Consejería genética y diagnóstico prenatal: recomendaciones y futuras perspectivas para Colombia

Dora Lucía Vallejo-Ardila

Resumen


Introducción: En el ámbito mundial la prevalencia de malformaciones congénitas en recién nacidos oscila entre 3 al 5%; en Colombia en 2007, se convirtió por primera vez en la causa más frecuente de mortalidad infantil. El objetivo de esta revisión de la literatura es describir la importancia de implementar protocolos diagnósticos y de consejería genética prenatal en Colombia. Metodología: Se realizó la búsqueda de la literatura en las bases de datos MEDLINE/PubMed, OVID, SciELO, Sciencedirect y ProQuest, utilizando términos MeSH como: “genetic counselling and congenital anomalies”, “prenatal diagnosis”, “genetic services”, “ECLAMC” y “Genetics in Latin America” para delimitar la búsqueda de artículos de revisión, y estudios descriptivos observacionales, que permitieran hacer un seguimiento detallado sobre los avances realizados los últimos diez años sobre consejería genética y diagnóstico prenatal en Colombia. Resultados: Es necesario implementar el uso racional de algoritmos diagnósticos y un mejor plan de control prenatal por parte del personal médico considerando la importancia de indagar por antecedentes de exposición a agentes teratogénicos, antecedente familiares positivos para malformaciones congénitas y estimar el riesgo de recurrencia, para lograr remitir al especialista de manera oportuna y éste pueda realizar su intervención precoz. Conclusiones: El diagnóstico prenatal implica correlacionar hallazgos ultrasonográficos con marcadores séricos para evaluar la necesidad de pruebas invasivas según la priorización del riesgo de anomalías congénitas. Esto debe hacerse en coordinación con un servicio multidisciplinario de  consejería genética que incluya: neonatología, perinatología, pediatría, ginecología, obstetricia, psiquiatría, trabajo social y  psicología.

 


Palabras clave


Anomalías congénitas; asesoramiento genético; diagnóstico prenatal; genética; pruebas genéticas. (Fuente: DeCS BIREME)

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Referencias


Stembalska A, Slezak R, Pesz K, Gil J, Sasiadek M. Prenatal diagnosis - principles of diagnostic procedures and genetic counseling. Folia Histochem Cytobiol. 2007;45 (Suppl 1):S11-6.

Bernal J, Zarante I. Malformaciones y anomalías congénitas: impacto y futuro. Biomédica 2009;29:7-8. https://doi.org/10.7705/biomedica.v29i1.34

Correa C, Mallarino C, Pe-a R, Rincón LC, Gracia G, Zarante I. Congenital malformations of pediatric surgical interest: Prevalence, risk factors, and prenatal diagnosis between 2005 and 2012 in the capital city of a developing country. Bogotá, Colombia. J Pediatr Surg. 2014;49(7):1099-103. https://doi.org/10.1016/j.jpedsurg.2014.03.001

Lisi A, Botto LD, Rittler M, Castilla E, Bianchi F, Botting B, et al. Sex and congenital malformations: An international perspective. Am J Med Genet A. 2005;134A(1):49-57. https://doi.org/10.1002/ajmg.a.30514

Baltaxe E, Zarante I. Prevalencia de malformaciones cardíacas congenitas en 44,985 nacimientos en Colombia. Arch cardio Mex. 2006;76(3):263-8.

Tennant PWG, Samarasekera SD, Pless-Mulloli T, Rankin J. Sex differences in the prevalence of congenital anomalies: A population-based study. Birth Defects Res A Clin Mol Teratol. 2011;91(10):894-901. https://doi.org/10.1002/bdra.22846

Rittler M, López-Camelo J, Castilla EE. Sex ratio and associated risk factors for 50 congenital anomaly types: Clues for causal heterogeneity. Birth Defects Res A Clin Mol Teratol. 2004 Jan;70(1):13-9. https://doi.org/10.1002/bdra.10131

Suarez-Obando F, Ordonez-Vasquez A, Zarante I. Defectos del tubo neural y ácido fólico: patogenia, metabolismo y desarrollo embriológico. Revisión de la literatura Rev Colomb Obstet Ginecol. 2010;61(1): 49-60.

Castillo-Taucher S. Servicios para la atención y la prevención de defectos congénitos: Síntesis de una reunión de la Organización Mundial de la Salud y la Fundación March of Dimes. Rev med Chile 2007;135(6):806-13. https://doi.org/10.4067/S0034-98872007000600018

Khajuria R, Gupta N, Sapra S, Gulati S, Ghosh M, Kalra V, et al. A novel MECP2 change in an Indian boy with variant rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis. J Child Neurol. 2011;26(2):209-13. https://doi.org/10.1177/0883073810378535

Mercier S, Dubourg C, Belleguic M, Pasquier L, Loget P, Lucas J, et al. Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE). Am J Med Genet C Semin Med Genet. 2010;154C(1):191-6. https://doi.org/10.1002/ajmg.c.30246

Eason J. Prenatal diagnosis of single gene disorders. Obstet Gynaecol Reprod Med. 2010; 20:155-60. https://doi.org/10.1016/j.ogrm.2010.02.004

Chen CP, Huang MC, Su YN, Tsai FJ, Wu PC, Lee CC, et al. Recurrent Distal 16q Duplication and Terminal 22q Deletion: Prenatal Diagnosis and Genetic Counseling. Taiwan J Obstet Gynecol. 2010;49(4):544-7. https://doi.org/10.1016/S1028-4559(10)60117-9

Chen CP, Su YN, Hsu CY, Chern SR, Tsai FJ, Wu PC, et al. Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling. Taiwan J Obstet Gynecol. 2010;49(4):481-6. https://doi.org/10.1016/S1028-4559(10)60101-5

Atkin K, Ahmad WIU, Anionwu EN. Screening and counselling for sickle cell disorders and thalassaemia: The experience of parents and health professionals. Soc Sci Med. 1998;47(11):1639-51. https://doi.org/10.1016/S0277-9536(98)00261-5

Christianson A, Howson CP, Modell B. The March of Dimes global report of birth defects, The hidden toll of dying and disable children. White Plains, New York: March of Dimes Birth Defects Foundation; 2006.

Zarante I, Franco L, López C, Fernández N. Frecuencia de malformaciones congénitas: evaluación y pronóstico de 52.744 nacimientos en tres ciudades colombianas. Biomédica 2010;30(1):65-71. https://doi.org/10.7705/biomedica.v30i1.154

Gil AA. Reforma del sistema de salud en Colombia: Focalización del gasto públicos social en salud. Semest. Econ. 2008;11(21): 45-63.

Pilnick A, Dingwall R. Research directions in genetic counselling: a review of the literature. Patient Educ Couns. 2001;44(2):95-105. https://doi.org/10.1016/S0738-3991(00)00181-6

Press N, Browner CH. Why women say yes to prenatal diagnosis. Soc Sci Med. 1997;45(7):979-89. https://doi.org/10.1016/S0277-9536(97)00011-7

Evans M, Bergum V, Bamforth S, MacPhail S. Relational ethics and genetic counseling. Nurs Ethics. 2004;11(5):459-71. https://doi.org/10.1191/0969733004ne724oa

Harper PS. Genetic counselling. In: Harper PS. Practical genetic counselling. Butterworth Heinemann: Oxford; 1998. p. 3-19.

Grimm T, Zerres K. Genetic Counseling and Prenatal Diagnosis Vogel and Motulsky's Human Genetics. In: Speicher MR, Motulsky AG, Antonarakis SE. Vogel and Motulsky's Human Genetics. 4th ed. Berlin: Springer; 2010. p. 845-66. https://doi.org/10.1007/978-3-540-37654-5_39

Quaid KA, Cushman LJ. Genetic counseling. In: Cheng L, Zhang D. Essentials of Molecular Genetic Pathology 2nd Edition. Totowa, NJ: Humana Press;2013. p. 645-52. https://doi.org/10.1007/978-1-4614-4800-6_24

White SL, Collins VR, Wolfe R, Cleary MA, Shanske S, DiMauro S, et al. Genetic Counseling and Prenatal Diagnosis for the Mitochondrial DNA Mutations at Nucleotide 8993. Am J Hum Genet. 1999;65(2):474-82. https://doi.org/10.1086/302488

Warburton D, Dallaire L, Thangavelu M, Ross L, Levin B, Kline J. Trisomy Recurrence: A Reconsideration Based on North American Data. Am J Hum Genet. 2004; 75(3): 376–85. https://doi.org/10.1086/423331

Alison S. Risk and reproductive decisions: British Pakistani couples' responses to genetic counseling. Soc Sci Med. Jul 2011; 73(1): 111–20. https://doi.org/10.1016/j.socscimed.2011.04.011

Callahan D. Ethics, law, and genetic counseling. Science 1972;176(4031):197-200. https://doi.org/10.1126/science.176.4031.197

Hunfeld JA, Tempels A, Passchier J, Hazebroek FW, Tibboel D. Brief report: parental burden and grief one year after the birth of a child with a congenital anomaly. J Pediatr Psychol. 1999;24(6):515-20. https://doi.org/10.1093/jpepsy/24.6.515

Jay LR, Afifi WA, Samter W. The Role of Expectations in Effective Genetic Counseling. J Gen Couns 2000; 9(2):95-116. https://doi.org/10.1023/A:1009493424814

Benn PA. Advances in prenatal screening for Down syndrome: II first trimester testing, integrated testing, and future directions. Clin Chim Acta. 2002;324(1-2):1-11. https://doi.org/10.1016/S0009-8981(02)00187-0

Zuffardi, O., A. Vetro, Brady P, et al. Array technology in prenatal diagnosis. Semin Fetal Neonatal Med 2011;16: 94-98. https://doi.org/10.1016/j.siny.2010.12.001

Duncan A, Langlois S; SOGC Genetics Committee; CCMG Prenatal Diagnosis Committee. Use of array genomic hybridization technology in prenatal diagnosis in Canada. J Obstet Gynaecol Can. 2011;33(12):1256-9. https://doi.org/10.1016/S1701-2163(16)35112-X

Smith SC, Miller J. Prenatal diagnosis technology: equal access for all women. Birth Defects Orig Artic Ser. 1990;26(3):76-80.

Matwejew E, Cowans NJ, Stamatopoulou A, Spencer K, von Kaisenberg CS. Maternal serum ADAM-12 as a potential marker for different adverse pregnancy outcomes. Fetal Diagn Ther. 2010;27(1):32-9. https://doi.org/10.1159/000275669

Kirkegaard I, Uldbjerg N, Oxvig C. Biology of pregnancy-associated plasma protein-A in relation to prenatal diagnostics: an overview. Acta Obstet Gynecol Scand. 2010;89(9):1118-25. https://doi.org/10.3109/00016349.2010.505639

D'Alton ME. Nuchal translucency quality monitoring: the transition from research to clinical care. Obstet Gynecol. 2010;116(4):806-7.

Mendoza-Caamal EC, Grether-González P, Hernández-Gómez M, Guzmán-Huerta M, Aguinaga-Ríos M. Birth defects associated with increased nuchal translucency. Ginecol Obstet Mex 2010; 78(10): 533-539.

Shanks A, Odibo A. Nasal bone in prenatal trisomy 21 screening. Obstet Gynecol Surv. 2010;65(1):46-52. https://doi.org/10.1097/OGX.0b013e3181c9bafc

Vintzileos A, Walters C, Yeo L. Absent nasal bone in the prenatal detection of fetuses with trisomy 21 in a high-risk population. Obstet Gynecol 2003; 101(5 Pt 1): 905-908. https://doi.org/10.1016/S0029-7844(03)00170-4

Grandjean H, Larroque D, Levi S. The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study. Am J Obstet Gynecol. 1999;181(2):446-54. https://doi.org/10.1016/S0002-9378(99)70577-6

Laigaard J, Spencer K, Christiansen M, Cowans NJ, Larsen SO, Pedersen BN, et al. ADAM 12 as a first-trimester maternal serum marker in screening for Down syndrome. Prenat Diagn 2006; 26:973-9. https://doi.org/10.1002/pd.1540

Dolan SM. Prenatal Genetic Testing. Pediatr Ann. 2009;38(8):426-30. https://doi.org/10.3928/00904481-20090723-05

Souka AP, Pilalis A, Kavalakis I, Antsaklis P, Papantoniou N, Mesogitis S, et al. Screening for major structural abnormalities at the 11- to 14-week ultrasound scan. Am J Obstet Gynecol. 2006;194(2):393-6. https://doi.org/10.1016/j.ajog.2005.08.032

Simpson JL, Elias S. Isolating fetal cells from maternal blood. Advances in prenatal diagnosis through molecular technology. JAMA 1993; 270(19): 2357-61. https://doi.org/10.1001/jama.1993.03510190113036

Gómez-Ruiz JC, Fernández N, Páez P, Zarante. Detección de anomalías congénitas en 12.760 nacimientos de tres hospitales en la Ciudad de Bogotá, Colombia 2004-2005 mediante ecografía prenatal. Rev Colomb Obstet Ginecol 2007; 58(3):194-201.

Kurjak A, Azumendi G, Andonotopo W, Salihagic-Kadic A. Three- and four-dimensional ultrasonography for the structural and functional evaluation of the fetal face. Am J Obstet Gynecol. 2007;196(1):16-28. https://doi.org/10.1016/j.ajog.2006.06.090

Zheng Y, Zhou XD, Zhu YL, Wang XL, Qian YQ, Lei XY, et al. Three- and 4-dimensional ultrasonography in the prenatal evaluation of fetal anomalies associated with trisomy 18. J Ultrasound Med. 2008;27(7):1041-51. https://doi.org/10.7863/jum.2008.27.7.1041

Alba E, Lauricella A, De Grandis T, Calleri W, Latino MA. Transcervical vs. transabdominal amniocentesis in the bacterial evaluation of the amniotic fluid. Minerva Ginecol 1992; 44(6):301-6.

Chen CP, Lin SP, Tzen CY, Hwu WL, Chern SR, Chuang CK, et al. Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (hunter syndrome). Genet Couns. 2007;18(1):49-56.

Carlin AJ, Alfirevic Z. Techniques for chorionic villus sampling and amniocentesis: a survey of practice in specialist UK centres. Prenat Diagn. 2008;28(10):914-9. https://doi.org/10.1002/pd.2060

Caughey AB, Hopkins LM, Norton ME. Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss. Obstet Gynecol. 2006;108(3 Pt 1):612-6.

https://doi.org/10.1097/01.AOG.0000232512.46869.fc

Preis K, Ciach K, Swiatkowska-Freund M. The risk of complications of diagnostic and therapeutic cordocentesis. Ginekol Pol. 2004;75(10):765-9.

Toutain J, Epiney M, Begorre M, Dessuant H, Vandenbossche F, Horovitz J, et al. First-trimester prenatal diagnosis performed on pregnant women with fetal ultrasound abnormalities: the reliability of interphase fluorescence in situ hybridization (FISH) on mesenchymal core for the main aneuploidies. Eur J Obstet Gynecol Reprod Biol. 2010;149(2):143-6. https://doi.org/10.1016/j.ejogrb.2009.12.015

Gorduza EV, Onofriescu M, Martiniuc V, Grigore M, Mihălceanu E, Iliev G. FISH technique in aneuplodies prenatal diagnosis. Rev Med Chir Soc Med Nat Iasi. 2007;111(4):990-5

Lapierre JM, Cacheux V, Collot N, Da Silva F, Hervy N, Rivet D, et al. Comparison of comparative genomic hybridization with conventional karyotype and classical fluorescence in situ hybridization for prenatal and postnatal diagnosis of unbalanced chromosome abnormalities. Ann Genet 1998; 41(3): 133-40.

Lichtenbelt KD, Knoers NV, Schuring-Blom GH. From karyotyping to array-CGH in prenatal diagnosis. Cytogenet Genome Res. 2011;135(3-4):241-50.

Fernández N, Henao-Mejía J, Monterrey P, Pérez J, Zarante I. Association between maternal prenatal vitamin use and congenital abnormalities of the genitourinary tract in a developing country. J Pediatr Urol. 2012;8(2):121-6. https://doi.org/10.1016/j.jpurol.2011.07.005

Nasr A, Langer JC. Influence of location of delivery on outcome in neonates with gastroschisis. J Pediatr Surg. 2012;47(11):2022-5. https://doi.org/10.1016/j.jpedsurg.2012.07.037

Nasr A, Langer JC, Canadian Pediatric Surgery Network. Influence of location of delivery on outcome in neonates with congenital diaphragmatic hernia. J Pediatr Surg. 2011;46(5):814-6. https://doi.org/10.1016/j.jpedsurg.2011.02.007




DOI: http://dx.doi.org/10.20320/rfcsudes.v1i2.224

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