciplinary Inherited Pregnancy Loss Working Group (IPLWG), with expertise in genetic counseling, medical genetics, maternal fetal medicine, internal medicine, infectious disease, cytogenetics, and coagulation disorders. The IPLWG defines RM as three or more clinically recognized consecutive or non-consecutive pregnancy losses occurring prior to fetal viability (<24 weeks gestation). These recommendations are provided to assist genetic counselors and other health care providers in clinical decision-making, as well as to promote consistency of patient care, guide the allocation of medical resources, and increase awareness of the psychosocial and cultural issues experienced by couples with RM. The IPLWG was convened with support from the March of Dimes Western Washington State Chapter and the University of Washington Division of Medical Genetics. The recommendations are U.S. Preventive Task Force Class III, and are based on clinical experiences, review of pertinent English-language published articles, and reports of expert committees. This document reviews the suspected causes of RM, provides indications for genetic evaluation and testing, addresses psychosocial and cultural considerations, and provides professional and patient resources. These recommendations should not be construed as dictating an exclusive course of medical management, nor does the use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the circumstances of a specific case, should always supersede these recommendations.

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References

  • ACOG. (2001). ACOG practice bulletin. Management of recurrent pregnancy loss. Number 24, February 2001. (Replaces Technical Bulletin Number 212, September 1995). American College of Obstetricians and Gynecologists. Int J Gynaecol Obstet, 78(2), 179–190.

    Google Scholar 

  • ACOG. (2000). ACOG practice bulletin. Thromboembolism in pregnancy. Number 19.

  • Arias, F., Romero, R., Joist, H., & Kraus, F. T. (1998). Thrombophilia: A mechanism of disease in women with adverse pregnancy outcome and thrombotic lesions in the placenta. J Matern Fetal Med, 7(6), 277–286.

    Article  CAS  PubMed  Google Scholar 

  • Bane, A., & Gillan, J. E. (2003). Massive perivillous fibrinoid causing recurrent placental failure. BJOG, 110(3), 292–295.

    CAS  PubMed  Google Scholar 

  • Beever, C. L., Stephenson, M. D., Penaherrera, M. S., Jiang, R. H., Kalousek, D. K., Hayden, M., Field, L., Brown, C. J., & Robinson, W. P. (2003). Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies. Am J Hum Genet, 72(2), 399–407.

    Google Scholar 

  • Bennett, R. L. (1999). The practical guide to genetic counseling. New York: Wiley-Liss.

    Google Scholar 

  • Bennett, R. L., Steinhaus, K. A., Uhrich, S. B., O’Sullivan, C. K., Resta, R. G., Lochner-Doyle, D., Markel, D. S., Vincent, V., & Hamanishi, J. (1995). Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors. Am J Hum Genet, 56(3), 745–752.

    CAS  PubMed  Google Scholar 

  • Brenner, B., Sarig, G., Weiner, Z., Younis, J., Blumenfeld, Z., & Lanir, N. (1999). Thrombophilic polymorphisms in women with fetal loss. Thromb Haemost, 82, 6–9.

    CAS  PubMed  Google Scholar 

  • Bricker, L., & Farquharson, R. G. (2002). Types of pregnancy loss in recurrent miscarriage: Implications for research and clinical practice. Hum Reprod, 17(5), 1345–1350.

    Article  CAS  PubMed  Google Scholar 

  • Carp, H., Feldman, B., Oelsner, G., & Schiff, E. (2004). Parental karyotype and subsequent live births in recurrent miscarriage. Fertil Steril, 81(5), 1296–1301.

    PubMed  Google Scholar 

  • Carp, J., Toder, V., Aviram, A., Daniely, M., Mashiach, S., & Barkai, G. (2001). Karyotype of the abortus in recurrent miscarriage. Fertil Steril, 75(4), 678–682.

    CAS  PubMed  Google Scholar 

  • Carrell, D. T., Wilcox, A. L., Lowy, L., Peterson, C. M., Jones, K. P., Erickson, L., Campbell, B., Branch, D. W., & Hatasaka, H. H. (2003). Elevated sperm chromosome aneuploidy and apoptosis in patients with unexplained recurrent pregnancy loss. Obstet Gynecol, 101(6), 1229–1235.

    Article  PubMed  Google Scholar 

  • Cecil, R. (Ed.). (1996). The anthropology of pregnancy loss: Comparitive studies in miscarriage, stillbirth and neonatal death. Washington, DC: Berg Publishers.

    Google Scholar 

  • Chalmers, B., & Meyer, D. (1992a). A cross-cultural view of the psychosocial management of miscarriage. J Psychosom Obstet Gynaecol, 13, 163–176.

    Google Scholar 

  • Chalmers, B., & Meyer, D. (1992b). A cross-cultural view of the emotional experience of miscarriage. J Psychosom Obstet Gynaecol, 13, 177–186.

    Google Scholar 

  • Chui, D. H. K., & Waye, J. S. (1998). Hydrops fetalis caused by α-thalassemia: An emerging health care problem. Blood, 91(7), 2213–2222.

    CAS  PubMed  Google Scholar 

  • Chung, P., & Yeko, T. (1996). Recurrent miscarriage: Causes and management. Hosp Pract, 31(5), 157–164.

    CAS  Google Scholar 

  • Clifford, K., Rai, R., & Regan, L. (1997). Future pregnancy outcome in unexplained recurrent first trimester miscarriage. Hum Reprod, 12(2), 387–389.

    Article  CAS  PubMed  Google Scholar 

  • College of American Pathologist. (1991). The examination of the placenta: Patient care and risk management. Arch Pathol Lab Med, 115, 660721.

    Google Scholar 

  • Corbet-Owen, C. (2003). Women’s perceptions of partner support in the context of pregnancy loss(es). South African J Psychol, 33(1), 19–27.

    Google Scholar 

  • Corbet-Owen, C., & Kruger, L. M. (2001). The health system and emotional care: Validating the many meanings of spontaneous pregnancy loss. Fam Syst Health, 19(4), 411–427.

    Google Scholar 

  • Cook, S. M., Himebaugh, K. S., & Frank, T. S. (1993). Absence of cytomegalovirus in gestational tissue in recurrent spontaneous abortion. Diagn Mol Pathol, 2(2), 116–119.

    CAS  PubMed  Google Scholar 

  • Cordle, C. J., & Prettyman, R. J. (1994). A 2-year follow-up of women who have experienced early miscarriage. J Reprod Infant Psychol, 12(1), 37–43.

    Google Scholar 

  • Craig, M., Tata, P., & Regan, L. (2002). Psychiatric morbidity among patients with recurrent miscarriage. J Psychosom Obstet Gynaecol, 23(3), 157–164.

    CAS  PubMed  Google Scholar 

  • Daya, S. (1994). Issues in the etiology of recurrent spontaneous abortion. Curr Opin Obstet, 6(2), 153–159.

    CAS  Google Scholar 

  • Dizon-Townson, D., Nelson, L., Scott, J. R., Branch, D. W., & Ward, K. (1995). Human leukocyte antigen DQ alpha sharing is not increased in couples with recurrent miscarriage. Am J Reprod Immunol, 34(4), 209–212.

    CAS  PubMed  Google Scholar 

  • Dufour, P., Berard, J., Vinatier, D., Savary, J. B., Dubreucq, S., Monnier, J. C., & Puech, F. (1997). Myotonic dystrophy and pregnancy. A report of two cases and a review of the literature. Eur J Obstet Gynecol Reprod Biol, 72(2), 159–164.

    Article  CAS  PubMed  Google Scholar 

  • Erikson, A., Forsberg, H., Drugge, U., & Holmgren, G. (1995). Outcome of pregnany in women with myotonic dystrophy and analysis of CTG gene expansion. Acta Paediatr, 84(4), 416–418.

    CAS  PubMed  Google Scholar 

  • Foka, Z. J., Lambropoulos, A. F., Saravelos, H., Karas, G. B., Karavida, A., Agorastos, T., Zournatzi, V., Makris, P. E., Bontis, J., & Kotsis, A. (2000). Factor V leiden and prothrombin G20210A mutations, but not methylenetetrahydrofolate reductase C677T, are associated with recurrent miscarriages. Hum Reprod, 15(2), 458–462.

    CAS  PubMed  Google Scholar 

  • Freda, M. C., Devine, K. S., & Semelsberger, C. (2003). The lived experience of miscarriage after infertility. MCN Am J Matern Child Nurs, 28(1), 16–23.

    Article  PubMed  Google Scholar 

  • Fryns, J. P., & Van Buggenhout, G. (1998). Structural chromosome rearrangements in couples with recurrent fetal wastage. Eur J Obstet Gynecol Reprod Biol, 81(2), 171–176.

    Article  CAS  PubMed  Google Scholar 

  • Gardella, J. R., & Hill, J. A., III. (2000). Environmental toxins associated with recurrent pregnancy loss. Semin Reprod Med, 18(4), 407–424.

    Article  CAS  PubMed  Google Scholar 

  • Gardner, R., & Sutherland, G. (2004). Chromosome abnormalities and genetic counseling (3rd ed.). New York: Oxford University Press Inc.

    Google Scholar 

  • Gell, J. S. (2003). Mullerian anomalies. Semin Reprod Med, 21(4), 375–388.

    Article  PubMed  Google Scholar 

  • Greenhouse, S. J., & Stillman, R. J. (1998). Cigarette smoking and reproduction. Effects on fecundity and early pregnancy outcomes. Infertil Reprod Med Clin North Am, 9(4), 699–723.

    Google Scholar 

  • Haas, S. (2001). Prevention of venous thromboembolism: Recommendations based on the International Consensus and the American College of Chest Physicians Sixth Consensus Conference on Antithrombotic Therapy. Clin Appl Thromb Hemost, 7(3), 171–177.

    CAS  PubMed  Google Scholar 

  • Habayeb, O., & Konje, J. (2004). The one-stop recurrent miscarriage clinic: An evaluation of its effectiveness and outcome. Hum Reprod (Adv Access published Sept. 23, 2004. PubMed ID 15388685).

  • Harper, P. (2004). Practical genetic counseling (5th ed.). New York: Oxford University Press Inc.

    Google Scholar 

  • Hatzis, T., Cardamakis, E., Drivalas, E., Makatsoris, K., Bevan, D., Pantos, C., Malliopoulou, V., Tsagaris, N., Kreatsa, O., Antoniadi, T., Petersen, M. B., Karageorgiou, H., & Mantouvalos, H. (1999). Increased resistance to activated protein C and factor V Leiden in recurrent abortions: Review of other hypercoagulability factors. Eur J Contracept Reprod Health Care, 4(3), 135–144.

    CAS  PubMed  Google Scholar 

  • Hogge, W. A., Byrnes, A. L., Lanasa, M. C., & Surti, U. (2003). The clinical use of karyotyping spontaneous abortions. Am J Obstet Gynecol, 189(2), 397–400.

    Article  PubMed  Google Scholar 

  • Hori, S., Nakano, Y., Yamada, A., Azuma, H., Noda, Y., Sugiura, M., Aoki, K., Kitamura, T., & Furukawa, T. A. (2002). Personality, social support, coping and emotional distress after repeated spontaneous abortions. J Psychosom Obstet Gynaecol, 23(2), 133–140.

    CAS  PubMed  Google Scholar 

  • Hsia, Y. E., Hunt, J. A., Yuen, J., Chu, B. M., Ford, C. A., & Hall, J. (1990). α-Globin variants in Southeast Asians in Hawaii. Ann NY Acad Sci, 612, 496–498.

    Google Scholar 

  • Iwahashi, M., Muragaki, Y., Ooshima, A., & Nakano, R. (1996). Decreased type IV collagen expression by human decidual tissues in spontaneous abortion. J Clin Endocrinol Metab, 81(8), 2925–2929.

    Article  CAS  PubMed  Google Scholar 

  • Iwahashi, M., & Nakano, R. (1998). Decreased type V collagen expression in human decidual tissues of spontaneous abortion during early pregnancy. J Clin Pathol, 51, 44–46.

    CAS  PubMed  Google Scholar 

  • Johnson, M. P., & Puddifoot, J. E. (1996). The grief response in the partners of women who miscarry. Br J Med Psychol, 69(Pt 4), 313–327.

    PubMed  Google Scholar 

  • Katz, V. L., & Kuller, J. A. (1994). Recurrent miscarriage. Am J Perinatol, 11(6), 386–397.

    CAS  PubMed  Google Scholar 

  • Klock, S. C., Chang, G., Hiley, A., & Hill, J. (1997). Psychological distress among women with recurrent spontaneous abortion. Psychosomatics, 38(5), 503–507.

    CAS  PubMed  Google Scholar 

  • Kovalevsky, G., Gracia, C. R., Berlin, J. A., Sammel, M. D., & Barnhart, K. T. (2004). Evaluation of the association between hereditary thrombophilias and recurrent pregnancy loss: A meta-analysis. Arch Intern Med, 164(5), 558–563.

    Article  PubMed  Google Scholar 

  • Kujovich, J. L. (2004). Thrombophilia and pregnancy complications. Am J Obstet Gynecol, 191(2), 412–424.

    Article  PubMed  Google Scholar 

  • Lanasa, M. C., & Hogge, W. A. (2000). X chromosome defects as an etiology of recurrent spontaneous abortion. Semin Reprod Med, 18(1), 97–103.

    Article  CAS  PubMed  Google Scholar 

  • Lanasa, M. C., Hogge, W. A., Kubik, C., Blancato, J., & Hoffman, E. P. (1999). Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion. Am J Hum Genet, 65(1), 252–254.

    Article  CAS  PubMed  Google Scholar 

  • Lau, Y. L., Chan, L. C., Chan, Y. A., Ha, S. Y., Yeung, C. Y., Waye, J. S., & Chui, D. H. K. (1997). Prevalence and genotypes of α- and β-thalassemia carriers in Hong Kong implications for population screening. NEJM, 336, 1298–1301.

    Article  CAS  PubMed  Google Scholar 

  • Lejeune, B., Grun, J. P., de Nayer, P., Servais, G., & Glinoer, D. (1993). Antithyroid antibodies underlying thyroid abnormalities and miscarriage or pregnancy induced hypertention. Br J Obstet Gynaecol, 100(7), 669–672.

    CAS  PubMed  Google Scholar 

  • Lemmens-Zygulska, M., Eigel, A., Helbig, B., Sanguansermsri, T., Horst, J., & Flatz, G. (1996). Prevalence of α-thalassemias in northern Thailand. Hum Genet, 98, 345–347.

    Article  CAS  PubMed  Google Scholar 

  • Li, T. C. (1998). Recurrent miscarriage: Principles of management. Hum Reprod, 13(2), 478–482.

    Article  CAS  PubMed  Google Scholar 

  • Li, T. C., Igbal, T., Anstie, B., Gillham, J., Amer, S., Wood, K., & Laird, S. (2002a). An analysis of the pattern of pregnancy loss in women with recurrent miscarriage. Fertil Steril, 78(5), 1100–1106.

    Article  Google Scholar 

  • Li, T. C., Makris, M., Tomsu, M., Tuckerman, E., & Laird, S. (2002b). Recurrent miscarriage: Aetiology, management and prognosis. Hum Reprod Update, 8(5), 463–481.

    Article  CAS  Google Scholar 

  • Lockwood, C. J. (2002). Inherited thrombophilias in pregnant patients: Detection and treatment paradigm. Obstet Gynecol, 99(2), 333–341.

    Article  PubMed  Google Scholar 

  • Lockwood, C. Inherited thrombophilias in pregnancy. http://www.uptodate.com (accessed 8/14/2003).

  • Madden, M. E. (1994). The variety of emotional reactions to miscarriage. Women Health, 21(2–3), 85–104.

    CAS  PubMed  Google Scholar 

  • Mills, J. L., Simpson, J. L., Driscoll, S. G., Jovanovic-Peterson, L., Van Allen, M., Aarons, J. H., Metzger, B., Bieber, F. R., Knopp, R. H., Holmes, L. B., et al. (1988). Incidence of spontaneous abortion among normal women and insulin-dependent diabetic women whose pregnancies were identified within 21 days of conception. N Engl J Med, 319(25), 1617–1623.

    CAS  PubMed  Google Scholar 

  • Miodovnik, M., Lavin, J. P., Knowles, H. C., Holroyde, J., & Stys, S. J. (1984). Spontaneous abortion among insulin-dependent diabetic women. Am J Obstet Gynecol, 150(4), 372–376.

    CAS  PubMed  Google Scholar 

  • Murphy, R. P., Donoghue, C., Nallen, R. J., D’Mello, M., Regan, C., Whitehead, A. S., & Fitzgerald, D. J. (2000). Prospective evaluation of the risk conferred by factor V Leiden and thermolabile methylenetetrahydrofolate reductase polymorphisms in pregnancy. Arterioscler Thromb Vasc Biol, 20(1), 266–270.

    CAS  PubMed  Google Scholar 

  • Nelen, W. L., Blom, H. J., Steegers, E. A., den Heijer, M., & Eskes, T. K. (2000). Hyperhomocysteinemia and recurrent early pregnancy loss: A meta-analysis. Fertil Steril, 74(6), 1196–1199.

    Article  CAS  PubMed  Google Scholar 

  • Ness, R. B., Grisso, J. A., Hirschinger, N., Markovic, N., Shaw, L. M., Day, N. L., & Kline, J. (1999). Cocaine and tobacco use and the risk of spontaneous abortion. N Engl J Med, 340(5), 333–339.

    Article  CAS  PubMed  Google Scholar 

  • Nybo, A. A., Wohlfahrt, J., Christens, P., Olsen, J., & Melbye, M. (2000). Is maternal age an independent risk factor for fetal loss? West J Med, 173(5), 331.

    Article  PubMed  Google Scholar 

  • Ogasawara, M., Aoki, K., Okada, S., & Suzomori, K. (2000). Embryonic karyotype of abortuses in relation to the number of previous miscarriages. Fertil Steril, 73(2), 300–304.

    CAS  PubMed  Google Scholar 

  • Old, J. M. (2003). Screening and genetic diagnosis of haemoglobin disorders. Blood Rev, 17, 43–53.

    Article  CAS  PubMed  Google Scholar 

  • Palinski, C., & Pizer, H. (1980). Coping with a miscarriage: Why it happens and how to deal with its impact on your family. New York: New American Library.

    Google Scholar 

  • Parazzini, F., Acaia, B., Ricciardiello, O., Fedele, L., Liati, P., & Candiani, G. B. (1988). Short-term reproductive prognosis when no cause can be found for recurrent miscarriage. Br J Obstet Gynaecol, 95, 654–658.

    CAS  PubMed  Google Scholar 

  • Paukku, M., Tulppala, M., Puolakkainen, M., Anttila, T., & Paavonen, J. (1999). Lack of association between serum antibodies to Chlamydia trachomatis and a history of recurrent pregnancy loss. Fertil Steril, 72(3), 427–430.

    Article  CAS  PubMed  Google Scholar 

  • Pegoraro, E., Whitaker, J., Mowery-Rushton, P., Surti, U., Lanasa, M., & Hoffman, E. P. (1997). Familial skewed X inactivation: A molecular trait associated with high spontaneous-abortion rate maps to Xq28. Am J Hum Genet, 61(1), 160–170.

    CAS  PubMed  Google Scholar 

  • Portnoi, M. F., Joye, N., van den Akker, J., Morlier, G., & Taillemite, J. L. (1988). Karyotypes of 1142 couples with recurrent abortion. Obstet Gynecol, 72(1), 31–34.

    CAS  PubMed  Google Scholar 

  • Powers, R., Dunbar, M., Gallaher, M., & Roberts, J. M. (2003). The 677 C-T methylenetetrahydrofolate reductase mutation does not predict increased maternal homocysteine during pregnancy. Obstet Gynecol, 101(4), 762–766.

    Article  CAS  PubMed  Google Scholar 

  • Puck, J. M., & Willard, H. F. (1998). X inactivation in females with X-linked disease. N Engl J Med, 338(5), 325–328.

    Article  CAS  PubMed  Google Scholar 

  • Rai, R., Backos, M., Rushworth, F., & Regan, L. (2000). Polycystic ovaries and recurrent miscarriage—A reappraisal. Hum Reprod, 15(3), 612–615.

    Article  CAS  PubMed  Google Scholar 

  • Rasch, V. (2003). Cigarette, alcohol, and caffeine consumption: Risk factors for spontaneous abortion. Acta Obstet Gynecol Scand, 82, 182–188.

    Article  PubMed  Google Scholar 

  • Reich, L., Bower, M., & Key, N. (2003). Role of the geneticist in testing and counseling for inherited thrombophilia. Genet Med, 5(3), 133–143.

    PubMed  Google Scholar 

  • Reindollar, R. H. (2000). Contemporary issues for spontaneous abortion: Does recurrent abortion exist? Obstet Gynecol Clin North Am, 27(3), 541–555.

    CAS  PubMed  Google Scholar 

  • Rey, E., Kahn, S. R., David, M., & Shrier, I. (2003). Thrombophilic disorders and fetal loss: A meta-analysis. Lancet, 361(9361), 901–908.

    Article  PubMed  Google Scholar 

  • Rice, P. (1990). “When the baby falls: The cultural construction of miscarriage among Hmong women in Australia.” Women Health, 30(1), 85–103.

    Google Scholar 

  • Robinson, W. P., Beever, C., Brown, C. J., & Stephenson, M. D. (2001). Skewed X inactivation and recurrent spontaneous abortion. Semin Reprod Med, 19(2), 175–181.

    Article  CAS  PubMed  Google Scholar 

  • Roque, H., Paidas, M. J., Funai, E. F., Kuczynski, E., & Lockwood, C. J. (2001). Maternal thrombophilias are not associated with early pregnancy loss. Thromb Haemost, 91(2), 290–295.

    Google Scholar 

  • Rosendaal, F. R., Doggen, C. J., Zivelin, A., Arruda, V. R., Aiach, M., Siscovick, D. S., Hillarp, A., Watzke, H. H., Bernardi, F., Cumming, A. M., Preston, F. E., & Reitsma, P. H. (1998). Geographic distribution of the 20210 G to A prothrombin variant. Thromb Haemost, 79(4), 706–708.

    CAS  PubMed  Google Scholar 

  • Rudnik-Schoneborn, S., Nicholson, G. A., Morgan, G., Rohrig, D., & Zerres, K. (1998). Different patterns of obstetric complications in myotonic dystrophy in relation to the disease status of the fetus. Am J Med Genet, 80, 314–321.

    Article  CAS  PubMed  Google Scholar 

  • Sadler, T. (2000). Langman’s medical embryology (8th ed.). Maryland: Lippincott Williams and Wilkins.

    Google Scholar 

  • Sarig, G., Younis, J. S., Hoffman, R., Lanir, N., Blumenfeld, Z., & Brenner, B. (2002). Thrombophilia is common in women with idiopathic pregnancy loss and is associated with late pregnancy wastage. Fertil Steril, 77(2), 342–347.

    PubMed  Google Scholar 

  • Schieve, L., Tatham, L., Peterson, H. B., Toner, J., & Jeng, G. (2003). Spontaneous abortion among pregnancies conceived using assisted reproductive technology in the United States. Obstet Gynecol, 101(5 Pt 1), 959–967.

    Article  PubMed  Google Scholar 

  • Schreck, R., & Silverman, N. (2002). Fetal loss. In D. L. Rimoin, J. M. Connor, R. E. Pyeritz, B. Korf (Eds.), Emery and Rimoin’s principles and practise of medical genetics (4th ed., pp. 982–997). London: Churchill Livingstone.

    Google Scholar 

  • Sha, J. (1990). Mothers of Thyme: Customs and rituals of infertility and miscarriage. Minnesota: Lida Ross Press.

    Google Scholar 

  • Shawky, Z., Badawy, A., & Westpfal, E. M. (2000). Frequency of etiological factors and cost effectiveness of the work up for patients with history of recurrent pregnancy loss. Early Pregnancy, 4(4), 253–260.

    PubMed  Google Scholar 

  • Stagnaro-Green, A., Roman, S. H., Cobin, R. H., el-Harazy, E., Alvarez-Marfany, M., & Davies, T. F. (1990). Detection of at-risk pregnancy by means of highly sensitive assays for thyroid autoantibodies. JAMA, 264(11), 1422–1425.

    CAS  PubMed  Google Scholar 

  • Steegers-Theunissen, R. P., Van Iersel, C. A., Petronella, G. P., Nelen, W., & Steergers, E. (2004). Hyperhomocysteinemia, pregnancy complications, and timing of investigation. Obstet Gynecol Aug, 104(2), 336–343.

    CAS  Google Scholar 

  • Stirrat, G. M. (1990). Recurrent miscarriage. II. Clinical associations, causes, and management. Lancet, 336, 728–733.

    Article  CAS  PubMed  Google Scholar 

  • Stray-Pederson, B., & Stray Pederson, S. (1984). Etiological factors and subsequent reproductive performance in 195 couples with a prior history of habitual abortion. Am J Obstet Gynecol, 148, 140–146.

    CAS  PubMed  Google Scholar 

  • Sullivan, A. E., Lewis, T., Stephenson, M., Odem, R., Schreiber, J., Ober, C., & Branch, D. W. (2003). Pregnancy outcome in recurrent miscarriage patients with skewed X chromosome inactivation. Obstet Gynecol, 101(6), 1236–1242.

    Article  PubMed  Google Scholar 

  • Sullivan, A. E., Silver, R. M., LaCoursiere, Y., Porter, F., & Branch, D. W. (2004). Recurrent fetal aneuploidy and recurrent miscarraige. Obstet Gynecol, 104(4), 784–788.

    PubMed  Google Scholar 

  • Swanson, K. (2000). Predicting depressive symptoms after miscarriage: A path analysis based on the Lazarus paradigm. J Womens Health Gend Based Med, 9(2), 191–206.

    Article  CAS  PubMed  Google Scholar 

  • Sybert, V. P. (2005). Turner syndrome. In S. B. Cassidy, J. E. Allanson (Eds.), Management of genetic syndrome (2nd ed., pp. 459–484). New York: Wiley-Liss.

    Google Scholar 

  • Sybert, V. P., & McCauley, E. (2004). Turner’s syndrome. N Engl J Med, 351, 1227–1238.

    Article  CAS  PubMed  Google Scholar 

  • Tait, R. C., Walker, I. D., Perry, D. J., Islam, S. I., Daly, M. E., McCall, F., Conkie, J. A., & Carrell, R. W. (1994). Prevalence of antithrombin deficiency in the healthy population. Br J Haemotol, 87(1), 106–112.

    CAS  Google Scholar 

  • Tharapel, A. T., Tharapel, S. A., & Bannerman, R. M. (1985). Recurrent pregnancy losses and parental chromosome abnormalities: A review. Br J Obstet Gynaecol, 92(9), 899–914.

    CAS  PubMed  Google Scholar 

  • Toedter, L. J., Lasker, J. N., & Janssen, H. J. (2001). International comparison of studies using the perinatal grief scale: A decade of research on pregnancy loss. Death Stud, 25(3), 205–228.

    Article  CAS  PubMed  Google Scholar 

  • Tulppala, M., Palosuo, T., Ramsay, T., Miettinen, A., Salonen, R., & Ylikorkala, O. (1993). A prospective study of 63 couples with a history of recurrent spontaneous abortion: Contributing factors and outcome of subsequent pregnancies. Hum Reprod, 8(5), 764–770.

    CAS  PubMed  Google Scholar 

  • Van, P., & Meleis, A. (2003). Coping with grief after involuntary pregnancy loss: Perspectives of African American women. J Obstet Gynecol Neonatal Nurs, 32(1), 28–39.

    Article  PubMed  Google Scholar 

  • Wagenknecht, D. R., Green, K. M., & McIntyre, J. A. (1997). Analyses of HLA-DQ alleles in recurrent spontaneous abortion (RSA) couples. Am J Reprod Immunol, 37(1), 1–6.

    Article  CAS  PubMed  Google Scholar 

  • Warburton, D., Dallaire, L., Thangavelu, M., Ross, L., Levin, B., & Kline, J. (2004). Trisomy recurrence: A reconsideration based on North America data. Am J Hum Genet, 75, 376–385.

    Article  CAS  PubMed  Google Scholar 

  • Weil, J. (2000). Psychosocial genetic counseling. New York: Oxford University Press Inc.

    Google Scholar 

  • Werler, M. M. (1997). Teratogen update: Smoking and reproductive outcomes. Teratology, 55(6), 382–388.

    Article  CAS  PubMed  Google Scholar 

  • Wilding, M., Forman, R., Hogewind, G., Di Matteo, L., Zullo, F., Cappiello, F., & Dale, B. (2004). Preimplantation genetic diagnosis for the treatment of failed in vitro fertilization-embryo transfer and habitual abortion. Fertil Steril, 81(5), 1302–1307.

    Article  PubMed  Google Scholar 

  • Winter, E., Wang, J., Davies, M. J., & Norman, R. (2002). Early pregnancy loss following assisted reproductive technology treatment. Hum Reprod, 17(12), 3220–3223.

    Article  PubMed  Google Scholar 

  • Zhou, C., Knight, D. C., Tyler, J. P., & Driscoll, G. L. (1998). Factors affecting pregnancy outcome resulting from assisted reproductive technology (ART). J Obstet Gynaecol Res, 24(5), 343–347.

    CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington

    Mercy Y. Laurino, Robin L. Bennett (MS, CGC), Devki S. Saraiya & Wendy H. Raskind

  2. Group Health Cooperative, Burien Medical Center, Seattle, Washington

    Lisa Baumeister

  3. Washington State Department of Health, Genetic Services Section, Kent, Washington

    Debra Lochner Doyle

  4. Department of Pathology, Group Health Cooperative, Genetic Services and University of Washington, Seattle, Washington

    Kathleen Leppig

  5. National Society of Genetic Counselors, Genetic Services Committee, Bend, Oregon

    Barbara Pettersen

  6. Swedish Medical Center, Perinatal Medicine, Seattle, Washington

    Robert Resta

  7. Department of Obstetrics and Gynecology, School of Medicine, University of Washington, Seattle, Washington

    Larry Shields

  8. Prenatal Genetics and Fetal Therapy, University of Washington, Seattle, Washington

    Stefanie Uhrich

  9. Division of Human Genetics, Ohio State University, Columbus, Ohio

    Elizabeth A. Varga

  10. Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington

    Wendy H. Raskind

  11. Division of Medical Genetics, University of Washington, Box 357720, Seattle, Washington, 98195-7720

    Robin L. Bennett (MS, CGC)

Authors
  1. Mercy Y. Laurino
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  2. Robin L. Bennett
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  3. Devki S. Saraiya
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  4. Lisa Baumeister
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  5. Debra Lochner Doyle
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  6. Kathleen Leppig
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  7. Barbara Pettersen
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  8. Robert Resta
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  9. Larry Shields
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  10. Stefanie Uhrich
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  11. Elizabeth A. Varga
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  12. Wendy H. Raskind
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Corresponding author

Correspondence to Robin L. Bennett.

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Laurino, M.Y., Bennett, R.L., Saraiya, D.S. et al. Genetic Evaluation and Counseling of Couples with Recurrent Miscarriage: Recommendations of the National Society of Genetic Counselors. J Genet Counsel 14, 165–181 (2005). https://doi.org/10.1007/s10897-005-3241-5

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  • DOI: https://doi.org/10.1007/s10897-005-3241-5

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