Abstract
The ability to hyperstimulate the ovaries, retrieve ova, and fertilize them has made in vitro fertilization (IVF) a safe and effective treatment for infertility. Several tens of thousands of children have been born to couples who were unable to conceive otherwise. IVF has opened the door to several reproductive advances such as oocyte donation, embryo freezing, and assisted fertilization procedures such as the recently introduced procedure of intracytoplasmic sperm injection (ICSI) to alleviate severe male-factor infertility. IVF also made preimplantation genetic diagnosis possible as an option to couples at risk for serious genetic disease. Rather than terminating a pregnancy after conventional prenatal diagnosis, embryo analysis permits selection of embryos without disease to be replaced in the uterus.
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References
Verlinsky Y, Ginsberg N, Lifchez A, Valle J, Moise J, Strom C (1990) Analysis of the first polar body: preconception genetic diagnosis. Hum Reprod 5: 826–829
Strom C, Verlinsky Y, Milayeva S, Evskilov S, Cieslak J, Lifchez A, Valle J, Moise J, Ginsberg N, Applebaum M (1990) Preconception genetic diagnosis of cystic fibrosis. Lancet 336: 306–307
Verlinsky Y, Rechitsky S, Evsikov S, White M, Cieslak J, Lifchez A, Valle J, Moise J, Strom C (1992) Preconception and preimplantation diagnosis for cystic fibrosis. Prenat Diagn 12: 103–110
Dokras A, Sargent IL, Ross C, Gardner RL, Barlow DH (1990) Trophectoderm biopsy in human blastocysts. Hum Reprod 5: 821–825
Buster JE, Bustillo M, Rodi IA, Cohen SW, Hamilton MH, Simon JA, Thorneycroft IH, Marshall JR (1985) Biologic and morphologic development of donated human ova recovered by nonsurgical uterine lavage. Am J Obstet Gynecol 153: 211–217
Carson SA, Smith AL, Scoggan JL, Buster JE (1991) Superovulation fails to increase human blastocyst yield after uterine lavage. Prenat Diagn 11: 513–522
Hardy K, Martin KL, Leese HJ, Winston RML, Handyside AH (1990) Human pre-implantation development in vitro is not adversely affected by biopsy at the 8-cell stage. Hum Reprod 5: 708–714
Handyside AH, Kontogianni EH, Hardy K, Winston RML (1990) Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344: 768–770
Winston RML, Handyside AH (1993) New challenges in human in vitro fertilization. Science 260: 932–936
Van Steirteghem A, Tournaye H, Van der Elst J, Verheyen G, Liebaers I, Devroey P (1995) Intractyoplasmic sperm injection three years after the birth of the first ICSI child. Hum Reprod 10: 2527–2528
Nagy Z, Liu J, Janssenswillen C, Silber S, Devroey P, Van Steirteghem A (1995) Using ejaculated, fresh and frozen-thawed epididymal and testicular spermatozoa gives rise to comparable results after intracytoplasmic sperm injection. Fertil Steril 63: 808815
Tarin JJ, Handyside AH (1993) Embryo biopsy strategies for preimplantation diagnosis. Fertil Steril 59: 943–952
Liu J, Van den Abbeel E, Van Steirteghem A (1993) The in-vitro and in-vivo developmental potential of frozen and non-frozen biopsied 8-cell mouse embryos. Hum Reprod 8: 1481–1486
Saiki RK, Scharf S, Fallona F et al (1985) Enzymatic amplification of (3-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 230: 1350–1354
Mullis KB (1990) The unusual origin of the polymerase chain reaction. Sci Am April 1990: 36–43
Liu J, Lissens W, Devroey P, Van Steirteghem AC, Liebaers I (1994) Amplification of X- and Y-chromosome-specific regions from single human blastomeres by polymerase chain reaction for sexing of preimplantation embryos. Hum Reprod 9: 716720
Liu J, Lissens W, Devroey P, Van Steirteghem AC, Liebaers I (1992) Efficiency and accuracy of polymerase-chain-reaction assay for cystic fibrosis allele DF508 in single cell. Lancet 339: 1190–1192
Liu J, Lissens W, Devroey P, Van Steirteghem AC, Liebaers I (1993) Polymerase chain reaction analysis of the cystic fibrosis DF508 mutation in human blastomeres following oocyte injection of a single sperm from a carrier. Prenat Diagn 13: 873–880
Liu J, Lissens W, Silbern SJ, Devroey P, Liebaers I, Van Steirteghem A (1994) Birth after preimplantation diagnosis of the cystic fibrosis AF508 mutation by polymerase chain reaction in human embryos resulting from intracytoplasmic sperm injection with epididymal sperm. JAMA 272: 1858–1860
Liu J, Lissens W, Van Broeckhoven C et al (1995) Normal pregnancy after pre-implantation DNA diagnosis of a dystrophin gene deletion. Prenat Diagn 15: 351–358
Brook JD, Mc Currach ME, Harley HG et al (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3’ end of a transcript encoding a protein kinase family member. Cell 68: 799–808
Mahadevan M, Tsilfidis C, Sabourin L et al (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3’ untranslated region of the gene. Science 255: 12531255
Griffin DK, Wilton LJ, Handyside A, Atkinson, GHG, Winston R, Delhanty JDA (1993) Diagnosis of sex in preimplantation embryos by fluorescent in situ hybridisation. Br Med J 306: 1382
Delhanty JDA, Griffin DK, Handyside AH, Harper J, Atkinson GHG, Pieters MHEC, Winston RML (1993) Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridisation ( FISH ). Hum Mol Gen 2: 1183–1185
Munné S, Weier HUG, Stein J, Grifo J, Cohen, JA (1993) A fast and efficient method for simultaneous X and Y in situ hybridization of human blastomeres. J Ass Reprod Gen 10: 82–90
Coonen E, Dumoulin CM, Ramaekers FCS, Hopman AHN (1994) Optimal preparation of preimplantation embryo interphase nuclei for analysis by fluorescence in-situ hybridization. Hum Reprod 9: 533–537
Harper J, Coonen E, Ramaekers F, Delhanty J, Handyside A, Winston R, Hopman A (1994) Identification of the sex of human preimplantation embryos in two hours using an improved spreading method and fluorescent in-situ hybridization ( FISH) using directly labelled probes. Hum Reprod 9: 721–724
Munné S, Lee A, Rosenwaks Z, Grifo J, Cohen J (1993) Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum Reprod 8: 21852191
Verlinsky Y, Handyside A, Simpson JL, Edwards R, Kuliev A, Muggleton-Harris A, Readhead C, Liebaers, I, Coonen E, Plachot M, Carson S, Strom C, Braude P, Van Steirteghem A, Monk M, Ginsberg N, Pieters M, De Sutter P, Gimenez C, Kontogianni E, Matthew C, Wilton L (1993) Current progress in preimplantation genetic diagnosis. J Ass Reprod Genet 10: 353–360
Harper JC, Handyside AH (1994) The current status of preimplantation diagnosis. Current Obstet Gynaecol 4: 143–149
Harper JC (1996) Preimplantation diagnosis of inherited disease by embryo biopsy: an update of the world figures. J Ass Reprod Genet 13: 1–6
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© 1997 Springer-Verlag Berlin Heidelberg
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Liebaers, I. et al. (1997). Preimplantation Diagnosis. In: Rabe, T., Diedrich, K., Runnebaum, B. (eds) Manual on Assisted Reproduction. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-00763-1_16
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DOI: https://doi.org/10.1007/978-3-662-00763-1_16
Publisher Name: Springer, Berlin, Heidelberg
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