Diagnóstico genético preimplantación: mirando al futuro

Autores/as

  • Júan Luis Giraldo
  • Antonia Habana
  • Paulo Serafini
  • David Olive

DOI:

https://doi.org/10.18597/rcog.995

Palabras clave:

Diagnóstico Genético Preimplantación (PGD), FISH, PCR, enfermedades monogénicas, enfermedades ligadas al cromosoma X, aneuploidías, fertilización in vitro

Resumen

El diagnóstico genético preimplantación (PGD) es en el momento la forma más temprana de diagnóstico prenatal. En la década de los noventa su carácter experimental comienza a dar paso a su aplicación clínica. Se han reportado ya numerosos casos de nacidos vivos sometidos a PGD para la detección de enfermedades ligadas al sexo, enfermedades monogénicas y aneuploidías. Además su papel en la optimización del resultado de las técnicas de reproducción asistida está en estudio y parece promisorio, especialmente en el grupo de mujeres de mayor edad. Actualmente se utilizan la hibridización in situ fluorescente (FISH) y la reacción en cadena de polimerasa (PCR) como principales herramientas en el análisis del material genético del embrión. La obtención de este material se ha logrado mediante la biopsia de cuerpo polar, de blastómera y de trofoectodermo. En el seguimiento a corto y mediano plazo el PGD ha demostrado ser una técnica eficiente y segura, pero se carece aún de estudios con seguimiento a largo plazo que corroboren estos aspectos. Avances en el uso del PGD que faciliten su aplicación y disminuyan su costo serán responsables de una propagación en el uso de este método de diagnóstico prenatal en los próximos años.

 

Biografía del autor/a

Júan Luis Giraldo

Fellow, División Medicina Reproductiva e Infertilidad, Departamento de Obstetricia y Ginecología, Universidad de Yale, USA.

Antonia Habana

Fellow, División Medicina Reproductiva e Infertilidad, Departamento de Obstetricia y Ginecología, Universidad de Yale, USA.

Paulo Serafini

Profesor Asociado, División de Medicina Reproductiva e Infertilidad, Departamento de Obstetricia y Ginecología, Universidad de Yale, USA.

David Olive

Director de la División de Medicina Reproductiva e Infertilidad, Departamento de Obstetricia y Ginecología, Universidad de Yale, USA.

Referencias bibliográficas

Handyside A, Kontogianni E, Hardy K, et al. Pregnancies from biopsied human preimplantation embryos sexed by Y -specific DNA amplification. Nature 1990; 344: 768-770.

Munné S, Cohen J. Preimplantation diagnosis in older patients-but of course. Human Reproduction 1997; 12: 413-414.

Grifo J, Tang Y, Munné S, Alikani M, Cohen J, Rosenwaks Z. Healthy deliveries from biopsied human embryos. Human Reproduction 1994; 9: 912-916.

Handyside A, Lesko J, Tarin J, Winston R, Hughes M. Birth of a normal girl after in vitro fertilization. and preimplantation genetic testing. New England Journal of Medicine 1992;.327 : 905-909.

Gibbons W, Gitlin S, Lanzendorf S, Kaufmann R, Slotnick R, Hodgen G. Preimplantation genetic diagnosis forTay Sachs disease: successful pregnancy after pre-embryo biopsy and gene amplification by polymerase chain reaction. Fertility and Sterility 1995; 63: 723-728.

Liu J, Lissens W, Silber S, Devroey P, Liebaers I, Van Steirteghem A. Birth after preimplantation diagnosis of the cystic fibrosis Delta F508 mutation by polymerase chain reaction in human embryos resulting from intracytoplasmic sperm injection with epididymal sperm. JAMA 1994; 272: 1858-1860.

Griffin D, Handyside A, Harper J, et al. Clinical experience with preimplantation diagnosis of sex by dual fluorescent in situ hybridization. Journal of Assisted Reproduction and Genetics 1994; 11: 132-143.

Veiga A, Santalo J, Vidal F, et al . Twin pregnancy after preimplantation diagnosis for sex selection-case report. Human Reproduction 1994; 1994:2156-2159.

Verlinsky Y, Handyside A, Grifo J, et al. Preimplantation diagnosis of genetic and chromosomal disorders. Journal of Assisted Reproduction and Genetics 1994; 11 : 236-243.

Harper J , Coonen E, Handyside A, et al. ·Mosaicism of autosomes and sex chromosomes in morphologically normal , monospermic preimplantation human embryos. Prenat Diagn 1995; 15 41-49.

Munné S, Lee A, Rosenwaks Z, et al . Chromosome mosaicism in humanembryos. Biol Reprod 1994; 51:373-379.

Munné S, Lee A, Rosenwaks Z, et al. Diagnosis of mayor chromosome aneuploidies in human preimplantation embryos. Human Reproduction 1993; 8: 2185-2191.

Verlinsky Y, Cieslak J, Freidine M, et al. Pregnancies following preconception diagnosis of common aneuploidies by fluorescent in-situ hybridization. Human Reproduction 1995; 10: 1923-1927.

Ray P, Winston R, Handyside A. Reduced allele dropoutin single-cell analysis for preimplantation genetic diagnosis of cystic fibrosis. J Assist Reprod Genet 1996; 13: 104-106.

Munné S, Sultan K, Weier H, Grifo J, Cohen J, Rosenwaks Z. Assessment of numeric abnormalities ofX, Y, 18 and 16 chromosomes in preimplantation human embryos before transfer. American Journal of Obstetrics and Gynecology 1995; 172: 1191-1201.

Munné S, Dailey T, Sultan K, Grifo J, Cohen J. The use of the first polar bodies for preimplantation diagnosis of aneuploidy. Human Reproduction 1995; 10: 1014-1020.

Munné S, Alikani M, Cohen J, Tompkins G, Grifo J. Implantation failure of morphologically normal human embryos is due largely to aneuploidy. Fertility and Sterility 1995; 64: 382-391.

Munné S, Aliani M, Tomkin G, et al. Embryo morphology, developmental rates and maternal age are correlated with chromosome abnormalities. Fertility and Sterility 1995; 64: 382-391.

Dailey T, Dale B, Cohen J, Munné S. Association between non disjunction and maternal age in meiosis-II human oocytes detected by FIS analysis. Am J Hum Genet 1996; 59: 2077-2078.

Sauer M, Paulson R, Lobo R. Reversing the natural decline in human fertility : an extended clinical trial of oocyte donation to women of advanced reproductive age. JAMA 1992; 268: 1275-1279.

Gibbons W, Gitlin S, LanzendorfS. Strategies to respond to polymerase chain reaction deoxyribonucleic acid amplification failure in a preimplantation genetic diagnosis program. Am J Obstet Gynecol 1995; 172: 1088-1096.

Lissens W, Sermon K, Staessen C, et al. Review: Preimplantation diagnosis of inherited disease . J Inher Metab Dis 1996; 19: 709-723 .

Lissens W, Sermon K. Preimplantation genetic diagnosis: current status and new developments. Human Reproduction 1997; 12: 17 56- 1761.

Strom C, Verlinsky Y, Milayeva S, et al. Preconception · genetic diagnosis of cystic fibrosis . Lancet 1990; 336: 306-307 .

Verlinsky Y, Kuliev A. Preimplantation diagnosis of common aneuploidies in infertile couples of advanced maternal age. Human Reproduction 1996; 11:2076-2077.

Verlinsky Y, Ginsberg N, Lifchez A, et al. Analysis of the first polar body: preconception genetic diagnosis. Human Reproduction 1990; 5: 826-829.

Antonarakis S, Group DSC. Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. New England Journal of Medicine 1991; 324: 872-876.

Fisher J, Harvey J, Lindenbaum R, Boyd P, Jacobs P. Molecular studies of trisomy 18. American Journal of Human Genetics 1993; 52: 1139-1144.

Hassol T, Jacobs P, LeppertM, Sheldon M. Cytogenetic and molecular studies of trisomy 13. Journal of Medical Genetics 1987; 24: 725-732,

Verlinsky Y, Cieslak J, lvakhnenko V,et al. Birth of healthy children after preimplantation diagnosis of common aneuploidies by polar body fluorescent in situ hybridization analysis. Fertility and Sterility 1996; 66: 126-129.

Tarin J, Handyside A. Embryo biopsy strategies for preimplantation diagnosis. Fertility and Sterility 1993; 59: 943-952.

Tarin J, Conaghan J, Winston R, et al. Human embryo biopsy on the 2nd day after insemination for preimplantation diagnosis : removal of a quarter of embryo retards cleavage. Fertility and Sterility 1992; 58: 970-976.

Hardy K, Martín K, Leese H, et al. Human preimplantation development in vitro is not adversely affected by biopsy at the 8-cell stage. Human Reproduction 1990; 5: 708-714.

GrifoJ, KonstantinosG, Tang Y, C. Krey L. Successful outcome with day 4 embryo transfer after preimplantation diagnosis for genetically transmitted diseases. Human Reproduction 1998; 13 : ·1656-1659.

Grifo J, Tang Y, Munné S, Krey L. Update in preimplantation genetic diagnosis: successes, advances, and problems. Current Opinion in Obstetrics and Gynecology 1996; 8: 135- 138.

Pellestor F, Dufour M, Amal F, Humeau C. Direct assessment of the rate of chromosomal abnormalities in grade IV human embryos produced by in-vitro fertilization procedure. Human Reproduction 1994; 9: 293-302.

Plachot M, Junca A, Mandelbaum J, De Grouchi J, Salat-Baroux J, Cohen J . Chromosome investigations in early life: human preimplantation embryos. Human Reproduction 1987; 2: 29-35.

Bongso A, Fong C, Ng S, Ratman S, Lim J. Preimplantation genetics: chromosomes of fragmented human embryos. Fertility and Sterility 1991 ; 56: 66-70.

Delhanty J, Harper J, Ao A, et al. Multicolor FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients. Hum Genet 1997; 99: 755-760.

Edwards R, Beard H. Oocyte polarity and cell determination in early mammalian embryos. Mol Hum Reprod 1997; 3: 863-905 . .

Dokras A, Sargent I, Ross C, et al. Trophectoderm Biopsy in human blastocysts. Human Reproduction 1990; 5: 821-825 .

Dokras A, Sargent I, Gardner R, et al. Human trophectoderm biopsy and secretion of chorionic gonadotropin. Human Reproduction 1991 ; 6: 1453-1459.

Chen S, Chao K, Wu M, Chen C, Ho H, Yang Y. The simplified two pipette technique is more efficient than the conventional three-pipette method for blastomere biopsy in human embryos. Fertility and Sterility 1998; 69: 569-575.

Grifo J, Tang Y, Cohen J, Gilbert F, San y al M, Rosenwaks Z. Ongoing pregnancy in a hemophilia carrier by embryo biopsy and simultaneous amplification of X and Y chromosome specific DNA from single blastomeres. JAMA 1992; 6: 727-729.

Licciardi F, Gonzalez A, Tang Y, Grifo J, Cohen J, Neev Y. Laser ablation of the mouse zona pellucida for blastomere biopsy. J Assist Reprod Genet 1995; 12: 462-466.

Harper J, Coonen E, Ramaekers F, et al. Identification of the sex of human preimplantation embryos i n two hours using an improved spreading method and fluorescent in-situ hybridization (FISH) using directly labeled probes. Human Reproduction 1994; 9: 721-724.

Staessen C, Van Assche E, Joris H, et al. Clinical experience of sex determination by fluorescent in-situ hybridization for preimplantation genetic diagnosis. Molecular Human Reproduction 1999; 5: 382-389.

Liu J, Lissens W, Van Broeckhoven C, et al. Normal pregnancy after preimplantation diagnosis of a dystrophic gene deletion. Prenat Diagn 1995; 15: 351-358.

Boada M, Carrera M, De La Iglesia C, Sandalinas M, Barrí P, Veiga A. Successful use of a laser for human embryo biopsy in preimplantation genetic diagnosis: report of two cases. Journal of Assisted Reproduction and Genetics 1998; 15: 302-307.

Dreesen J, Geraedts J, Dumoulin J, et al. RS46 (DXS548) genotyping of reproductive cells: approaching preimplantation testing of the fragile-X syndrome. Hum Genet 1995; 96: 323-329.

Ray P, Winston R, Handyside A. Single cell analysis for diagnosis of cystic fibrosis and Lesch-Nyhan syndrome in human embryos before implantation. In: Miami Bio/Technology Short Reports: Proceedings of the 1994 Miami/Technology European Symposium, Advances in Gene Technology: Molecular biology and Human Genetic Disease, Miami Bio/Technology European Symposium, Miami, 1994. Vol. 5.

Levinson G, Keyvanfar K, Wu J, et al. DNA-based X-enriched sperm separation as an adjunct to preimplantation genetic testing for the prevention of X-linked disease. Human Reproduction 1995; 10: 979-982. .

Munné S, Benadiva C, Cohen J, Grifo J. Preimplantation diagnosis of aneuploidy in women of 40 years or older (Abstract). Fertility and Sterility 1995; 64:0-076.

Munné S, Grifo J, Cohen J, et al. Chromosome abnormalities in human arrested preimplantation embryos: a multiple-probe FISH study. Am J Hum Genet 1994; 55: 150-159.

Coonen E, Dumoulin J, Dreesen C, et al. Clinical application of FISH for sex determination of embryos in preimplantation diagnosis of X linked diseases. J Assist Reprod Genet 1996; 10: 82-90.

Lida T, Suzumori K, Ikuta K, et al. Identification of a Gly 862 to Ser substitution in the type I collagen gene from a single spermatozoon. Mol Hum Reprod 1996; 2:131-134.

Harton G, Tsipouras P, Sisson M, et al. Preimplantation genetic testing for Marfan syndrome. Mol Hum Reprod 1996; 2: 713-715.

Pickering S, Muggleton-Harris A. Reliability and accuracy of polymerase chain reaction amplification of two unique target sequences from biopsies of cleavage-stage and blastocyst -stage human embryos. Human Reproduction 1995; 10: 1021-1029.

Eldadah D, Grifo J, Dietz H. Marfan syndrome as a paradigm for transcript-targeted preimplantation diagnosis of heterozygous mutations. Nature Medicine 1995; 8:798-803.

Hattori M, Yoshioka K, Sakaki Y. Highly-sensitive fluorescent pNA sequencing and its application for detection and mass-screenirig of point mutations. Electrophoresis 1992; 13:560-565.

Kristjansson K, Chong S, Van den Veyver I, Subramanian S, Snabes M, Hughes M. Preimplantation single cell analysis of dystrophin gene deletions using whole genome amplification. Nature Geneties 1994; 6: 19-23.

Xu K, Tang Y, Grifo J, Rosenwaks Z, Cohen J. Primer extension preamplification for detection of multiple genetic loci from single human blastomeres. Human Reproduction 1993; 8: 2206-2210.

Zhang L, Cui X, Schmitt K, Hubert R, Navidi W, Arnheim N. Whole genome amplification · from a single cell: implications for genetic analysis. Proceedings of the National Academy of Sciences of the USA 1992; 89: 5847-5851.

Thornhill A, Holding C, Monk M. Recycling the single cell to detect specific chromosomes and to investigate specific gene sequences. Human Reproduction 1994; 9: 2150-2155.

Thornohill A, Monk M. Cell recycling of a single human cell for preimplantation diagnosis of X-linked disease and dual sex determination. Mol Hum Reprod 1996; 2: 285-289.

Rechitsky S, Freidine M, Verlinsky Y, et al. Allele dropout in sequential PCR and FISH analysis of single cells ( cell recycling) . J Assist Reprod Genet 1996; 13: 115-124.

Cómo citar

1.
Giraldo JL, Habana A, Serafini P, Olive D. Diagnóstico genético preimplantación: mirando al futuro. Rev. colomb. obstet. ginecol. [Internet]. 30 de septiembre de 1999 [citado 12 de julio de 2024];50(3):145-50. Disponible en: https://revista.fecolsog.org/index.php/rcog/article/view/995

Descargas

Los datos de descargas todavía no están disponibles.

Descargas

Publicado

1999-09-30

Número

Sección

Revisión de la Literatura
QR Code

Métricas

Estadísticas de artículo
Vistas de resúmenes
Vistas de PDF
Descargas de PDF
Vistas de HTML
Otras vistas
Crossref Cited-by logo

Algunos artículos similares: