Trisomía 13 y sus alteraciones placentarias. Reporte de caso
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may 16, 2012
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Resumen
Las alteraciones cromosómicas son una importante causa de muerte en humanos. Su diagnóstico cuenta con nuevas herramientas que están cada vez más al alcance y permiten correlacionar los hallazgos de los estudios fetales y placentarios; sin embargo, no en todas las instituciones de salud colombianas se cuenta con tales recursos. Se reporta un caso de trisomía 13, corroborada por hibridación fluorescente in situ (FISH) y se analizan las manifestaciones histológicas encontradas en la placenta, la cual sí puede ser estudiada de manera rutinaria.
Keywords
trisomía, FISH, placenta, Trisomy, FISH, placenta
References
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2. Feldman B, Aviram-Goldring A, Evans MI. Interphase FISH for prenatal diagnosis of common aneuploidies. In: Fan YS. Methods in molecular biology. Vol. 204. New York: Humana Press; 2002. p. 219-
41.
3. Jones KL. Chromosomal abnormality syndromes. En: Smith´s recognizable patterns of human malformation. New York: Elsevier; 2006. p. 18-9.
4. García NV, Chávez C, Miranda del Olmo H. Un caso de trisomía 13 con una cardiopatía compleja. Rev Mex Pediatr. 2003;70(3):139-42.
5. Chen H. Atlas of genetic diagnosis and counseling. Totowa (New Jersey): Human Press; 2006. p. 985-7.
6. Boyd P, Keeling J. Congenital abnormalities and the examination of the fetus following prenatal suspicion of congenital abnormality. In: Keeling J. Fetal and neonatal pathology. 3th ed. London: Springer;
2001. p. 111-52.
7. Sepúlveda W, Dezerega V, Be C, Sánchez J, Gutiérrez J, Carstens E. Trisomía 13: diagnóstico citogenético prenatal y hallazgos ultrasonográficos. Rev Chil Ultrason. 1999;2(1):23-7
8. Kapur R, Siebert J. Chromosomal abnormalities. In: Stocker T, Dehner L, Husain A. Pediatric pathology. 3rd ed. Philadelphia: Lippincott Williams and Wilkins; 2011. p. 72-93.
9. Duarte AC, Menezes AIC. Patau syndrome with a long survival: a case report. Genet Mol Res. 2004;3(2):288-92.
10. Kraus F, Redline R, Gersell D, Nelson M, Dicke J. Abortion, stillbirth, and intrauterine fetal Death. In: Placental pathology. 1st ed. Washington, DC: American Registry of Pathology (AFIP); 2004. p. 207-28.
11. Arizawa M, Nakayama M. Pathological analysis of the placenta in trisomies 21, 18 and 13. Nippon Sanka Fujinka Gakkai Zasshi. 1992 Jan;44(1):9-13.
12. Chen CP. Placental abnormalities and preeclampsia in trisomy 13 pregnancies. Taiwan J Obstet Gynecol. 2009 Mar;48(1):3-8.
13. McFadden D. First and second trimester pregnancy loss. In: Stocker J, Dehner L, Husain A. Pediatric pathology. 3rd ed. Philadelphia: Lippincott Williams and Wilkins; 2011. p. 56-71.
14. Müngen E, Dundar O, Muhcu M, Haholu A, Tunca Y. Placental mesenchymal dysplasia associated with trisomy 13: sonographic findings. J Clin Ultrasound. 2008 Sep;36(7):454-6.
15. Predanic M, Perni S, Chasen S, Baergen R and Chervenak F. Ultrasound evaluation of abnormal umbilical cord coiling in second trimester of gestation in association with adverse pregnancy outcome. Am J Obstet Gynecol. 2005;193(2):387-94.
16. De Laat M, Van Alderen E, Franx A, Visser G, Bots M et al. The umbilical coiling index in complicated pregnanacy. Eur J Obstet Gynecol Reprod Biol. 2007;130:66-72.
17. Kaplan C. Umbilical cord. In: Color atlas of gross placental pathology. 2nd ed. New York: Springer; 2007. p. 25-44.
18. Sankaran S. Aetiology and pathogenesis of IUGR. Best Pract Res Clin Obstet Gynaecol. 2009; 23(6):765-77.
19. Mu S, Lin C, Chen Y, Sung T, Bai C et al. The perinatal outcomes of asymptomatic isolated single umbilical artery in full-term neonates. Pediatr Neonatol. 2008;49:230-3.
20. McDonald D, Kelehan P, Mcmenamin J, Gorman W, Madden D, Tobbia I, Mooney E. Placental fetal thrombotic vasculopathy is associated with neonatal encephalopathy. Hum Pathol. 2004 Jul;35(7):875-80.
21. Roberts DJ. Placental pathology, a survival guide. Arch Pathol Lab Med. 2008 Apr;132(4):641-51.
22. Boyd TK, Redline RW. Pathology of the placenta. In: Gilbert-Barness E. Potter´s pathology of the fetus, infant and child. Second edition. Vol 1. New York: Mosby-Elsevier; 2007. p. 645-94.
23. Gaba AR, Anderson GJ, VanDyke DL, Chason JL. Alobar holoprosencephaly and otocephaly in a female infant with a normal karyotype and placental villitis. J Med Genet. 1982 Feb;19(1):78.
2. Feldman B, Aviram-Goldring A, Evans MI. Interphase FISH for prenatal diagnosis of common aneuploidies. In: Fan YS. Methods in molecular biology. Vol. 204. New York: Humana Press; 2002. p. 219-
41.
3. Jones KL. Chromosomal abnormality syndromes. En: Smith´s recognizable patterns of human malformation. New York: Elsevier; 2006. p. 18-9.
4. García NV, Chávez C, Miranda del Olmo H. Un caso de trisomía 13 con una cardiopatía compleja. Rev Mex Pediatr. 2003;70(3):139-42.
5. Chen H. Atlas of genetic diagnosis and counseling. Totowa (New Jersey): Human Press; 2006. p. 985-7.
6. Boyd P, Keeling J. Congenital abnormalities and the examination of the fetus following prenatal suspicion of congenital abnormality. In: Keeling J. Fetal and neonatal pathology. 3th ed. London: Springer;
2001. p. 111-52.
7. Sepúlveda W, Dezerega V, Be C, Sánchez J, Gutiérrez J, Carstens E. Trisomía 13: diagnóstico citogenético prenatal y hallazgos ultrasonográficos. Rev Chil Ultrason. 1999;2(1):23-7
8. Kapur R, Siebert J. Chromosomal abnormalities. In: Stocker T, Dehner L, Husain A. Pediatric pathology. 3rd ed. Philadelphia: Lippincott Williams and Wilkins; 2011. p. 72-93.
9. Duarte AC, Menezes AIC. Patau syndrome with a long survival: a case report. Genet Mol Res. 2004;3(2):288-92.
10. Kraus F, Redline R, Gersell D, Nelson M, Dicke J. Abortion, stillbirth, and intrauterine fetal Death. In: Placental pathology. 1st ed. Washington, DC: American Registry of Pathology (AFIP); 2004. p. 207-28.
11. Arizawa M, Nakayama M. Pathological analysis of the placenta in trisomies 21, 18 and 13. Nippon Sanka Fujinka Gakkai Zasshi. 1992 Jan;44(1):9-13.
12. Chen CP. Placental abnormalities and preeclampsia in trisomy 13 pregnancies. Taiwan J Obstet Gynecol. 2009 Mar;48(1):3-8.
13. McFadden D. First and second trimester pregnancy loss. In: Stocker J, Dehner L, Husain A. Pediatric pathology. 3rd ed. Philadelphia: Lippincott Williams and Wilkins; 2011. p. 56-71.
14. Müngen E, Dundar O, Muhcu M, Haholu A, Tunca Y. Placental mesenchymal dysplasia associated with trisomy 13: sonographic findings. J Clin Ultrasound. 2008 Sep;36(7):454-6.
15. Predanic M, Perni S, Chasen S, Baergen R and Chervenak F. Ultrasound evaluation of abnormal umbilical cord coiling in second trimester of gestation in association with adverse pregnancy outcome. Am J Obstet Gynecol. 2005;193(2):387-94.
16. De Laat M, Van Alderen E, Franx A, Visser G, Bots M et al. The umbilical coiling index in complicated pregnanacy. Eur J Obstet Gynecol Reprod Biol. 2007;130:66-72.
17. Kaplan C. Umbilical cord. In: Color atlas of gross placental pathology. 2nd ed. New York: Springer; 2007. p. 25-44.
18. Sankaran S. Aetiology and pathogenesis of IUGR. Best Pract Res Clin Obstet Gynaecol. 2009; 23(6):765-77.
19. Mu S, Lin C, Chen Y, Sung T, Bai C et al. The perinatal outcomes of asymptomatic isolated single umbilical artery in full-term neonates. Pediatr Neonatol. 2008;49:230-3.
20. McDonald D, Kelehan P, Mcmenamin J, Gorman W, Madden D, Tobbia I, Mooney E. Placental fetal thrombotic vasculopathy is associated with neonatal encephalopathy. Hum Pathol. 2004 Jul;35(7):875-80.
21. Roberts DJ. Placental pathology, a survival guide. Arch Pathol Lab Med. 2008 Apr;132(4):641-51.
22. Boyd TK, Redline RW. Pathology of the placenta. In: Gilbert-Barness E. Potter´s pathology of the fetus, infant and child. Second edition. Vol 1. New York: Mosby-Elsevier; 2007. p. 645-94.
23. Gaba AR, Anderson GJ, VanDyke DL, Chason JL. Alobar holoprosencephaly and otocephaly in a female infant with a normal karyotype and placental villitis. J Med Genet. 1982 Feb;19(1):78.
Cómo citar
Olaya Contreras, M., & Zarante, A. (2012). Trisomía 13 y sus alteraciones placentarias. Reporte de caso. Universitas Medica, 53(4), 443–451. https://doi.org/10.11144/Javeriana.umed53-4.tapr
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Sección
Reportes de caso