Diagnóstico Prenatal de las Enfermedades Hereditarias
Resumen
La utilización de la amniocentesis y del líquido amniótico para el estudio genético y cito genético fetal es relativamente nuevo. Los primeros trabajos sobre cultivos celulares y estudios cito genéticos sobre liquido amniótico son descritos por Tuner y Cois. (40), Steele y Breg (37) y Thiede y Cois. (41). El diagnóstico prenatal de enfermedades metabólicas se inicia con Nadler y Cois (23) y en la actualidad existen técnicas de diagnostico
para aproximadamente 100 enfermedades. El advenimiento de la dosificación de alfafetoproteina y de acetilcolinesterasa permiten el diagnostico de defectos de cierre de tubo neural (2). Sin embargo, todo este desarrollo a nivel genético no hubiera sido posible sin contar con otros medios físicos de diagnóstico como son el ultrasonido, electrocardiografía fetal y fetoscopia.
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1. A L LA N , L.D., FERG U SO N—SMITH, M.A.,DONALD, I., SWEET, E.M. and GIBSON, A.A.M.: Amniotic fluid alpha—feto—protein in the antenatal diagnosis of spiná bifida: Lancet, 2, 522, 1973.
2. BROCK, D.J.H. and SUTCLIFFE, R.G.: Alphafetoprotein in the antenatal diagnosis of anencephaly and spina bifida; Lancet, 2, 197,1972.
3. BROCK, D.J.H.: Communication of International Symposium "Towards the prevention of fetal malformations" Edinburgh, 1977.
4. BROCK, D.H.J.: Early diagnosis of fetal defects. Curchill Livingstone, 1982. Edinburgh.
5. CAMPBELL,'S. and RODECK, C.: The role of ultrasound and fetoscopy in the diagnosis on the neural tube defects and other abnormalities. In: Jordán J.A., Symonds, E.M. (eds). Diagnosis and management of neural
tube defects. Royal College of Óbstetricians and Gynecologists. London.
6. CARR, D.H.: Chromosome abnormalities and spontaneous abortions. In: Jacobs, P.A., Price, W.H. and Law, P. (eds). Human Population Cytogenetics. Edinburgh University Press, 1970.
7. CHUFF, J.W., Pl LOWSKY, P.M.,SPRINWELL,H.J.: Acetylcholinesterase in human amniotic fluid: an index of fetal neural development. Lancet: 1, 688, 1979.
8. COFFEY, V.P. and JESSOP, W. J.: Study of 137 cases of anencephaly. Brit. J. Prev. Soc. ft/led., 2, 74, 1957.
9. CREASY, M.R. and CROLLA, J.A.: Prenatal mortality of trisomy 21. Lancet, 1,473,1974.
10. GALJAARD, H.: Genetic metabolic diseases. Elsevier North Holland Biomedical Press. 1980.
11. GOTTESFELD, K. R., THOMPSON, H. E„ HOLMES, J. H.and TAYLOR,E.S.: Ultrasonic placentography: a new method for placental localization. Amer. J. Obstet. Gynecol., 96, 538,1966.
12. HADDOW, J. E., MORIN, I.E., HALMAN, M. S.: Acetylcholinesterase and fetal malformations: modified qualitative technique for diagnosis of neural tube defects. Clinical Chemistry, 27,61,1981.
13. HAGARD, S. and CARTER, F.A.: Preventing the birth of infants with Down's Syndrome: a cost benefit analysis. Brit. Med. J. 1, 753, 1976,
14. HAMERTON, J. L.: Prenatal Diagnosis of genetic diseases chromosome abnormalities. A review of two collaborative studies. Communication to International Congress of Medical Genetics. México City, 1976.
15. HSU, L. Y., DUBIN, E.C., K ER EN Y I, T. and HIRSCHHORN, K.: Results and pitfalls in prenatal cytogenetic diagnosis. J. Med. Genet. 10, 112, 1973.
16. KABACK, M. M„ LEISTI, J. T. and LEVINE, M.D.: Diagnóstico genético prenatal. En: Enfermedades Genéticas y Endocrinas de la Infancia y de la adolescencia. Gardner, L. I. Barcelona, Salvat editores, 1982, Cap.
23, 1351.
17. KOENIGSBERG, M. and FOCTOR, S.:Marfan Syndrome: prenatal ultrasound diagnosis with pathological confirmation of Skeletal and Aortic Lesión. Prenatal diagnosis, 1, 241,1981.
18. LIE, S. O., SCHOFIELD, B. H„ T A Y LO R, H. A. Jr and DOTY, S. B.: Structure and function of the lysosomes of human fibroblasts in culture: dependencé on médium pH. Pediatr. Res., 7: 13,1973.
19. LUBS, H.A. and RUDDLE, F. H.: Chromosomal problems ¡n intrauterine diagnosis. Birth Defects: Original Article series, 5, 10, 1971.
20. McKUSICK, V.A.: Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive and X— Linked phenotypes.5th. edition. The Johns Hopkins Hospital University Press, Baltimore, 1978.
21. M ILU N SK Y , A.: The Prenatal Diagnosis of Hereditary Disorders. Springfield, 111. Charles, C. Thomas, 1973.
22. MUKHERJEE, A. B„ BLATTNER, P. Y. and NITOWSKY, N. H.: Quinacrine mustard fluorescence of sex chromatin in human amniotic fluid cell cultures. Nature, 325, 266,1972.
23. NA DLER , H. L.: Antenatal detection of hereditary disorders. Pediatrics, 42, 912, 1968.
24. NEEL, J. V.: A study of major congenital defects in japanesse infants. Amer. J. Hum. Genet., 10, 398,1958.
25. N IE R M E IJ E R , M. F„ SACHS, E. S., JAHODONA, M., T ICH E LA A R K L E P P ER , C„ KLEIJER, W. J. and GALJAARD, H.: Prenatal diagnosis of genetic disorders. J. Med. Genet., 13,182,1976.
26. ORIOLI, I. e C A ST IL LA , E.: Frequencia de Anencefalia, Espinha Bífida e Cefalacele em Cidades SuI—Americanas. 34a. Reuniao Anual da Sociedade Brasileira para o Progreso Da Ciencia. Resumos, 721, Campinas, 1982.
27. PABOR, A., BANG, J.: 45, X Karyotype may the diagnosis by suscept on Ultrasonic Examination in second trimester of pregnancy. Prenatal Diagnosis, 1281, 1.281.
28. PERSAUD, T. V. N.: Genetic Disorders, Syndromology, and Prenatal Diagnosis, MTP Press limited. 1982. England.
29. POLANI, P. E. A LB ERM AN , E., B ER R Y , A. C„ BLUNT, S. and SINGER, J. D.: Chromosome abnormalities and maternal age. Lancet, 2, 516, 1976.
30. RAMOS, C„ D IA Z RECASENS, J„ AYUSO, C., PALOMINO, P.: Diagnóstico prenatal.Bol. Fund. J. D. 10, 1,1983.
31. RENWICK, J. H. and BOLLING, D. R.: An analysis procedure ilustrated on a triple linkage of use for prenatal diagnosis of myotonic dystrophy. J. Med. Genet., 8,399,1971.
32. SCHMID, W. and M U H LETH ALER, J. P.: High amniotic fluid alpha—F—protein in a case of fetal sacrrococcygeal teratoma.Hum. Genet. 26, 353,1975.
33. SAN CH E Z -C A SCO S , A.: Manual de Genética Médica. 1981. Editorial Intermédica. Barcelona.
34. SEPPALA, M„ AULA, P., RAPOLA, J„K A R JA LA IN EN , O., HUTTUNEN, N. P. and RUOSLAHTI, E.: Congenital nephrotic syndrome: prenatal diagnosis in genetic counselling by estimation of amniotic fluid and maternal serum alpha—fetoprotein. Lancet, 2 ,123,1976.
35. SIGGERS, D. C.: Prenatal diagnosis of genetic Disease. London, Blackwell Scientific Publications, 1978.
36. SMITH, A. D„ WALD, N. J„ CUCKLE, H. S.: Amniotic fluid, Acetulcholinesterase as a possible diagnostic test for neural tuve defects in early pregnancy. Lancet 1, 685, 1979.
37. STE ELE, M. W. and BREG, W. R.: Chromosome analysis of human amniotic fluid cells. Lancet, 1, 383,1966.
38. STU H ER LAN D , G. R., G A RD IN ER , A. J.,CAR T ER , R. F.: Familial pericentric inversión of chromosome 19 with a note on genetic counselling of pericentric inversión carriers. Clin. Genet. 10,54,1976.
39. THE NICHD N A T IO N A L R EGISTRY FOR AM N IO C EN T E S IS STU DY GROUP:Midtrimester amniocentesis for prenatal diagnosis. Safety and occurqcy. J. Amer. Ass. 236, 1471, 1976.
40. TURNER, S. H., HUTCHINSON, D. L. and CHARLES, D.: Chromosomal studies of the intrauterine human fetus. (Abst.) Proc. 3rd. Int. Congr. Hum. Genet. Chicago,1966.
41. THIEDE, H. A., C R EASMAN, W. T„ M ETCALFE, S.: Antenatal analysis of the human chromosomes. Amer. J. Obstet. Gynecol, 94, 589, 1966.
42. UCHIDA, I. A.: Epidemiology of mongolism: The Manitoba Study. Ann. IM. Y. Acad. Sci. 171,361, 1970.
43. ER IC K SO N , J. D. and H ER K ED A LT , B.: Down's Syndrome Associated with Fathers Age in Norway. Journal of Medical Genetic. 18,22, 1981.
44. Maclntyre, N. M.: Chromosomal problems in Intrauterine Diagnosis. Birth Defects: Original Article Series, 5, 19,1971.
2. BROCK, D.J.H. and SUTCLIFFE, R.G.: Alphafetoprotein in the antenatal diagnosis of anencephaly and spina bifida; Lancet, 2, 197,1972.
3. BROCK, D.J.H.: Communication of International Symposium "Towards the prevention of fetal malformations" Edinburgh, 1977.
4. BROCK, D.H.J.: Early diagnosis of fetal defects. Curchill Livingstone, 1982. Edinburgh.
5. CAMPBELL,'S. and RODECK, C.: The role of ultrasound and fetoscopy in the diagnosis on the neural tube defects and other abnormalities. In: Jordán J.A., Symonds, E.M. (eds). Diagnosis and management of neural
tube defects. Royal College of Óbstetricians and Gynecologists. London.
6. CARR, D.H.: Chromosome abnormalities and spontaneous abortions. In: Jacobs, P.A., Price, W.H. and Law, P. (eds). Human Population Cytogenetics. Edinburgh University Press, 1970.
7. CHUFF, J.W., Pl LOWSKY, P.M.,SPRINWELL,H.J.: Acetylcholinesterase in human amniotic fluid: an index of fetal neural development. Lancet: 1, 688, 1979.
8. COFFEY, V.P. and JESSOP, W. J.: Study of 137 cases of anencephaly. Brit. J. Prev. Soc. ft/led., 2, 74, 1957.
9. CREASY, M.R. and CROLLA, J.A.: Prenatal mortality of trisomy 21. Lancet, 1,473,1974.
10. GALJAARD, H.: Genetic metabolic diseases. Elsevier North Holland Biomedical Press. 1980.
11. GOTTESFELD, K. R., THOMPSON, H. E„ HOLMES, J. H.and TAYLOR,E.S.: Ultrasonic placentography: a new method for placental localization. Amer. J. Obstet. Gynecol., 96, 538,1966.
12. HADDOW, J. E., MORIN, I.E., HALMAN, M. S.: Acetylcholinesterase and fetal malformations: modified qualitative technique for diagnosis of neural tube defects. Clinical Chemistry, 27,61,1981.
13. HAGARD, S. and CARTER, F.A.: Preventing the birth of infants with Down's Syndrome: a cost benefit analysis. Brit. Med. J. 1, 753, 1976,
14. HAMERTON, J. L.: Prenatal Diagnosis of genetic diseases chromosome abnormalities. A review of two collaborative studies. Communication to International Congress of Medical Genetics. México City, 1976.
15. HSU, L. Y., DUBIN, E.C., K ER EN Y I, T. and HIRSCHHORN, K.: Results and pitfalls in prenatal cytogenetic diagnosis. J. Med. Genet. 10, 112, 1973.
16. KABACK, M. M„ LEISTI, J. T. and LEVINE, M.D.: Diagnóstico genético prenatal. En: Enfermedades Genéticas y Endocrinas de la Infancia y de la adolescencia. Gardner, L. I. Barcelona, Salvat editores, 1982, Cap.
23, 1351.
17. KOENIGSBERG, M. and FOCTOR, S.:Marfan Syndrome: prenatal ultrasound diagnosis with pathological confirmation of Skeletal and Aortic Lesión. Prenatal diagnosis, 1, 241,1981.
18. LIE, S. O., SCHOFIELD, B. H„ T A Y LO R, H. A. Jr and DOTY, S. B.: Structure and function of the lysosomes of human fibroblasts in culture: dependencé on médium pH. Pediatr. Res., 7: 13,1973.
19. LUBS, H.A. and RUDDLE, F. H.: Chromosomal problems ¡n intrauterine diagnosis. Birth Defects: Original Article series, 5, 10, 1971.
20. McKUSICK, V.A.: Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive and X— Linked phenotypes.5th. edition. The Johns Hopkins Hospital University Press, Baltimore, 1978.
21. M ILU N SK Y , A.: The Prenatal Diagnosis of Hereditary Disorders. Springfield, 111. Charles, C. Thomas, 1973.
22. MUKHERJEE, A. B„ BLATTNER, P. Y. and NITOWSKY, N. H.: Quinacrine mustard fluorescence of sex chromatin in human amniotic fluid cell cultures. Nature, 325, 266,1972.
23. NA DLER , H. L.: Antenatal detection of hereditary disorders. Pediatrics, 42, 912, 1968.
24. NEEL, J. V.: A study of major congenital defects in japanesse infants. Amer. J. Hum. Genet., 10, 398,1958.
25. N IE R M E IJ E R , M. F„ SACHS, E. S., JAHODONA, M., T ICH E LA A R K L E P P ER , C„ KLEIJER, W. J. and GALJAARD, H.: Prenatal diagnosis of genetic disorders. J. Med. Genet., 13,182,1976.
26. ORIOLI, I. e C A ST IL LA , E.: Frequencia de Anencefalia, Espinha Bífida e Cefalacele em Cidades SuI—Americanas. 34a. Reuniao Anual da Sociedade Brasileira para o Progreso Da Ciencia. Resumos, 721, Campinas, 1982.
27. PABOR, A., BANG, J.: 45, X Karyotype may the diagnosis by suscept on Ultrasonic Examination in second trimester of pregnancy. Prenatal Diagnosis, 1281, 1.281.
28. PERSAUD, T. V. N.: Genetic Disorders, Syndromology, and Prenatal Diagnosis, MTP Press limited. 1982. England.
29. POLANI, P. E. A LB ERM AN , E., B ER R Y , A. C„ BLUNT, S. and SINGER, J. D.: Chromosome abnormalities and maternal age. Lancet, 2, 516, 1976.
30. RAMOS, C„ D IA Z RECASENS, J„ AYUSO, C., PALOMINO, P.: Diagnóstico prenatal.Bol. Fund. J. D. 10, 1,1983.
31. RENWICK, J. H. and BOLLING, D. R.: An analysis procedure ilustrated on a triple linkage of use for prenatal diagnosis of myotonic dystrophy. J. Med. Genet., 8,399,1971.
32. SCHMID, W. and M U H LETH ALER, J. P.: High amniotic fluid alpha—F—protein in a case of fetal sacrrococcygeal teratoma.Hum. Genet. 26, 353,1975.
33. SAN CH E Z -C A SCO S , A.: Manual de Genética Médica. 1981. Editorial Intermédica. Barcelona.
34. SEPPALA, M„ AULA, P., RAPOLA, J„K A R JA LA IN EN , O., HUTTUNEN, N. P. and RUOSLAHTI, E.: Congenital nephrotic syndrome: prenatal diagnosis in genetic counselling by estimation of amniotic fluid and maternal serum alpha—fetoprotein. Lancet, 2 ,123,1976.
35. SIGGERS, D. C.: Prenatal diagnosis of genetic Disease. London, Blackwell Scientific Publications, 1978.
36. SMITH, A. D„ WALD, N. J„ CUCKLE, H. S.: Amniotic fluid, Acetulcholinesterase as a possible diagnostic test for neural tuve defects in early pregnancy. Lancet 1, 685, 1979.
37. STE ELE, M. W. and BREG, W. R.: Chromosome analysis of human amniotic fluid cells. Lancet, 1, 383,1966.
38. STU H ER LAN D , G. R., G A RD IN ER , A. J.,CAR T ER , R. F.: Familial pericentric inversión of chromosome 19 with a note on genetic counselling of pericentric inversión carriers. Clin. Genet. 10,54,1976.
39. THE NICHD N A T IO N A L R EGISTRY FOR AM N IO C EN T E S IS STU DY GROUP:Midtrimester amniocentesis for prenatal diagnosis. Safety and occurqcy. J. Amer. Ass. 236, 1471, 1976.
40. TURNER, S. H., HUTCHINSON, D. L. and CHARLES, D.: Chromosomal studies of the intrauterine human fetus. (Abst.) Proc. 3rd. Int. Congr. Hum. Genet. Chicago,1966.
41. THIEDE, H. A., C R EASMAN, W. T„ M ETCALFE, S.: Antenatal analysis of the human chromosomes. Amer. J. Obstet. Gynecol, 94, 589, 1966.
42. UCHIDA, I. A.: Epidemiology of mongolism: The Manitoba Study. Ann. IM. Y. Acad. Sci. 171,361, 1970.
43. ER IC K SO N , J. D. and H ER K ED A LT , B.: Down's Syndrome Associated with Fathers Age in Norway. Journal of Medical Genetic. 18,22, 1981.
44. Maclntyre, N. M.: Chromosomal problems in Intrauterine Diagnosis. Birth Defects: Original Article Series, 5, 19,1971.
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2017-07-07
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López P, Santillán S. Diagnóstico Prenatal de las Enfermedades Hereditarias. Rev Fac Cien Med (Quito) [Internet]. 7 de julio de 2017 [citado 15 de noviembre de 2024];8(1-2):103-10. Disponible en: https://revistadigital.uce.edu.ec/index.php/CIENCIAS_MEDICAS/article/view/522
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