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Diagnóstico prénatal: retrospectiva

Diagnóstico prénatal: retrospectiva




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Bernal, L. M., & 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

      Prenatal diagnosis is a set of techniques intended to establish a fetal diagnosis even in the period of intrauterine life. It is aimed primarily at couples with higher risk of having a genetic or congenital abnormal pregnancy. Its basic aim is to ensure the identification of chromosomal anomalies, malformations, metabolic and Mendelian diseases, and other alterations eventually acquired during pregnancy which have an impact on the fetus.Prenatal diagnosis has been used as a formal diagnosis method for more than 45 years, going through the various stages of its evolution. This text revises these phases by addressing the scientific and technological developments that have led to its implementation and continuous improvement.

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      1. Milunsky A. Genetic Disorders and The fetus: Diagnosis, Pre­vention and Treatment. Johns Hopkins University Press.1992; 3th Ed. Baltimore.
      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.
      25. Russo M., Blakemore K. A historical and practical review of first trimester aneuploidy screening. Seminars in Fetal & Neo­natal Medicine. 2014; 19:183-187.
      26. 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.
      27. 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.
      28. Jones K.L. Smith’s recognizable patterns of human malforma­tion. WB Saunders.1998; 4th ed. London.
      29. Nicolaides K.H., Azar G., Byrne D., Mansur C., Marks K. Fetal nuchal translucency: Ultrasound screening for chromo­somal defects in first trimester of pregnancy. Br. Med. J. 1992; 304:867-869.
      30. Johnson M.P., Johnson A., Holzgreve W. First trimester simple hygroma: Cause and outcome. Am. J. Obstet. Gynecol. 1993; 161:156-161.
      31. Snijders R.J., Johnson S., Sebire N.J., Noble P.L, Nicolaides K.H. First-trimester ultrasound screening for chromosomal de­fects. Ultrasound. Obstet Gynecol.1996; 7:216-226.
      32. Brambati B., Cislaghi C., Tului L. First trimester Down’s syn­drome screening using nuchal translucency: A prospective study in patients undergoing chorionis villus sampling. Ultra­sound. Obstet. Gynecol. 1995; 5:9-14.
      33. Nicolaides K.H., Snijders R.J., Cuckle H.S. Correct estimation of parameters for ultrasound nuchal translucency screening. Prenat. Diagn., 1998; 18: 519-523.
      34. De Biasio P., Siccardi M., Volpe G., Famularo L., Santi F., Ca­nini S. First-trimester screening for Down syndrome using nu­chal translucency measurement with free beta-hCG and PAPP-A between 10 and 13 weeks of pregnancy-the combined test. Prenat Diagn. 1999; 19:360-363.
      35. Sabría J., Cabrero D., Aleixandre R.N., Vila I., Bach C. Cri­bajes bioquímico y bioquímico-ecográfico de las cromosomo­patías en el primer trimestre. Falsos positivos. Prog. Diagn. Prenat., 1999; 11(1):20-26.
      36. Krantz D.A., Hallahan T.W., Orlandi F., Buchanan P., Larsen J.W., Macri J.N. First trimester Down syndrome screening using dried blood biochemistry and nuchal translucency. Obs­tet. Gynecol.2000; 96:207-213.
      37. Wapner R., Thom E., Simpson J.L., Pergament E., Silver R., Filkins K., et al. First Trimester Maternal Serum Biochemis­try and Fetal Nuchal Translucency Screening (BUN) Study Group. First-trimester screening for trisomies 21 and 18. N. Engl. J. Med. 2003;349:1405–1413.
      38. Gupta G.K., Bianchi D.W. Diagnóstico do DNA para o obs­tetra practicante. In: Clínicas Obstétricas e Ginecológicas da América do Norte. Diagnóstico e Tratamento Fetal. Reece E.A. Interlivros. Rio de Janeiro. 1997; (1).
      39. Sheth F., Sheth H., Pritti K., Tewari S., Desai M., Patel B., and Sheth J. Evolution of Cytogenetics in Disease Diagnosis. J. Transl. Toxicol.2014; 1(1):3-9.
      40. Bianchi D.W., Flint A.F., Pizzimenti M.F., Knoll J.H., Latt S.A. Isolation of fetal DNA from nucleated erytrocytes in ma­ternal blood. Proc. Natl. Acad. Sci. 1990; 87(9):3279-3283.
      41. Simpson J.L. Isolating fetal cells in maternal circulation for prenatal diagnosis. Prenat. Diagn.1994; 14:1229-1242.
      42. Mieke W.J., Jansen C., Lindern M., Beug H., Brandenburg H., Wildschut H.I., Wladimiroff J.W., Veld P.A. The use of in vitro expanded erythroid cells in a model system for the isola­tion of fetal cells from maternal blood. Prenat. Diagn. 1999; 19:323-329.
      43. Bianchi DW. Fetomaternal cell traffic, pregnancy-associated progenitor cells, and autoimmune disease. Best. Pract. Res. Clin. Obstet. Gynaecol. 2004; 18(6):959-975.
      44. Silveira Ramos E. DNA livre fetal em plasma materno e diag­nóstico pré-natal não invasivo. Ver. Latino-am. Enfermagem. 2006; 14(6).
      45. Carrera M., Boada M., De la Iglesia C., Barri P.N., Veiga A. Avances en diagnóstico citogenético preimplantacional. Prog. Diagn. Prenat. 1998; 10(3):123-133.
      46. Wells D., Kaur K., Grifo J., Glassner M., Taylor J., Fragouli E., Munne S. Clinical utilization of a rapid low-pass whole ge­nome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation. J. Med. Genet.2014; 51:553–562.
      47. Handyside A.H. Clinical evaluation of preimplantation gene­tic diagnosis. Prenat. Diagn.1998;18:1345-1348.
      48. Wells D., Sherlock J.K.Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification. Pre­nat. Diagn. 1998;18:1389-1401.
      49. Stern HJ. Preimplantation Genetic Diagnosis: Prenatal Tes­ting for Embryos Finally Achieving Its Potential. J. Clin. Med.2014; 3:280-309.
      50. Munné S., Magli C., Bahce M., Fung J., Legator M., Morri­son L, Cohert J., Gianaroli L. Preimplantation diagnosis of the aneuploidies most commonly found in spontaneous abortions and live births: XY, 13, 14, 15, 16, 18, 21, 22. Prenat. Diagn. 1998; 18:1459-1466.
      51. Carrera M., Boada M., De la Iglesia C., Barri P.N., Veiga A. Análisis citogenético en embriones preimplantacionales huma­nos. Prog. Diagn. Prenat. 1999; 11(1):9-19.
      52. Ulli H., Weier G., Fung J., Dandekar P., Hyun W., Peder­sen R.A. Spectral imaging in preconception/preimplantation genetic diagnosis (PGD) of aneuploidy: Multicolor, multi-chromosome screening of single cells. J. Assist. Reprod. Ge­net.1997; 55:150-159.
      53. Munné S., Márquez C., Janish C. Use of spectral image analy­sis for chromosome enumeration in polar bodies, oocytes and metaphase-stage blastomeres. J. Assist. Reprod. Genet.1997; 14:459-464.
      54. Wells D., Sherlock J.K., Handyside A., Adinolfi M., Delhanty J. Whole genome amplification, quantitative fluorescent PCR, and comparative genomic hybridization (CGH) in single cell. J. Assist. Reprod. Genet.1997; 14:479-87.
      55. Rodríguez-Santiago B., Armengol L. Tecnologías de secuen­ciación de nueva generación en diagnóstico genético pre- y postnatal. Diagn. Prenat. 2012; 23(2):56-66.
      56. Evans M.I., Johnson M.P., Holzgreve W. Early amniocentesis: What exactly does it mean?. J. Reprod. Med. 1994; 39(2):77-78.
      57. Brumfield C.G., Lin S., Conner W., Cosper P., Davis R.O., Owen J. Pregnancy outcome following genetic amniocentesis at 11-14 versus 16-19 weeks gestation. Obstet. Gynecol.1996; 88(1): 114-118.
      58. Johnson J.M., Wilson R.D., Winsor E.J., Singer J., Dansereau J., Kalousek D.K. The Early Amniocentesis Study: A rando­mized clinical trial of early amniocentesis versus midtrimester amniocentesis. Fetal. Diagn. Ther.1996; 11:85-93.
      59. Eiben B., Hammans W., Hansen S., Trawicki W., Osthelder B., Stelzer A., Jaspers K.D., Goebel R. On the complication risk of Early Amniocentesis versus Standard Amniocentesis. Fetal. Diagn. Ther. 1997;12: 140-144.
      60. Sundberg K., Bang J., Smidt-Jensen S., Brocks V., Lundsteen C., Parner J., Keiding N., Philip J. Randomised study of risk of fetal loss related to early amniocentesis versus chorionic vi­llus sampling. Lancet.1997; 350:697-703.
      61. Nicolaides K.H., Brizot M.L, Patel F, Snijders RJ. Compa­rison of Chorion Villus Sampling and Early Amniocentesis for karyotyping in 1492 singleton pregnancies. Fetal. Diagn. Ther.1996; 11:9-15.
      62. Cederholm M., Axelsson O. A prospective comparative study on transabdominal chorionic villus sampling and amniocente­sis performed at 10-13 weeks gestation. Prenat. Diagn.1997; 17(4):311-317.
      63. Daniel A., NG A., Kuah K.B., Reina S., Malafiej P. A study of early amniocentesis for prenatal cytogenetic diagnosis. Prenat. Diagn.1998; 18(1):21-28.
      64. Tharmaratnam S., Sadek S., Steele E.K., Harper M.A., Stewart F.J., Nevin J., Nevin N.C., Doman J.C.Early amniocentesis: Effect of removing a reduced volume of amniotic fluid on pregnancy outcome. Prenat. Diagn. 1998; 18:773-778.
      65. Rezende J. Obstetrícia. 6a Edição. Editora Guanabara Koo­gan. Rio de Janeiro.1992.
      66. Bevis D.C.A. The antenatal prediction of hemolytic disease of the newborn. Lancet. 1956;1:395.
      67. Jacobson C.B., Barter R.H. Intrauterine diagnosis and ma­nagement of genetic defects. Am. J. Obstet. Gynecol. 1967; 99:796.
      68. Valenti C., Schutta E.J., Kehaty T. Prenatal diagnosis of Down’s syndrome. Lancet.1968; 2:220.
      69. Nadler H.L. Antenatal detection of hereditary disorders. Pe­diatrics. 1998; 42:912.
      70. Nadler H.L., Gerbie A.B. Role of amniocentesis in the intra­uterine detection of genetic disorders. N. Engl. J. Med.1970; 282:596.
      71. Littlefield J.W. The pregnancy at risk for a genetic disorder. N. Engl. J. Med.1970; 282:627.
      72. Carrera J.M. Diagnóstico Prenatal: Genética. Ecografía. Bioquímica y Medicina Fetal. Salvat Editores. Barcelona. 1987.
      73. Rosas A. Fisiologia do Sistema Amniótico. In: Delascio D., Guariente A. obstetrícia. Ginecologia. Neonatologia. Sarvier. São Paulo. 1984.
      74. Elejalde B.R., de Elejalde M.M., Acuna J.A., Thelen D., Tru­jillo C., Karrmann M. Prospective study of amniocentesis per­formed between weeks 9 and 16 of gestation: Its feasibility, risks, complications and use in early genetic prenatal diagnosis. Am. J. Med. Genet.1990; 35:188-196.
      75. Tejada M.l. Citogenética del líquido amniótico. Posibilidades técnicas, eficiencia y aspectos controvertidos. Prog. Diagn. Pre­nat.1994; 6(2):105-118.
      76. Evans M.I., Drugan A., Koppitch F.C., Zador I.E., Sacks A.J., Sokol R.J. Genetic diagnosis in the first trimester: The norm for the 1990s. Am. J. Obstet. Gynecol. 1989, 160:1332-1339.
      77. Stripparo L, Buscaglia M., Longatti L, Ghisoni L, Dambro­sio F., Guemeri S., Rosella F., Lituania M., Cordones M., De Biasio P., Passamonti U., Gimelli G., Cuoco C. Genetic am­niocentesis: 505 cases performed before the sixteenth week of gestation. Prenat. Diagn.1990; 10: 359-364
      78. Rebello M.T., Gray C.T., Rooney D.E., Smith J.H., Hackett G.A., Loeffler F.E., Horwell D.H., Beard R.W., Coleman D.V. Cytogenetic studies of amniotic fluid taken before the 15th week of pregnancy for earlier prenatal. Prenat. Diagn.1991; 11:35-40.
      79. Bauk F., Morón A., Novo N., Juliano E., Rodrigues L, Kulay Jr. Estudo comparativo das dosagens de sódio, potássio, uréia, crea­tinina e ácido úrico no líquido amniótico entre 15-20 semanas e 38-42 semanas. Rev. Ass. Med. Brasil. 1996;42(1):7-10.
      80. Saito M., Silva L.A., Isfer E.U. Biologia do líquido amnióti­co. Parte II. In: Isfer E.V., Sanchez R.C., Saito M. Medicina Fetal. Diagnóstico Pré-natal e Conduta. Editora Revinter. Rio de Janeiro,1996.
      81. Torricelli F., Brizzi L., Bernabei P., Gheri G., Di Lollo S., Nutini L, Lisi E., Di Tommaso M., Cariati E. Identification of hematopoietic progenitor cells in human amniotic fluid be­fore the 12th week of gestation. It. J. Anat. Embryol. 1993; 98(2):119-126.
      82. Hoehn H., Bryant E.M., Karp LE., Martin G.M.Cultivated cell from diagnostic amniocentesis in second trimester preg­nancies. I. Clonal morphology and growth potential. Pediat. Res.1974; 8:746-754.
      83. Schrage R., Bogelspacher H., Wurster K. Amniotic fluid cells in the second trimester of pregnancy. Acta. Cytol.1982; 26:407.
      84. Gosden C. Amniotic fluid cell types and culture. Britsh. Medi­cal. Bulletin.1983; 39(4):348-354.
      85. Bernal L.M. Evaluación de la amniocentesis precoz en una institución brasileña de diagnóstico prenatal. NOVA.2011; 10(17):11-24.
      86. Wilson R.D. Early Amniocentesis: A Clinical Review. Prenat. Diagn.1995;15:1259-1273.
      87. Reece E.A. Amniocentese genética precoce e nos trimestres in­termediarios. Segurança e resultados. In: Clínicas Obstétricas e Ginecológicas da América do Norte. Diagnóstico e Tratamen­to Fetal. Reece E.A. Interlivros. Rio de Janeiro. 1997; 1.
      88. Crespigny L, Robinson H.P., Ngu A. Pain with amniocentesis and transabdominal CVS. Aust. N. Z. Obstet Gynecol. 1990; 30(4):308-309.
      89. Dorfer M., Hausler M., Kainer F. Psychological aspects of pain experience in amniocentesis. Wien. Klin. Wochenschr. 1998; 110(18):642-645.
      90. Simpson N., Dallaire L, Miller J., Siminovich L, Hammner­ton J., Miller J., McKeen C. Prenatal diagnosis of genetic di­sease of Canada; report of a collaborative study. Can. Med. Ass. J. 1976; 115:739-745.
      91. Aula P., Karjalinen O., Terano N., Vaara L, Seppala M. Safety and accuracy of midtrimester amniocentesis for prenatal diag­nosis of genetic disorders. Ann. Clin. Res.1979;11: 156-159.
      92. Harrison R., Campbell S., Craft I. Risks of fetomaternal he­morrhage resulting from amniocentesis with and without pla­cental localization. Obstet. Gynecol.1975; 46:389.
      93. Mennuti M., Brummond W., Criombleholme W., Shwartz R. Fetal maternal bleeding associated with genetic amniocentesis. Obstet. Gynecol.1980; 55:48.
      94. Hills J., Reindollar R., Mc Dondungh P. Ultrasonic placen­ta localization in relation to spontaneus abortion after mid-trimester amniocentesis. Prenat. Diagn.1982; 2(4):289-292.
      95. Crane J., Kopta M. Genetic amniocentesis: Impact of placen­tal position upon the risk of pregnancy loss. Am. J. Obstet Gynecol.1984; 150:813-816.
      96. Bombard A., Powers J., Carter S. Procedure related fetal los­ses in transplacental versus nontransplacental genetic amnio­centesis. Am. J. Obstet. Gynecol. 1995; 172:868-872.
      97. Zolnierczyk P., Raczynski A., Lisawa J., Chazan B. Early am­niocentesis transplacental needle passage safer than nontrans­placental?. Acta. Obstet. Gynecol. Scand. Supplement. 1997; 76(167):51.
      98. Tharmaratnam S., Sadek S., Steele E.K., Harper M.A., Ne­vin N.C., Doman J.C. Transplacental early amniocente­sis and pregnancy outcome. Br. J. Obstet. Gynaecol.1998; 105(2):228-230.
      99. Hahneman N., Mohr J. Genetic diagnosis in the embryo by means of biopsy from extra-embryonic membrane. Bull. Eur. Soc. Hum. Genet. 1968; 2:23-29.
      100. Gollop T.R., Naccache N.F., De Campos I.M., Pieri P.C. Amostra de Vilo Corial: 1290 casos. Rev. Bras. Ginecol. Obs­tet. 1993; 15(2):84-87.
      101. Kalousek D.K., Dill J.F., Pantzar T., McGillivray B.C., Young S.L, Wilson R.D. Confined chrorionic mosaicism in prenatal diagnosis. Hum. Genet.1987; 77:163-167.
      102. Leschot N.J., Schuring-Blom G.H., Van Prooijen-Knegt A.C., Verjaal M., Hansson K., Wolf H., Kanhai H.H., Van Vugt J.M., Christiaens G.C. The outcome of pregnancies with confined placental chromosome mosaicism in cytotro­phoblast cells. Prenat. Diagn.1996; 16:705-712.
      103. Tabor A., Alfirevik Z. Update on procedure-related risks for prenatal diagnostic techniques. Fetal. Diagn. Ther.2010; 27:1-7.
      104. Bui T.H., Iselius L., Lindsten J. European collaborative stu­dy on prenatal diagnosis: mosaicism, pseudomosaicism and single abnormal cell in amniotic fluid cell cultures. Prenat Diagn., (Special issue). 1984; 4:145-162.
      105. Hsu L.Y.F., Yu M.T, Richkind K.E., Van Dyke D.L, Crandall B.F., Saxe D.F., Khodr G.S., Mennuti M., Stetten G., Miller W.A., Priest J.H. Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: A collaborative study. Prenat. Diagn.1996; 16:1-28;
      106. Verma R., Kleyman S., Conte R. Chromosomal mosaicisms during prenatal diagnosis. Gynecol. Obstet. Invest.1998; 45:12-15.
      107. Lippmann A., Tomkins D.J., Shine J. Canadian multicen­ter randomized clinical trial of chorionic villus sampling and amniocentesis (final report). On behalf of the Canadian co­llaborative CVS-amniocentesis clinical trial group. Prenat. Diagn.1992; 12:385-476.
      108. Sousa A., Anderson J., Cerveira I., Castedo S., Pereira S. Chorionic Villus Sampling in Hospital S. Teotónio Fetal Medicine Unit. Acta. Obstet. Ginecol. Port.2012; 6(1):8-12.
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      110. DOI: http://dx.doi.org/10.22490/24629448.1838
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