The Emerging Technology and Application of Preimplantation Genetic Diagnosis

See, for example, Fujimura J.H. , Crafting Science: A Sociohistory of the Quest for the Genetics of Cancer (Cambridge: Harvard University Press, 1996); and Friedman J.M. , “Genetics and Epidemiology, Congenital Anomalies and Cancer,” American Journal of Human Genetics, 60 (1997): 469–73.

See, for example, Scott W.K. Pericak-Vance M.A. Haines J.L. , Letter, “Genetic Analysis of Complex Diseases,” Science, 275 (1997): 1327; Bell D.A. Taylor J. A. , Letter, “Genetic Analysis of Complex Diseases,” Science, 275 (1997): 1327–28; Long A.D. Grote M.N. Langley C.H. , Letter, “Genetic Analysis of Complex Diseases,” Science, 275 (1997): 1328; Muller-Myhsok B. Abel L. , Letter, “Genetic Analysis of Complex Diseases,” Science, 275 (1997): 1328–29; Merikangas K. , Letter, “Genetic Analysis of Complex Diseases,” Science, 275 (1997): 1329–30; Risch N. Merikangas K. , “The Future of Genetic Studies of Complex Human Diseases,” Science, 273 (1996): 1516–17; and Sawcer S. Goodfellow P.N. Compston A. , “The Genetic Analysis of Multiple Sclerosis,” Trends in Genetics, 13 (1997): 234–39.

See Spielman R.S. McGinnis R.E. Ewens W.J. , “Transmission Test for Linkage Disequilibrium: The Insulin Gene Region and Insulin-Dependent Diabetes Mellitus (IDDM),” American journal of Human Genetics, 52 (1993): 506–11; and Mitchell L.E. , “Differentiating Between Fetal and Maternal Genotypic Effects Using the Transmission Test for Linkage Disequilibrium,” American Journal of Human Genetics, 60 (1997): 1006–07.

See Sawcer Goodfellow Compston , supra note 2.

See, for example, Kent-First M. , “A Lesson from Mosaics: Don't Leave the Genetics Out of Molecular Genetics,” Journal of NIH Research, 9 (1997): 29–33; Iarovici D. , “Anti-Integrin Blocks Osteoporosis in Rats Lacking Estrogen,” Journal of NIH Research, 9 (1997): 34–35; and Boehmer A.L.M. , “Germ-Line and Somatic Mosaicism in the Androgen Insensitivity Syndrome: Implications for Genetic Counseling,” American Journal of Human Genetics, 60 (1997): 1003–06.

See Crystal R.G. , “Transfer of Genes to Humans: Early Lessons and Obstacles to Success,” Science, 270 (1995): 404–10.

See Koehn R.K. Hilbish T.J. , “The Adaptive Importance of Genetic Variation,” American Scientist, 75 (1996): 182–89.

See Little P. , “Human Genetics. Woman's Meat, a Man's Poison,” Nature, 382 (1996): 494–95; and Post S.G. , “The Clinical Introduction of Genetic Testing for Alzheimer Disease. An Ethical Perspective,” JAMA, 277 (1997): 832–36.

See Giardiello F.M. , “The Use and Interpretation of Commercial APC Gene Testing for Familial Adenomatous Polyposis,” N. Engl. J. Med., 336 (1997): 823–27.

See Neel J. , “A Program for Genetics in a World of Desperate Scarcities,” in Mattern M. , ed., Moral Education V (Cold Spring Harbor: Cold Spring Harbor Press, 1995): 45–73; Leonard H.B. Zeckhauser R.J. , “Cost-Benefit Analysis Applied to Risks: Its Philosophy and Legitimacy,” in Beauchamp T.L. Walters L. , eds., Contemporary Issues in Bioethics (Belmont: Wadsworth, 3rd ed., 1989): 607–18; Modell B. Kuliev A.M. , “A Scientific Basis for Cost-Benefit Analysis of Genetic Services,” Trends in Genetics, 9 (1993): 46–51; Hidlebaugh D.A. Thompson I.E. Berger M.J. , “Cost of Assisted Reproductive Technologies for a Health Maintenance Organization,” Journal of Reproductive Medicine, 42 (1997): 570–74; and Davis D.S. , “Genetic Dilemmas and the Child's Right to an Open Future,” Rutgers Law Journal, 28 (1997): 549–92.

See Verlinsky Y. , Abstract, “Preimplantation Diagnosis of Age-Related Aneuploidies by First and Second Polar Body FISH Analysis,” Journal of Assisted Reproduction and Genetics, 14 (1997): 477.

See Scriver C.R. , eds., The Metabolic and Inherited Bases of Inherited Disease (New York: McGraw-Hill, 7th ed., 1995); and Welsh M.J. , “Cystic Fibrosis,” in Scriver , id. at 3799–876.

See Sanders J.S. Pryor T.D. Wedel M.K. , “Prolonged Survival in an Adult with Cystic Fibrosis,” Chest, 11 (1980): 226–27.

See Gibson L.E. Cooke R.E. , “A Test for Concentration of Electrolytes in Sweat in Cystic Fibrosis of the Pancreas Utilizing Pilocarpine by Iontophoresis,” Pediatrics, 23 (1959): 545.

See Collins F.S. , “Cystic Fibrosis: Molecular Biology and Therapeutic Implications,” Science, 256 (1992): 774–83.

See Gravel R.A. , “The GM2 Gangliosidoses,” in Scriver , supra note 12, at 2838–78.

See id. at 2859.

See id. at 2862.

Worton R.G. Brooke M.H. , “The X-Linked Muscular Dystrophies,” in Scriver , supra note 12, at 4195–226.

Gussoni E. Blau H.M. King L.M. , “The Fate of Individual Myoblasts after Transplantation into Muscles of DMD Patients,” Nature Medicine, 3 (1997): 970–77.

Emery A.E.H. , Duchenne Muscular Dystrophy (New York: Oxford University Press, 2nd ed., 1993).

See Gussoni Blau King , supra note 20.

See Caskey C.T. , “Triplet Repeat Mutations in Human Disease,” Science, 256 (1992): 784–88; and Sutherland G.R. Molley J.C. Richards R.I. , “Fragile X Syndrome: The Most Common Cause of Familial Intellectual Handicap,” Medical Journal of Australia, 158 (1993): 482–85.

See Beaudet A.L. , “Genetics, Biochemistry, and Molecular Basis of Variant Human Phenotypes,” in Scriver , supra note 12, at 67.

See Caskey , supra note 23.

See id.

See Beaudet , supra note 24; and Epstein C. , “Down Syndrome (Trisomy 21),” in Scriver , supra note 12, at 749–94.

See Warburton D. , “Cytogenetic Abnormalities in Spontaneous Abortions of Recognized Conceptions,” in Porter I.H. Willey A. , eds., Perinatal Genetics: Diagnosis and Treatment (New York: Academic Press, 1986): 133–48.

See Thompson J.S. Thompson M.W. , eds., Genetics in Medicine (Philadelphia: W.S. Saunders, 1986); and Beaudet , supra note 24.

For a very comprehensive view of genetic diseases, see Metabolic and Molecular Bases of Inherited Disease. See Scriver , supra note 12.

See Scriver C.R. , “The Frequency of Genetic Disease and Congenital Malformation among Patients in a Pediatric Hospital,” Canadian Medical Association Journal, 108 (1973): 1111–15; Baird P.A. , “Genetic Disorders in Children and Young Adults: A Population Study,” American Journal of Human Genetics, 42 (1988): 677–93; Galjaard H. , Genetic Metabolic Diseases: Early Diagnosis and Prenatal Analysis (Amsterdam: Elsevier, 1980); Delhanty J.D.A. Handyside A.H. , “The Origin of Genetic Defects in the Human and their Detection in the Preimplantation Embryo,” Human Reproduction Update, 1 (1995): 201–15; and McKusick V.A. , Mendelian Inheritance in Man (Baltimore: Johns Hopkins Press, 1992).

See Beaudet , supra note 24, at 67; and see Galjaard , supra note 31.

See Delhanty Handyside , supra note 31.

See Wilcox J.A. , “Incidence of Early Loss of Pregnancy,” N. Engl. J. Med., 319 (1988): 189–94.

See Beaudet , supra note 24, at 69.

See Saiki R.K. , “Primer-Directed Enzymatic Amplification of DNA with a Thermostabile DNA Polymerase,” Science, 239 (1988): 487–91.

See Delhanty J.D.A. , “Multicolor FISH Detects Frequent Chromosomal Mosaicism and Chaotic Division in Normal Preimplantation Embryos from Fertile Patients,” Human Genetics, 99 (1997): 755–60.

See Munné S. , “The Use of First Polar Bodies for Preimplantation Diagnosis of Aneuploidy,” Human Reproduction, 10 (1995): 1014–20; and Dyban A. , “Detection of Aneuploidy in Human Oocytes and Corresponding First Polar Bodies by Fluorescent In Situ Hybridization,” Journal of Assisted Reproduction and Genetics, 13 (1996): 73–78.

See Handyside A.H. Delhanty J.D.A. , “Preimplantation Genetic Diagnosis: Strategies and Surprises,” Trends in Genetics, 13 (1997): 270–75.

See McClure M.E. , “The ART of Medically-Assisted Reproduction: An Embryo is an Embryo is an Embryo,” in Thomasma D.C. Kushner T. , eds., Birth to Death: Science and Bioethics (New York: Cambridge University Press, 1996): 35–49.

See Hardy K. , “Human Preimplantation Development In Vitro Is Not Adversely Affected by Biopsy at the 8-Cell Stage,” Human Reproduction, 5 (1990): 708–14; Pierce K.E. , “Preimplantation Development of Mouse and Human Embryos Biopsied at Cleavage Stages Using a Modified Displacement Technique,” Human Reproduction, 12 (1997): 351–56.

See Delhanty , supra note 37.

See Harris J.A. James L. , “State-by-State Cost of Birth Defects—1992,” Teratology, 56 (1997): 11–12.

See Handyside Delhanty , supra note 39.

See El-Hashemite N. Wells D. Delhanty J.D.A. , Letter & Comment, “Preimplantation Genetic Diagnosis of Beta-Thalassaemia,” Lancet, 348 (1996): 620.

See Findlay I. , “Simultaneous DNA ‘Fingerprinting,’ Diagnosis of Sex and Single-Gene Defect Status from Single Cells,” Human Reproduction, 10 (1995): 1005–13; and Findlay I. , Abstract, “Fluorescent PCR in Single Cells,” Journal of Assisted Reproduction and Genetics, 14 (1997): 439–40.

See Grifo J.A. , Abstract, “Preimplantation Genetic Diagnosis of Marfan's Syndrome Using Single Cell PCR and Restriction Endonuclease Digestion,” Journal of Assisted Reproduction and Genetics, 14 (1997): 441.

See Ray P.F. Handyside A.H. , “Increasing the Denaturation Temperature During the First Cycles of Amplification Reduces Allele Dropout from Single Cells for Preimplantation Genetic Diagnosis,” Molecular Human Reproduction, 2 (1996): 213–18.

See Handyside Delhanty , supra note 39.

See Zhang L. , “Whole Genome Amplification from a Single Cell: Implications for Genetic Analysis,” Proceedings of the National Academy of Sciences, 89 (1992): 5847–51; and see Delhanty Handyside , supra note 31.

See Xu K.P. , “Primer Extension Preamplification for Detection of Multiple Genetic Loci from Single Human Blastomeres,” Human Reproduction, 8 (1993): 2206–10.

See Harper J.C. , “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,” Human Reproduction, 9 (1994): 721–24.

See Speicher M.R. Gwyn Ballard S. Ward D.C. , “Karyotyping Human Chromosomes by Combinatorial Multi-Fluor FISH,” Nature Genetics, 12 (1996): 368–75; and Weier H.-U.G. , Abstract, “Spectral Imaging in Preconception/Pre-implantation Genetic Diagnosis (PGD) of Aneuploidy: Multi-Color, Multi-Chromosome Screening of Single Cells,” journal of Assisted Reproduction and Genetics, 14 (1997): 479.

See Handyside A.H. , “Preimplantation Genetic Diagnosis Today,” in Edwards R.G. Beard H.K. Howles C.M. , eds., Human Conception In Vitro, 1995 (Oxford: Oxford University Press, 1995): 139–51.

See id.

See Delhanty , supra note 37.

See id.

See Verlinsky , supra note 11.

See Handyside , supra note 54.

See Carson S. , presentation at “Introducing Innovations into Practice: Technical and Ethical Analyses of Preimplantation Genetic Diagnosis and Intracytoplasmic Sperm Injection Technologies” Bethesda, Maryland (June 19, 1992) (on file with authors); and Handyside A. , presentation at “Introducing Innovations into Practice: Technical and Ethical Analyses of Preimplantation Genetic Diagnosis and Intracytoplasmic Sperm Injection Technologies” Bethesda, Maryland (June 19, 1992) (on file with authors).