Phenotypical Characterization of Patients Who Underwent Perinatal Autopsy at the Hospital Universitario San Ignacio
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Dec 18, 2018
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Introduction: Chromosomal disorders cause a high mortality in the fetal and perinatal age group; however, cytogenetic or molecular studies are not routinely performed in our setting. Methods: Study where the morphology of patients subjected to perinatal autopsy in the HUSI during 2012 and 2013, with the diagnostic impression of chromosomal disorder, is characterized and the prenatal clinical characteristics are reviewed. Results: Forty-two cases were included. The majority of cases had placenta, corresponded to the second trimester of pregnancy (median of 15.5 weeks) and the mothers were 18-35 years old. The morphological changes predominated in the head, neck and extremities. Conclusions: The knowledge of the morphological changes from perinatal autopsy is a tool that complements the analysis of mortality in this age group.
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References
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2. Sakamoto A, Kamada Y, Kubo K, Hasegawa T, Kotani S, Nakatsuka M, et al. Slow fetal heart rate before miscarriage in the early first trimester predicts fetal aneuploidy in women with recurrent pregnancy loss. Acta Med Okayama. 2018;72(1):61-6.
3. Macklon NS, Geraedts JPM, Fauser BCJM. Conception to ongoing pregnancy: the “black box” of early pregnancy loss. Hum Reprod Update. 2002;8(4):333-43.
4. Stephenson MD. Frequency of factors associated with habitual abortion in 197 couples. Fertil Steril. 1996;66(1):24-9.
5. Kutteh WH. Novel strategies for the management of recurrent pregnancy loss. Semin Reprod Med. 2015;33(3):161-8.
6. Forero M, Lucena E, Esteban C. Frecuencia de mosaicismos de baja proporción del cromosoma x en parejas con antecedente de aborto recurrente. Rev Cienc Salud. 2006;4(supl 1):23-45.
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8. Horn L-C, Langner A, Stiehl P, Wittekind C, Faber R. Identification of the causes of intrauterine death during 310 consecutive autopsies. Eur J Obstet Gynecol Reprod Biol. 2004;113(2):134-8.
9. Stocker JT. The pediatric autopsy. En: Stocker JT, Dehner LP HA, editores. Pediatric pathology. 3rd ed. Philadelphia: Lippincott Williams and Wilkins; 2011. p. 1-18.
10. McFadden D. First and second trimester pregnancy loss. In: Stocker JT, Dehner LP HA, editores. Pediatric pathology. 3rd ed. Philadelphia: Lippincott Williams and Wilkins; 2011. p. 56-71.
11. van den Berg MMJ, van Maarle MC, van Wely M, Goddijn M. Genetics of early miscarriage. Biochim Biophys Acta. 2012;1822(12):1951-9.
12. Kapur RP SJ. Chromosomal abnormalities. En: Stocker JT, Dehner LP HA, editores. Pediatric pathology. 3rd ed. Philadelphia: Lippincott Williams and Wilkins; 2011. p. 72-93.
13. Khong TY. Spontaneous abortion and the pathology of early pregnancy. En: Keeling JW KT, editor. Fetal and neonatal pathology. 4th ed. London: Springer; 2007. p. 102-22.
14. Ruiz-Ruiz J, Corredor-Sánchez E, García-Perlaza C, Madero-Cervera J, López C, León M et al. Embrioscopía en aborto retenido. Rev Colomb Obstet Ginecol. 2006;57:207-10.
15. Zarante I, Franco L, López C FN. Frecuencia de malformaciones congénitas: evaluación y pronóstico de 52.744 nacimientos en tres ciudades colombianas. Biomédica. 2010;30:65-71.
16. Park S-J, Jung EH, Ryu R-S, Kang HW, Chung HD, Kang H-Y. The clinical application of array CGH for the detection of chromosomal defects in 20,126 unselected newborns. Mol Cytogenet. 2013;6(1):21.
17. Heinonen OP. Spontaneous abortions, stillbirths and birth defects in epidemiological search for risk indicators. Dev Toxicol Environ Sci. 1986;12:63-76.
18. Morales J, Luna L, Mutchinick M. Epidemiología de las malformaciones congénitas. En: Del Castillo Ruiz V, Dulijh R, Zafra de la Roa G, editores. Genética clínica. México D. F.: Manual Moderno; 2001. p. 345-50.
19. Khoury MJ, Erickson JD. Recurrent pregnancy loss as an indicator for increased risk of birth defects: a population-based case-control study. Paediatr Perinat Epidemiol. 1993;7(4):404-16.
20. Kort JD, McCoy RC, Demko Z, Lathi RB. Are blastocyst aneuploidy rates different between fertile and infertile populations? J Assist Reprod Genet. 2018;35(3):403-8.
21. García R, García N, Olaya M, Suárez-Obando F. El mortinato y el mortinato malformado como urgencias médicas: propuesta de manejo interdisciplinario. Pediatría (Santiago). 2010;43(3):166-76.
22. Zarante AM, García G, Zarante I. Evaluación de factores de riesgo asociados con malformaciones congénitas en el programa de vigilancia epidemiológica de malformaciones congénitas (ECLAMC) en Bogotá entre 2001 y 2010. Univ Méd. 2012;53(1):11-25.
23. Vimercati A, Grasso S, Abruzzese M, Chincoli A, de Gennaro A, Miccolis A, et al. Correlation between ultrasound diagnosis and autopsy findings of fetal malformations. J Prenat Med. 2012;6(2):13-7.
24. Papp C, Szigeti Z, Joó JG, Tóth-Pál E, Hajdú J, Papp Z. The role of perinatal autopsy in the management of pregnancies with major fetal trisomies. Pathol Res Pract. 2007;203(7):525-31.
25. Mora-Alferez P, Paredes D, Rodríguez O, Quispe E, Chavesta F, Klein de Zighelboim E, et al. Anomalías cromosómicas en abortos espontáneos. Rev Peru Ginecol y Obstet. 2016;62(2):141-51.
26. Muñetón C, Ramírez J, Vásquez G, Agudelo B. Estudios citogenético y morfológico en producto de aborto espontáneo procedentes de diferentes servicios de ginecoobstetricia de la ciudad de Medellín. Iatreia [Internet]. 1998;11(4):145-61. Disponible en: https://aprendeenlinea.udea.edu.co/revistas/index.php/iatreia/article/view/3666.
27. Piercecchi-Marti MD, Liprandi A, Sigaudy S, Fredouille C, Adalian P, Figarella-Branger D, et al. Value of fetal autopsy after medical termination of pregnancy. Forensic Sci Int. 2004;144(1):7-10.
28. Woodward PJ, Sohaey R, Harris DP, Jackson GM, Klatt EC, Alexander AL, et al. Postmortem fetal MR imaging: comparison with findings at autopsy. AJR Am J Roentgenol. 1997;168(1):41-6.
29. Starikov R, Inman K, Chen K, Lopes V, Coviello E, Pinar H, et al. Comparison of placental findings in type 1 and type 2 diabetic pregnancies. Placenta. 2014;35(12):1001-6.
2. Sakamoto A, Kamada Y, Kubo K, Hasegawa T, Kotani S, Nakatsuka M, et al. Slow fetal heart rate before miscarriage in the early first trimester predicts fetal aneuploidy in women with recurrent pregnancy loss. Acta Med Okayama. 2018;72(1):61-6.
3. Macklon NS, Geraedts JPM, Fauser BCJM. Conception to ongoing pregnancy: the “black box” of early pregnancy loss. Hum Reprod Update. 2002;8(4):333-43.
4. Stephenson MD. Frequency of factors associated with habitual abortion in 197 couples. Fertil Steril. 1996;66(1):24-9.
5. Kutteh WH. Novel strategies for the management of recurrent pregnancy loss. Semin Reprod Med. 2015;33(3):161-8.
6. Forero M, Lucena E, Esteban C. Frecuencia de mosaicismos de baja proporción del cromosoma x en parejas con antecedente de aborto recurrente. Rev Cienc Salud. 2006;4(supl 1):23-45.
7. Haoud K, Mellali S, Gouas L, Tchirkov A, Vago P, Moulessehoul S. Prevalence of aneuploidies in products of spontaneous abortion: interest of FISH and MLPA. Morphologie. 2014;98(320):40-6.
8. Horn L-C, Langner A, Stiehl P, Wittekind C, Faber R. Identification of the causes of intrauterine death during 310 consecutive autopsies. Eur J Obstet Gynecol Reprod Biol. 2004;113(2):134-8.
9. Stocker JT. The pediatric autopsy. En: Stocker JT, Dehner LP HA, editores. Pediatric pathology. 3rd ed. Philadelphia: Lippincott Williams and Wilkins; 2011. p. 1-18.
10. McFadden D. First and second trimester pregnancy loss. In: Stocker JT, Dehner LP HA, editores. Pediatric pathology. 3rd ed. Philadelphia: Lippincott Williams and Wilkins; 2011. p. 56-71.
11. van den Berg MMJ, van Maarle MC, van Wely M, Goddijn M. Genetics of early miscarriage. Biochim Biophys Acta. 2012;1822(12):1951-9.
12. Kapur RP SJ. Chromosomal abnormalities. En: Stocker JT, Dehner LP HA, editores. Pediatric pathology. 3rd ed. Philadelphia: Lippincott Williams and Wilkins; 2011. p. 72-93.
13. Khong TY. Spontaneous abortion and the pathology of early pregnancy. En: Keeling JW KT, editor. Fetal and neonatal pathology. 4th ed. London: Springer; 2007. p. 102-22.
14. Ruiz-Ruiz J, Corredor-Sánchez E, García-Perlaza C, Madero-Cervera J, López C, León M et al. Embrioscopía en aborto retenido. Rev Colomb Obstet Ginecol. 2006;57:207-10.
15. Zarante I, Franco L, López C FN. Frecuencia de malformaciones congénitas: evaluación y pronóstico de 52.744 nacimientos en tres ciudades colombianas. Biomédica. 2010;30:65-71.
16. Park S-J, Jung EH, Ryu R-S, Kang HW, Chung HD, Kang H-Y. The clinical application of array CGH for the detection of chromosomal defects in 20,126 unselected newborns. Mol Cytogenet. 2013;6(1):21.
17. Heinonen OP. Spontaneous abortions, stillbirths and birth defects in epidemiological search for risk indicators. Dev Toxicol Environ Sci. 1986;12:63-76.
18. Morales J, Luna L, Mutchinick M. Epidemiología de las malformaciones congénitas. En: Del Castillo Ruiz V, Dulijh R, Zafra de la Roa G, editores. Genética clínica. México D. F.: Manual Moderno; 2001. p. 345-50.
19. Khoury MJ, Erickson JD. Recurrent pregnancy loss as an indicator for increased risk of birth defects: a population-based case-control study. Paediatr Perinat Epidemiol. 1993;7(4):404-16.
20. Kort JD, McCoy RC, Demko Z, Lathi RB. Are blastocyst aneuploidy rates different between fertile and infertile populations? J Assist Reprod Genet. 2018;35(3):403-8.
21. García R, García N, Olaya M, Suárez-Obando F. El mortinato y el mortinato malformado como urgencias médicas: propuesta de manejo interdisciplinario. Pediatría (Santiago). 2010;43(3):166-76.
22. Zarante AM, García G, Zarante I. Evaluación de factores de riesgo asociados con malformaciones congénitas en el programa de vigilancia epidemiológica de malformaciones congénitas (ECLAMC) en Bogotá entre 2001 y 2010. Univ Méd. 2012;53(1):11-25.
23. Vimercati A, Grasso S, Abruzzese M, Chincoli A, de Gennaro A, Miccolis A, et al. Correlation between ultrasound diagnosis and autopsy findings of fetal malformations. J Prenat Med. 2012;6(2):13-7.
24. Papp C, Szigeti Z, Joó JG, Tóth-Pál E, Hajdú J, Papp Z. The role of perinatal autopsy in the management of pregnancies with major fetal trisomies. Pathol Res Pract. 2007;203(7):525-31.
25. Mora-Alferez P, Paredes D, Rodríguez O, Quispe E, Chavesta F, Klein de Zighelboim E, et al. Anomalías cromosómicas en abortos espontáneos. Rev Peru Ginecol y Obstet. 2016;62(2):141-51.
26. Muñetón C, Ramírez J, Vásquez G, Agudelo B. Estudios citogenético y morfológico en producto de aborto espontáneo procedentes de diferentes servicios de ginecoobstetricia de la ciudad de Medellín. Iatreia [Internet]. 1998;11(4):145-61. Disponible en: https://aprendeenlinea.udea.edu.co/revistas/index.php/iatreia/article/view/3666.
27. Piercecchi-Marti MD, Liprandi A, Sigaudy S, Fredouille C, Adalian P, Figarella-Branger D, et al. Value of fetal autopsy after medical termination of pregnancy. Forensic Sci Int. 2004;144(1):7-10.
28. Woodward PJ, Sohaey R, Harris DP, Jackson GM, Klatt EC, Alexander AL, et al. Postmortem fetal MR imaging: comparison with findings at autopsy. AJR Am J Roentgenol. 1997;168(1):41-6.
29. Starikov R, Inman K, Chen K, Lopes V, Coviello E, Pinar H, et al. Comparison of placental findings in type 1 and type 2 diabetic pregnancies. Placenta. 2014;35(12):1001-6.
Como Citar
Olaya Contreras, M., Ortega Rico, R. I., Moreno Niño, O. M., & Suárez Obando, F. (2018). Phenotypical Characterization of Patients Who Underwent Perinatal Autopsy at the Hospital Universitario San Ignacio. Universitas Medica, 60(1). https://doi.org/10.11144/Javeriana.umed60-1.feno
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