Recurrent miscarriage in a balanced chromosomal translocation carrier

Authors

  • José Ricardo Magliocco Ceroni FCMS/PUC-SP
  • Marta Wey Vieira FCMS/PUC-SP
  • Júlio Boschini Filho FCMS/PUC-SP
  • Débora Aparecida Rodrigueiro FCMS/PUC-SP

Keywords:

habitual abortion, spontaneous abortion, genetic translocation, genetic counseling.

Abstract

ABSTRACT
This case report describes a 30-year-old female patient, carrier of a balanced chromosomal translocation. The patient has a past of three consecutives abortions, the first two losses during the tenth week of pregnancy and the third during the eighth week. This situation motivated the couple to seek the obstetrics & gynecologic professional at the Basic Health Care Unit, who referred them to the Genetic ambulatory care. Karyotype reveals the female patient carries a balanced chromosomal translocation, being 46,XX, t(1;16)(p36;q22), while her partner is normal 46,XY. Such chromosomal abnormality is largely linked with recurrent miscarriage in early pregnancy and the risk of birth of an abnormal child, therefore it is recommended genetic counseling and assisted reproduction if another pregnancy is desired.

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Author Biographies

José Ricardo Magliocco Ceroni, FCMS/PUC-SP

Acadêmico do curso de Medicina FCMS/PUC-SP

Marta Wey Vieira, FCMS/PUC-SP

Professora do Depto. de Medicina FCMS/PUC-SP

Júlio Boschini Filho, FCMS/PUC-SP

Professor do Depto. de Morfologia e Patologia FCMS/PUC-SP

Débora Aparecida Rodrigueiro, FCMS/PUC-SP

Professora do Depto. de Morfologia e Patologia FCMS/PUC-SP

References

Moron AF, Camaro L, Kulay Júnior L. Obstetrícia. São Paulo: Manole; 2011.

Bricker L, Farqujarson RG. Types of pregnancy loss in recurrent miscarriage: implications for research and clinical practice. Hum Reprod. 2002;17(5):1345-50.

Keunout KR. Pregnanycy loss: evaluation and discussion of the causes and their management. Cleve Clin J Med. 2006;73(10):913-21.

Lejeune V. Early recurrent spontaneous abortion: how to take care in 2006? Gynecol Obstet Fertil. 2006;34(10):927-37.

Stephenson MD. Management of recurrent early pregnancy loss. J Reprod Med. 2006;51(4):303-10.

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):1076-82.

Nussbaum RL, Mcinnes RR, Williard HF. Thompson & Thompson genética médica. Rio de Janeiro: Elsevier; 2008.

Mendez HMM, Paskulin GA, Cheffe MR, Scanavio MT. Estudo citogenético de 75 casais com abortos recorrentes. Rev AMRIGS. 1989;33(4):300-4.

Benute GRG, Quayle J, Armbruster E, Miyadahira S, Zugaib M. A compreensão de informações por gestantes durante o aconselhamento genético. Rev Ginecol Obstet. 2002;11(2):103-9.

Goel H, Phadke R. Reciprocal balanced translocation: infertility and recurrent spontaneous abortions in a family. Andrologia. 2011;43:75-7.

JIANG J, FU MU, WANG D. Cytogenetic analysis in 61 couples with spontaneous abortions Chin Med J. 2001;114(2):200-1.

Wyatt PR, Owolabi T, Meier C, Huang T. Age-specific risk of fetal loss observed in a second trimester serum screening population. Am J Obstet Gynecol. 2005; 192(1):240-6.

Brown S. Miscarriage and its associations. Semin Reprod Med. 2008;26(5):391-400.

Hsu L. Prenatal diagnosis of chromosomal abnormalities through amniocentesis. In: Milunsky A, editor. Genetic disorders and the fetus. 4th ed. Baltimore: The Johns Hopkins University; 1998. p. 179.

Silva AE, Migliori IK, Jorge YC, Santos JR. Casais com abortamento espontâneo recorrente: participação das translocações cromossômicas. Arq Ciênc Saúde. 2007;14(4):211-5.

Stoll C. Cytogenetic findings in 122 couples with recurrent abortions. Hum Genet. 1981;57:101-3.

Makino T, Tabuchi T, Nakada K, Iwasaki K, Tamura S, Iizuka R. Chromosomal analysis in Japanese couples with repeated spontaneous abortions. Int J Fertil. 1990;35:266-70.

McFadden DE, Friedman JM. Chromosome abnormalities in human beings. Mutat Res. 1997;396:129-40.

Wikins-Haug LE, Rein MS, Hornstein MD. Oligospermic men: the role of karyotype analysis prior to intracytoplasmatic sperm injection. Fertil Steril. 1997;67:612-4.

Lawler AM, Gearhart JD. Genetic counseling for patients who will be undergoing treatment with assisted reproductive technology. Fertil Steril. 1998;70:412-3.

Kuo PL. Maternal trisomy 21 mosaicism and recurrent spontaneous abortion. Fertil Steril. 2002;78:423-3.

Gekas J, Meens R, Gondry J, Mathieu M, Thepot F. Value of karyotyping women patients of couples referred for sterility. Gynecol Obstet Fertil. 2003;31:66-9.

Martin RH, Spriggs EL. Sperm chromosome complements in a man heterogygous for a reciprocal translocation 46XY,t(9;13)(q21.1;q21.2) and a review of the literature. Clin Genet. 1995;47:42-6.

Engel W, Murphy D, Schmid M. Are there genetic risks associated with microassisted reproduction? Hum Reprod. 1996;11:2359-70.

Shah K, Sivapalan G, Gibbons N, Tempest H, Griffin DK. The genetic basis of infertility. Reproduction. 2003;126(1):13-25.

Opitz JM, Shapiro SS, Uehling DT. Genetic causes and workup of male and female infertility. Postgrad. Med. 1979;65:247.

Pal S, Ma SO, Norhasimah M, Suhaida MA, Siti Mariam I, Anjathil R, et al. Chromossomal abnormalities and reproductive outcome in Malaysian couples with miscarriages. Singapore Med J. 2009;50(10):1008.

Scriven PN, Flinter FA, Khalaf Y, Lashwood A, Ogilvie CM. Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study. Eur J Human Genet. 2013. doi: 10.1038/ejhg.2013.9.

Liu JY, Wang XR, Zeng CS, Zhang CS, Hao S, Song YC. Molecular cytogenetic characterization of a familial balanced reciprocal translocation. Cytogenet Genome Res. 2003;103:8-13.

Ozkul Y, Dundar M. A family with two different chromosomal translocations. Ann Genet. 2002;45:185-7.

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Published

2013-12-16

How to Cite

1.
Ceroni JRM, Vieira MW, Boschini Filho J, Rodrigueiro DA. Recurrent miscarriage in a balanced chromosomal translocation carrier. Rev. Fac. Ciênc. Méd. Sorocaba [Internet]. 2013Dec.16 [cited 2024Nov.23];15(4):133-5. Available from: https://revistas.pucsp.br/index.php/RFCMS/article/view/17654

Issue

Vol. 15 No. 4 (2013)

Section

Case Report

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