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Diagnosis of inherited disease before implantation

Published online by Cambridge University Press:  02 March 2009

Alan H Handyside
Alan H Handyside*
Affiliation:
Institute of Obstetrics and Gynaecology, Royal Postgraduate Medical School, London, UK
*
Alan H Handyside, Institute of Obstetrics and Gynaecology, Royal Postgraduate Medical School, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK.
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Abstract

The diagnosis of inherited disease in affected embryos before implantation is now possible using in vitro fertilization (IVF), embryo biopsy and DNA analysis. This enables pregnancies to be established with unaffected embryos following transfer to the uterus avoiding the possibility of terminating a pregnancy diagnosed as affected later in gestation. Pregnancies have been established with female embryos in women carrying X-linked recessive genetic defects affecting boys by identifying the sex of embryos either by DNA amplification of Y-specific sequences or by dual fluorescent in situ hybridization (FISH) with X- and Y-specific probes to interphase nuclei. The predominant ΔF508 deletion causing cystic fibrosis (CF) has also been detected by DNA amplification from single cells and the first pregnancy and birth of a child successfully screened for a single gene defect achieved. The prospects for applying preimplantation diagnosis to other chromosomal and single gene defects are reviewed.

Type
Articles
Information
Reproductive Medicine Review , Volume 2 , Issue 1 , March 1993 , pp. 51 - 61
Copyright
Copyright © Cambridge University Press 1993

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References

1Weatherall, DJ. The new genetics and clinical practice, third edition. Oxford: Oxford University Press, 1991.Google Scholar
2McKusick, VA. Mendelian inheritance in man, ninth edition. Baltimore, MD: The Johns Hopkins University Press, 1991.Google Scholar
3Interim Licensing Authority. The fifth report of the Interim Licensing Authority for human in vitro fertilization and embryology. Clements House, Gresham Street, London EC2: ILA, 1990.Google Scholar
4Hardy, K. Development of human blastocysts in vitro. In: Bavister, B ed. Preimplantation embryo development. New York: Springer-Verlag, 1993 (in press).Google Scholar
5Monk, M, Handyside, AH, Hardy, K, Whittingham, DG. Preimplantation diagnosis of deficiency in hypoxanthine phosphoribosyl transferase in a mouse model for Lesch—Nyhan syndrome. Lancet 1987; ii: 423–25.CrossRefGoogle Scholar
6Hooper, ML, Hardy, K, Handyside, AH, Hunter, S, Monk, M. HPRT-deficient (Lesch—Nyhan) mouse embryos derived from germ line colonization by cultured cells. Nature 1987; 326: 292–95.CrossRefGoogle ScholarPubMed
7Monk, M. Biochemical microassays for X-chromosome-linked enzymes HPRT and PGK. In: Monk, M ed. Mammalian development – a practical approach. Oxford: IRL Press, 1987: 139–62.Google Scholar
8Monk, M, Handyside, A, Muggleton Harris, A, Whittingham, D. Preimplantation sexing and diagnosis of hypoxanthine phosphoribosyl transferase deficiency in mice by biochemical microassay. Am J Med Genet 1990; 35: 201–205.CrossRefGoogle ScholarPubMed
9Monk, M, Handyside, AH. Sexing of preimplantation mouse embryos by measurement of X-linked gene dosage in a single blastomere. J Reprod Fertil 1988; 82: 365–68.CrossRefGoogle Scholar
10Monk, M, Muggleton-Harris, AL, Rawlings, E, Whittingham, DG. Preimplantation diagnosis of HPRT-deficient male and carrier female mouse embryos by trophectoderm biopsy. Hum Reprod 1988; 3: 377–81.CrossRefGoogle ScholarPubMed
11Braude, PR, Monk, M, Pickering, SJ, Cant, A, Johnson, MH. Measurement of HPRT activity in the human unfertilized oocyte and pre-embryo. Prenat Diagn 1989; 9: 839–50.CrossRefGoogle ScholarPubMed
12Leese, HJ, Humpherson, PG, Hardy, K, Hooper, MA, Winston, RM, Handyside, AH. Profiles of hypoxanthine guanine phosphoribosyl transferase and adenine phosphoribosyl transferase activities measured in single preimplantation human embryos by high-performance liquid chromatography. J Reprod Fertil 1991; 91: 197–202.CrossRefGoogle ScholarPubMed
13White, TJ, Arnheim, N, Erlich, HA. The polymerase chain reaction. Trends Genet 1989; 5: 185–89.CrossRefGoogle ScholarPubMed
14Trask, BJ. Fluorescence in situ hybridisation: applications in cytogenetics and gene mapping. Trends Genet 1991; 7: 149–54.CrossRefGoogle ScholarPubMed
15Penketh, RJ, Delhanty, JD, van den Berghe, JA et al. Rapid sexing of human embryos by non-radioactiv. in situ hybridization: potential for preimplanation diagnosis of X-linked disorders. Prenat Diagn 1989; 9: 489–99.CrossRefGoogle Scholar
16Nederlof, PM, Robinson, D, Abuknesha, R et al. Three-colour fluorescenc. in situ hybridization for the simultaneous detection of multiple nucleic acid sequences. Cytometry 1989; 10: 20–27.CrossRefGoogle Scholar
17Pinkel, D, Landegant, J, Collins, C et al. Fluorescenc. in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA 1988; 85: 9138–42.CrossRefGoogle Scholar
18Verlinsky, Y, Ginsberg, N, Lifchez, A, Valle, J, Moise, J, Strom, CM. Analysis of the first polar body: preconception genetic diagnosis. Hum Reprod 1990; 5: 826–29.CrossRefGoogle ScholarPubMed
19Papaioannou, VE, Ebert, KM. Comparative aspects of embryo manipulation in mammals. In: Rossant, J, Pedersen, R eds. Experimental approaches to mammalian embryonic development. Cambridge: Cambridge University Press, 1986: 67–96.Google Scholar
20Trounson, AO, Mohr, L. Human pregnancy following cryopreservation, thawing and transfer of an eight-cell embryo. Nature 1983; 305: 707.CrossRefGoogle ScholarPubMed
21Veiga, A, Calderón, G, Barri, PN, Coroleu, B. Pregnancy after replacement of a frozen-thawed embryo with less than 50% intact blastomeres. Hum Reprod 1987; 2: 321.CrossRefGoogle ScholarPubMed
22Dokras, A, Sargent, IL, Ross, C, Gardner, RL, Barlow, DH. Trophectoderm biopsy in human blastocysts. Hum Reprod 1990; 5: 821–25.CrossRefGoogle ScholarPubMed
23Dokras, A, Sargent, IL, Gardner, RL, Barlow, DH. Human trophectoderm biopsy and secretion of chorionic gonadotrophin. Hum Reprod 1991; 6: 1453–59.CrossRefGoogle ScholarPubMed
24Summers, PM, Campbell, JM, Miller, MW. Normal in vivo development of marmoset monkey embryos after trophectoderm biopsy. Hum Reprod 1988; 3: 389.CrossRefGoogle ScholarPubMed
25Bolton, VN, Wren, ME, Parsons, JH. Pregnancies after in vitro fertilization and transfer of human blastocysts. Fertil Steril 1991; 55: 830–32.CrossRefGoogle ScholarPubMed
26Dawson, KJ, Conaghan, J, Ostera, GR, Hardy, K, Winston, RML. Pregnancy rates after IVF are similar whether embryos are transferred on day 2 or day 3 post insemination. J Reprod Fertil Abstr Ser 1992; 10: 21 (Abstract).Google Scholar
27Tarin, JJ, Handyside, AH. Embryo biopsy strategies for preimplantation diagnosis. Fertil Steril 1992 (in press).Google Scholar
28Van Steirteghem, A, Liu, J, Van den Abbeel, E, Liebaers, I, Devroey, P. In vitro fertilization and preimplantation diagnosis. In: Verlinsky, Y, Kuliev, A eds. Preimplantation genetics. New York: Plenum Press, 1991:155–64.CrossRefGoogle Scholar
29Roudebush, WE, Kim, JG, Minhas, BS, Dodson, MG. Survival and cell acquisition rates after preimplantation embryo biopsy: use of two mechanical techniques and two mouse strains. Am J Obstet Gynecol 1990; 162: 1084–90.CrossRefGoogle ScholarPubMed
30Hardy, K, Martin, KL, Leese, HJ, Winston, RM, Handyside, AH. Human reimplantation development in vitro is not adversely affected by biopsy at the 8-cell stage. Hum Reprod 1990; 5: 708–14.CrossRefGoogle Scholar
31Tarin, JJ, Conaghan, J, Winston, RML, Handyside, AH. Embryo biopsy on the second day post insemination for preimplantation diagnosis: biopsy of a quarter of the embryo retards cleavage. Fertil Steril 1992; 58: 970–76.CrossRefGoogle Scholar
32Loskutoff, NM, Xu, KP, Betteridge, KJ. Effect of biopsy on the development of cleavage stage bovine embryos generated in vitro. J Reprod Fertil Abstr Ser 1991; 7: 35 (abstract).Google Scholar
33Handyside, AH, Kontogianni, EH, Hardy, K, Winston, RM. Pregnancies from biopsied human reimplantation embryos sexed by Y-specific DNA amplification. Nature 1990; 344: 768–70.CrossRefGoogle Scholar
34Handyside, AH, Pattinson, JK, Penketh, RJ, Delhanty, JD, Winston, RM, Tuddenham, EG. Biopsy of human reimplantation embryos and sexing by DNA amplification. Lancet 1989; i: 347–49.CrossRefGoogle Scholar
35Handyside, AH, Delhanty, JD A. Cleavage stage biopsy of human embryos and diagnosis of X-linked recessive disease. In: Edwards, RG ed. Preimplantation diagnosis of human genetic disease. Cambridge: Cambridge University Press, 1993 (in press).Google Scholar
36Kontogianni, EH, Hardy, K, Handyside, AH. Co-amplification of X- and Y-specific sequences for sexing preimplantation human embryos. In: Verlinsky, Y, Strom, C eds. Preimplantation genetics. New York: Plenum, 1991: 139–45.CrossRefGoogle Scholar
37Li, H, Cui, X, Arnheim, N. Analysis of DNA sequence variation in single cells. In: Methods: a companion to methods in enzymology. San Diego: Academic Press, 1991: 49–59.Google Scholar
38Kontogianni, EH, Griffin, DK, Handyside AH. Amplification of a Y-specific alphoid repeat from single blastomeres to identify sex in X-linked disease: comparison of two lysis protocols. Mol Reprod Dev 1993 (unpublished observations).Google Scholar
39Strom, CM, Rechitsky, S, Verlinsky, Y. Reliability of gender determination using the polymerase chain reaction (PCR) for single cells. J In Vitro Pert Embryo Transf 1991; 8: 225–29.CrossRefGoogle ScholarPubMed
40Levinson, GL, Fields, RA, Harton, GL et al. Reliable gender screening for human preimplantation embryos, using multiple DNA target-sequences. Hum Reprod 1992; 7: 1304–13.CrossRefGoogle ScholarPubMed
41Griffin, DK, Handyside, AH, Penketh, RJ, Winston, RM, Delhanty, JD. Fluorescent in situ hybridization to interphase nuclei of human reimplantation embryos with X and Y chromosome specific probes. Hum Reprod 1991; 6: 101–105.CrossRefGoogle Scholar
42Griffin, DK, Wilton, LJ, Handyside, AH, Winston, RM, Delhanty, JD. Dual fluorescent in situ hybridisation for simultaneous detection of X and Y chromosome-specific probes for the sexing of human reimplantation embryonic nuclei. Hum Genet 1992; 89: 18–22.CrossRefGoogle Scholar
43Griffin, DK, Wilton, LJ, Handyside, AH, Atkinson, GHG, Winston, RML, Delhanty JDA. Pregnancies following the diagnosis of sex in preimplantation embryos by fluorescent in situ hybridisation. Br Med J 1993 (unpublished observations).CrossRefGoogle Scholar
44Strom, CM, Verlinsky, Y, Milayeva, S et al. Preconception genetic diagnosis of cystic fibrosis [letter]. Lancet 1990; 336: 306–307.CrossRefGoogle ScholarPubMed
45Lesko, J, Snabes, M, Handyside, AH, Hughes, M. Amplication of the cystic fibrosis DF508 mutation from single cells: applications toward genetic diagnosis of the preimplantation embryo. Am J Hum Genet 1991; 49: 223 (abstract).Google Scholar
46Lesko, JG, Handyside, AH, Cota, J et al. Preimplantation genetic diagnosis of cystic fibrosis: reliable detection of the AF508 mutation in single cells. Am J Hum Genet 1993 (in press).Google Scholar
47Handyside, AH, Leskò, J, Tarin, JJ, Winston, RML, Hughes, M. Birth of a normal girl following preimplantation diagnosis of cystic fibrosis. N Engl J Med 1992; 327: 905–909.CrossRefGoogle Scholar
48Hardy, K, Handyside, AH. Biopsy of cleavage stage human embryos and diagnosis of single gene defects by DNA amplification. Arch Pathol Lab Med 1992; 116: 388–92.Google ScholarPubMed
49Coutelle, C, Williams, C, Handyside, A, Hardy, K, Winston, R, Williamson, R. Genetic analysis of DNA from single human oocytes: a model of preimplantation diagnosis of cystic fibrosis. Br Med J 1989; 299: 22–24.CrossRefGoogle Scholar
50Monk, M, Holding, C. Amplification of a beta-haemoglobin sequence in individual human oocytes and polar bodies. Lancet 1990; 335: 985–88.CrossRefGoogle ScholarPubMed
51de Grouchy, J, Turleau, C. Autosomal disorders. In: Emery, AEH, Rimoin, DL eds. Principles and practice of medical genetics second edition. Edinburgh: Churchill Livingstone, 1990: 247–72.Google Scholar
52Angell, RR. Chromosome abnormalities in human preimplantation embryos. In: Yoshinaga K, Mori T eds. Development of preimplantation embryos and their environment. Prog Clin Biol Res 1989; 294: 181–87.Google Scholar
53Papadopoulos, G, Templeton, AA, Fisk, N, Randall, J. The frequency of chromosome anomalies in human preimplantation embryos after in vitro fertilization. Hum Reprod 1989; 4: 91–98.CrossRefGoogle ScholarPubMed
54Burgoyne, PS, Holland, K, Stephens, R. Incidence of numerical chromosome anomalies in human pregnancy estimation from induced and spontaneous abortion data. Hum Reprod 1991; 6: 555–65.CrossRefGoogle ScholarPubMed
55Kola, I, Wilton, L. Preimplantation embryo biopsy: detection of trisomy in a single cell biopsied from a four-cell mouse embryo. Mol Reprod Dev 1991; 29: 16–21.CrossRefGoogle Scholar
56Schrurs, B, Winston, RML, Handyside, AH. Preimplantation diagnosis of aneuploidy by fluorescent in situ hybridization: evaluation using a chromosome 18 specific probe. Hum Reprod 1993 (in press).CrossRefGoogle Scholar
57Angell, RR, Sumner, AT, West, JD, Thatcher, SS, Glasier, AF, Baird, DT. Post-fertilization polyploidy in human preimplantation embryos fertilized in vitro. Hum Reprod 1987; 2: 721–27.CrossRefGoogle ScholarPubMed
58Zhang, L, Cui, X, Schmitt, K, Hubert, R, Navidi, W, Arnheim, N. Whole genome amplification from a single cell: implications for genetic analysis. Proc Natl Acad Sci USA 1992; 89: 5847–51.CrossRefGoogle ScholarPubMed
59Hubert, R, Weber, JL, Schmitt, K, Zhang, L, Arnheim, N. A new source of polymorphic DNA markers for sperm typing: analysis of microsatellite repeats in single cells. Am J Hum Genet 1992; 51: 985–91.Google ScholarPubMed
60Feldberg, D, Farhi, J, Dicker, D, Ashkenazi, J, Shelef, M, Goldman, JA. The impact of embryo quality on pregnancy outcome in older women undergoing in vitro fertilization-embryo transfer (IVF-ET). J In Vitro Pert Embryo Transf 1990; 7: 257–61.CrossRefGoogle ScholarPubMed
61Boué, A, Boué, J, Gropp, A. Cytogenetics of pregnancy wastage. Adv Hum Genet 1985; 14: 1–58.Google ScholarPubMed
62Cohen, J, Eisner, C, Kort, H et al. Impairment of the hatching process following IVF in the human and improvement of implantation by assisting hatching using micromanipulation. Hum Reprod 1990; 5: 7–13.CrossRefGoogle ScholarPubMed
63Cohen, J. Assisted hatching of human embryos. J In Vitro Fert Embryo Transf 1991; 8: 179–90.CrossRefGoogle ScholarPubMed