Indicaciones de estudio genético invasivo en una población seleccionada: Agosto de 2005 a diciembre de 2007

Autores:
Alcedo Ramírez, Alezander D.
Serrano Serrano, Claudia
Rojas, José Luiis
Molina Giraldo, Saulo
Acuña Osorio, Edgar Mariano
Franco, Alejandro
Galvis, Pablo
Arévalo, Ingrid
Tipo de recurso:
Article of journal
Fecha de publicación:
2009
Institución:
Fundación Universitaria de Ciencias de la Salud - FUCS
Repositorio:
Repositorio Digital Institucional ReDi
Idioma:
spa
OAI Identifier:
oai:repositorio.fucsalud.edu.co:001/2432
Acceso en línea:
https://repositorio.fucsalud.edu.co/handle/001/2432
https://doi.org/10.31260/RepertMedCir.v18.n2.2009.538
Palabra clave:
translucencia nucal
cariotipo
síndromes genéticos
anomalías estructurales
screening prenatal
síndrome de Down
Nuchal translucency
karyotype
genetic syndromes
structural anomalies
prenatal screening
Down syndrome
Rights
openAccess
License
Fundación Universitaria de Ciencias de la Salud FUCS - 0
id FUCS2_98d49930e04bc6f7accf19ccd8337fa9
oai_identifier_str oai:repositorio.fucsalud.edu.co:001/2432
network_acronym_str FUCS2
network_name_str Repositorio Digital Institucional ReDi
repository_id_str
dc.title.spa.fl_str_mv Indicaciones de estudio genético invasivo en una población seleccionada: Agosto de 2005 a diciembre de 2007
dc.title.translated.eng.fl_str_mv Indications of invasive genetic study in a selected population: August 2005 to December 2007
title Indicaciones de estudio genético invasivo en una población seleccionada: Agosto de 2005 a diciembre de 2007
spellingShingle Indicaciones de estudio genético invasivo en una población seleccionada: Agosto de 2005 a diciembre de 2007
translucencia nucal
cariotipo
síndromes genéticos
anomalías estructurales
screening prenatal
síndrome de Down
Nuchal translucency
karyotype
genetic syndromes
structural anomalies
prenatal screening
Down syndrome
title_short Indicaciones de estudio genético invasivo en una población seleccionada: Agosto de 2005 a diciembre de 2007
title_full Indicaciones de estudio genético invasivo en una población seleccionada: Agosto de 2005 a diciembre de 2007
title_fullStr Indicaciones de estudio genético invasivo en una población seleccionada: Agosto de 2005 a diciembre de 2007
title_full_unstemmed Indicaciones de estudio genético invasivo en una población seleccionada: Agosto de 2005 a diciembre de 2007
title_sort Indicaciones de estudio genético invasivo en una población seleccionada: Agosto de 2005 a diciembre de 2007
dc.creator.fl_str_mv Alcedo Ramírez, Alezander D.
Serrano Serrano, Claudia
Rojas, José Luiis
Molina Giraldo, Saulo
Acuña Osorio, Edgar Mariano
Franco, Alejandro
Galvis, Pablo
Arévalo, Ingrid
dc.contributor.author.spa.fl_str_mv Alcedo Ramírez, Alezander D.
Serrano Serrano, Claudia
Rojas, José Luiis
Molina Giraldo, Saulo
Acuña Osorio, Edgar Mariano
Franco, Alejandro
Galvis, Pablo
Arévalo, Ingrid
dc.subject.spa.fl_str_mv translucencia nucal
cariotipo
síndromes genéticos
anomalías estructurales
screening prenatal
síndrome de Down
topic translucencia nucal
cariotipo
síndromes genéticos
anomalías estructurales
screening prenatal
síndrome de Down
Nuchal translucency
karyotype
genetic syndromes
structural anomalies
prenatal screening
Down syndrome
dc.subject.eng.fl_str_mv Nuchal translucency
karyotype
genetic syndromes
structural anomalies
prenatal screening
Down syndrome
publishDate 2009
dc.date.accessioned.none.fl_str_mv 2009-06-01 00:00:00
2022-02-21T20:37:27Z
dc.date.issued.none.fl_str_mv 2009-06-01
dc.date.available.none.fl_str_mv 2009-06-01 00:00:00
2022-02-21T20:37:27Z
dc.type.spa.fl_str_mv Artículo de revista
dc.type.eng.fl_str_mv Journal article
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https://doi.org/10.31260/RepertMedCir.v18.n2.2009.538
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dc.relation.references.spa.fl_str_mv Alfirevic Z, Sundberg K, Brigham S. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev. 2003; (3):CD003252.
American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 88. Invasive Prenatal testing for aneuploidy. Obstet Gynecol. 2007; 110 (6): 1459-67. 3. Cuckle HS, Wald NJ. Principles of screening. In: Wald NJ, editor. Antenatal and neonatal screening. Oxford: Oxford University Press; 2008. p 1–22.
Gardner RJ, Sutherland GR. Chromosome abnormalities and genetic counseling. 3rd ed. New York : Oxford University Press; 2004.
Milunsky A, Milunsky JM. Genetic counseling: preconception, prenatal, and perinatal. In: Milunsky A, editor. Genetic disorders and the fetus: diagnosis, prevention, and treatment. 5th ed. Baltimore (MD): Johns Hopkins University Press; 2004. p. 1–65.
Reddy UM, Wapner RJ. Comparison of first and second trimester aneuploidy risk assessment. Clin Obstet Gynecol. 2007; 50(2): 442-53.
Egan JF, Benn PA, Zelop CM, et al. Down syndrome births in the United States from 1989 to 2001. Am J Obstet Gynecol. 2004; 191 (3):1044–48.
Nicolaides KH. Screening for chromosomal defects. Ultrasound Obstet Gynecol. 2003; 21 (4): 313-21.
Verdin SM, Whitlow BJ, Lazanakis M, Kadir RA, Chatzipapas I, Economides DL. Ultrasonographic markers for chromosomal abnormalities in women with negative nuchal translucency and second trimester maternal serum biochemistry. Ultrasound Obstet Gynecol. 2000; 16 (5): 402-6.
Shipp TD, Benacerraf BR. Second trimester ultrasound screening for chromosomal abnormalities. Prenat Diagn. 2002; 22 (4): 296–307.
Simpson JL. Prenatal cytogenetic screening. Ultrasound Obstet Gynecol. 1995; 5 (1): 3-5
Saller DN, Canick JA. Current methods of prenatal screening for Down syndrome and other fetal abnormalities. Clin Obstet Gynecol. 2008; 51(1): 24-36
Resta RG. Changing demographics of advanced maternal age (AMA) and the impact on the predicted incidence of Down syndrome in the United States: implications for prenatal screening and genetic counseling. Am J Med Genet. 2005; 133A (1):31-6.
Chorionic villus sampling and amniocentesis: recommendations for prenatal counseling. Centers for Disease Control and Prevention. MMWR Recomm Rep. 1995; 44 (RR-9):1–12.
Seeds W. Diagnostic mid trimester amniocentesis: how safe?. Am J Obstet Gynecol. 2004; 191(2): 607–15.
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):612–16.
American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 77. Screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007; 109 (1): 217–28.
Nicolaides KH, Spencer K, Avgidou K, Faiola S, Falcon O. Multicenter study of first-trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk-orientated twostage first-trimester screening. Ultrasound Obstet Gynecol. 2005; 25 (3): 221–26.
Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM. First and second trimester antenatal screening for Down’s syndrome: the results of the serum, urine and ultrasound screening study (SURUSS). Health Technol Assess. 2003; 7 (11): 1-77.
Borgida AF, Mills AA, Feldman DM, Rodis JF, Egan JF. Outcome of pregnancies complicated by ruptured membranes after genetic amniocentesis. Am J Obstet Gynecol. 2000; 183(4): 937–9.
Cicero S, Curcio P, Papageorghiou A, Sonek J, Nicolaides KH. Absence of nasal bone in fetuseswith trisomy 21 at 11–14 weeks of gestation: an observational study. Lancet. 2001; 358 (9294):1665–67.
Matias A, Gomes C, Flack N, Montenegro N, Nicolaides KH. Screening for chromosomal abnormalities at 11–14 weeks: the role of ductus venosus blood flow. Ultrasound Obstet Gynecol.1998; 12 (6): 380–84.
Huggon IC, DeFigueiredo DB, Allan LD. Tricuspid regurgitation in the diagnosis of chromosomal anomalies in the fetus at 11–14 weeks of gestation. Heart. 2003; 89 (9): 1071–73.
Tabor A, Philip J, Madsen M, et al. Randomised controlled trial of genetic amniocentesis in 4606 lowrisk women. Lancet. 1986; 1 (8493):1287–93.
Ralston SJ, Craigo SD. Ultrasound-guided procedures for prenatal diagnosis and therapy. Obstet Gynecol Clin N Am. 2004; 31 (1) 101–23.
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dc.relation.ispartofjournal.spa.fl_str_mv Revista Repertorio de Medicina y Cirugía
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spelling Alcedo Ramírez, Alezander D.53686c571b0aa6b61e7d680897987a85300Serrano Serrano, Claudia0b08ba08c9e10e30a8798590d82f2c3d300Rojas, José Luiis5271cfbff3ae30821b2f67493bc77bb0300Molina Giraldo, Saulo0e00f1a3be12b988817cebfe96830af5500Acuña Osorio, Edgar Mariano4bfeb967187d5fab16f082c27511c94b500Franco, Alejandro48b5faa806053cd18a5d12bbf9d27e43500Galvis, Pablofda819ca2da347c0d34eac4683b1733fArévalo, Ingridafa925f53f4283d9e18b1d1c012a5e8b5002009-06-01 00:00:002022-02-21T20:37:27Z2009-06-012009-06-01 00:00:002022-02-21T20:37:27ZFundación Universitaria de Ciencias de la SaludFundación Universitaria de Ciencias de la Salud FUCS - 0info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/4.0/http://purl.org/coar/access_right/c_abf2https://revistas.fucsalud.edu.co/index.php/repertorio/article/view/538translucencia nucalcariotiposíndromes genéticosanomalías estructuralesscreening prenatalsíndrome de DownNuchal translucencykaryotypegenetic syndromesstructural anomaliesprenatal screeningDown syndromeIndicaciones de estudio genético invasivo en una población seleccionada: Agosto de 2005 a diciembre de 2007Indications of invasive genetic study in a selected population: August 2005 to December 2007application/pdfArtículo de revistaJournal articlehttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionTexthttp://purl.org/coar/version/c_970fb48d4fbd8a8510.31260/RepertMedCir.v18.n2.2009.5380121-7372https://repositorio.fucsalud.edu.co/handle/001/24322462-991Xhttps://doi.org/10.31260/RepertMedCir.v18.n2.2009.538spaAlfirevic Z, Sundberg K, Brigham S. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev. 2003; (3):CD003252.American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 88. Invasive Prenatal testing for aneuploidy. Obstet Gynecol. 2007; 110 (6): 1459-67. 3. Cuckle HS, Wald NJ. Principles of screening. In: Wald NJ, editor. Antenatal and neonatal screening. Oxford: Oxford University Press; 2008. p 1–22.Gardner RJ, Sutherland GR. Chromosome abnormalities and genetic counseling. 3rd ed. New York : Oxford University Press; 2004.Milunsky A, Milunsky JM. Genetic counseling: preconception, prenatal, and perinatal. In: Milunsky A, editor. Genetic disorders and the fetus: diagnosis, prevention, and treatment. 5th ed. Baltimore (MD): Johns Hopkins University Press; 2004. p. 1–65.Reddy UM, Wapner RJ. Comparison of first and second trimester aneuploidy risk assessment. Clin Obstet Gynecol. 2007; 50(2): 442-53.Egan JF, Benn PA, Zelop CM, et al. Down syndrome births in the United States from 1989 to 2001. Am J Obstet Gynecol. 2004; 191 (3):1044–48.Nicolaides KH. Screening for chromosomal defects. Ultrasound Obstet Gynecol. 2003; 21 (4): 313-21.Verdin SM, Whitlow BJ, Lazanakis M, Kadir RA, Chatzipapas I, Economides DL. Ultrasonographic markers for chromosomal abnormalities in women with negative nuchal translucency and second trimester maternal serum biochemistry. Ultrasound Obstet Gynecol. 2000; 16 (5): 402-6.Shipp TD, Benacerraf BR. Second trimester ultrasound screening for chromosomal abnormalities. Prenat Diagn. 2002; 22 (4): 296–307.Simpson JL. Prenatal cytogenetic screening. Ultrasound Obstet Gynecol. 1995; 5 (1): 3-5Saller DN, Canick JA. Current methods of prenatal screening for Down syndrome and other fetal abnormalities. Clin Obstet Gynecol. 2008; 51(1): 24-36Resta RG. Changing demographics of advanced maternal age (AMA) and the impact on the predicted incidence of Down syndrome in the United States: implications for prenatal screening and genetic counseling. Am J Med Genet. 2005; 133A (1):31-6.Chorionic villus sampling and amniocentesis: recommendations for prenatal counseling. Centers for Disease Control and Prevention. MMWR Recomm Rep. 1995; 44 (RR-9):1–12.Seeds W. Diagnostic mid trimester amniocentesis: how safe?. Am J Obstet Gynecol. 2004; 191(2): 607–15.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):612–16.American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 77. Screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007; 109 (1): 217–28.Nicolaides KH, Spencer K, Avgidou K, Faiola S, Falcon O. Multicenter study of first-trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk-orientated twostage first-trimester screening. Ultrasound Obstet Gynecol. 2005; 25 (3): 221–26.Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM. First and second trimester antenatal screening for Down’s syndrome: the results of the serum, urine and ultrasound screening study (SURUSS). Health Technol Assess. 2003; 7 (11): 1-77.Borgida AF, Mills AA, Feldman DM, Rodis JF, Egan JF. Outcome of pregnancies complicated by ruptured membranes after genetic amniocentesis. Am J Obstet Gynecol. 2000; 183(4): 937–9.Cicero S, Curcio P, Papageorghiou A, Sonek J, Nicolaides KH. Absence of nasal bone in fetuseswith trisomy 21 at 11–14 weeks of gestation: an observational study. Lancet. 2001; 358 (9294):1665–67.Matias A, Gomes C, Flack N, Montenegro N, Nicolaides KH. Screening for chromosomal abnormalities at 11–14 weeks: the role of ductus venosus blood flow. Ultrasound Obstet Gynecol.1998; 12 (6): 380–84.Huggon IC, DeFigueiredo DB, Allan LD. Tricuspid regurgitation in the diagnosis of chromosomal anomalies in the fetus at 11–14 weeks of gestation. Heart. 2003; 89 (9): 1071–73.Tabor A, Philip J, Madsen M, et al. Randomised controlled trial of genetic amniocentesis in 4606 lowrisk women. Lancet. 1986; 1 (8493):1287–93.Ralston SJ, Craigo SD. Ultrasound-guided procedures for prenatal diagnosis and therapy. Obstet Gynecol Clin N Am. 2004; 31 (1) 101–23.https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/538/578Núm. 2 , Año 2009 : Abril - Junio10529718Revista Repertorio de Medicina y CirugíaPublicationOREORE.xmltext/xml2594https://repositorio.fucsalud.edu.co/bitstreams/501e5eb0-5665-40ac-9ce5-15e73f2f9f80/download42edfa53b2597e3dbdf4d3e84adeb791MD51001/2432oai:repositorio.fucsalud.edu.co:001/24322024-02-02 13:11:29.911https://creativecommons.org/licenses/by-nc-sa/4.0/Fundación Universitaria de Ciencias de la Salud FUCS - 0metadata.onlyhttps://repositorio.fucsalud.edu.coRepositorio Digital de la Fundación Universitaria de Ciencias de la Saludredi@fucsalud.edu.co