Diagnóstico prénatal: retrospectiva
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Bernal, L., & López, G. (2014). Diagnóstico prénatal: retrospectiva. NOVA, 12(21). https://doi.org/10.22490/24629448.1838
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Luz Mery Bernal
Greizy López
Resumen
El Diagnóstico Prenatal (DPN) es un conjunto de técnicas destinadas a establecer un diagnóstico fetal aún en el periodo de vida intra-uterina. Está dirigido principalmente a parejas con mayor riesgo de presentar un embarazo de un hijo con una anomalía genética o congénita. Su objetivo fundamental es lograr la identificación de anomalías cromosómicas, malformaciones, enfermedades metabólicas, mendelianas y otras alteraciones eventualmente adquiridas durante la gestación y con repercusiones sobre el feto. El DPN ha sido usado como un método formal de diagnóstico desde hace más de 45 años, pasando por las diferentes fases de su evolución. Esta revisión describe estas fases abordando las realizaciones científicas que permitieron su implementación y mejoramiento continuo.
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NOVA por http://www.unicolmayor.edu.co/publicaciones/index.php/nova se distribuye bajo una Licencia Creative Commons Atribución-NoComercial-SinDerivar 4.0 Internacional.
Así mismo, los autores mantienen sus derechos de propiedad intelectual sobre los artículos.
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DOI: http://dx.doi.org/10.22490/24629448.1838
2. Pinto Jr.W. Diagnóstico pré-natal. Ciencia & Saúde Coletiva. 2002; 7(1):139-157.
3. Castro I. El diagnóstico prenatal de defectos cromosómicos en Costa Rica. Rev. Biol. Trop. 2004; 52 (3): 545-549.
4. Simpson J.L. Invasive procedures for prenatal diagnosis: Any future left? Best. Pract. Res. Clinical. Obstet. Gynaecol. 2012; 26: 625 – 638.
5. Serr D.M., Sachs L, Danon M. Diagnosis of sex before birth using cells from amniotic fluid. Bull. Res. Coundl. Isr.1995; 58:137-138.
6. Fuchs F., Rus P. Antenatal sex determination. Nature. 1956;177:330.
7. James F. Sexing foetuses by examination of amniotic fluid. Lancet.1956; 1:202.
8. Makowski E., Prem K., Kaiser I.H. Detection of Sex of fetuses by the incidence of sex chromatin in nuclei of cells in amniotic fluid. Science.1956;123: 542.
9. Tjio T.H., Levan A. The chromosome number of man. Hereditas. 1956;42:1.
10. Fuchs F., Philip J. Possibility of antenatal examination of fetal chromosome. Nord. Med. 1963; 69:572.
11. Steele M.W., Breg W.R. Chromosome analysis of human amniotic fluid cells. Lancet. 1966;1:383-386.
12. Thiede H.A., Creasman W.T., Metcalfe S. Antenatal analysis of the human chromosomes. Am. J. Obstet. Gynecol. 1966; 94:589.
13. Jacobson C.B., Barter R.H. Intrauterine diagnosis and management of genetic defects. Am. J. Obstet. Gynecol. 1967; 99:796.
14, Valenti C., Schutta E.J., Kehaty T. Prenatal diagnosis of Down’s syndrome. Lancet. 1968; 2:220.
15. Nadler H.L. Antenatal detection of hereditary disorders. Pediatrics. 1968; 42:912.
16. Brock D.J., Stucliffe R.G. Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spine bifida. Lancet. 1972; 2:197.
17. Woo J. A short history of the developments of ultrasound in obstetrics and gynecology. Disponível na Internet. http:// www.ob-ultrasound.net/history.html.2006.
18. Merkatz I.R., Nitowsky H.N., Macri J.N., Johnson W.E. An association between low maternal serum alpha-fetoprotein and fetal chromosome abnormalities. Am. J. Obstet. Gynecol. 1984; 148:886-891.
19. Bogart M.H., Paudian N.R., Jones O.W. Abnormal maternal serum chorionic gonadotropine levels in pregnancies with fetal chromosome abnormalities, Prenat. Diagn.1987; 7:623-630.
20. Wald N.J., Cuckle H.S., Densen J.W. Maternal serum screening for Down’s syndrome in early pregnancy. Br. Med. J.1988; 297:883-887.
21. Canick J.A., Knight G.J., Palomaki G.E., Haddow J.E., Cuckle H.S., Wald N J. Low second trimester maternal serum unconjugated estriol in pregnancies with Down syndrome. Br. J. Obstet. Gynaecol. 1988; 95:330-333.
22. Macintosh M.C., lies R., Teisner B., Sharma K., Chard T., Grudzinskas J.G. Maternal serum human chorionic gonadotrophin and pregnancy-associated plasma protein a markers for fetal Down syndrome at 8-14 weeks. Prenat. Diagn. 1994; 14:203-208.
23. Spencer K. Screening for trisomy 21 in twin pregnancies in the first trimester using free p-hCG and PAPP-A, combined with fetal nuchal translucency thickness. Prenat. Diagn. 2000; 20:91-95.
24. Martín Navas I., López Escribano H. Cribado prenatal de anomalías congénitas: Marcadores y estrategias. Ed. Cont. Lab. Clín. 2007; 11:9-18.
26. Russo M., Blakemore K. A historical and practical review of first trimester aneuploidy screening. Seminars in Fetal & Neonatal Medicine. 2014; 19:183-187.
27. Wald N.J., George L, Smith D., Densem J.W., Petterson K. Serum screening for Down’s syndrome between 8 and 14 weeks of pregnancy. International Prenatal Screening Research Group. Br. J. Obstet. Gynaecol. 1996; 103:407-412.
28. Haddow J.E., Palomaki G.E., Knight G.J., Foster D.L., Neveux L.M. Second trimester screening for Down’s syndrome using maternal serum dimeric inhibin. A.J Med. Screen. 1998; 5:115-119.
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DOI: http://dx.doi.org/10.22490/24629448.1838
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