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The S cientific and Ethical I mplications of Modern Genetics in Prenatal Diagnosis

The S cientific and Ethical I mplications of Modern Genetics in Prenatal Diagnosis. Antonio, Nathaniel Ibana , Lerrie Diane Tolentino , Maria Leonora Wayas , Hilda. Genetic Testing.

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The S cientific and Ethical I mplications of Modern Genetics in Prenatal Diagnosis

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  1. The Scientific and Ethical Implications of Modern Genetics in Prenatal Diagnosis Antonio, Nathaniel Ibana, Lerrie Diane Tolentino, Maria Leonora Wayas, Hilda

  2. Genetic Testing • analysis of human DNA, RNA, chromosomes, or proteins used to detect abnormalities related to an inherited disorder • direct testing • linkage testing • biochemical testing • cytogenetic testing

  3. Genetic Testing • Diagnostic testing • used to confirm or rule out a known or suspected genetic disorder in a symptomatic person • Prenatal testing • used to identify the genetic status of a pregnancy at risk for a genetic disorder • Down Syndrome • Jacob’s syndrome

  4. Genetic Testing • Preimplantationtesting • used to select early embryos for implantation that have been conceived by in vitro fertilization

  5. Techniques Amniocentesis PreimplantationGenetic Diagnosis (PGD)

  6. Origins of Extra Chromosomes

  7. Ethical Issues Dual obligations: to the pregnant woman and to the fetus Option for elimination of Lives that cannot be cured Value Judgement Selective Breeding

  8. DOWN SYNDROME: Offer of Prenatal Diagnosis

  9. Down syndrome (47, 21+) • Trisomy of chromosome 21 • Affects 1 infant in every 800 live births • KARYOTYPING - The chromosome complement of a cell or an individual. - Used to refer to the arrangement of metaphase chromosomesin a sequence according to length and centromere position Figure 1. Karyotype of a child with Down Syndrome. The karyotype, three members of the G-group chromosome 21 are present, creating the 47, 21+ condition.

  10. DOWN SYNDROME (47, 21+) • bear a striking resemblance to one another • short and may have a protruding, furrowed tongue • short, broad hands with characteristic palm and fingerprint patterns • Physical, psychomotor,andmental development are retarded, and poor muscletoneis characteristic Figure 2. A photograph of a child with down syndrome hugging her normal unaffected sister (on the left)

  11. DOWN SYNDROME (47, 21+) • CASE STUDY Aged mother had a higher probability of having an offspring afflicted with Down syndrome Figure 3. Incidence of Down syndrome related to maternal age.

  12. DOWN SYNDROME (47, 21+) • SOLUTION • Genetic counseling • prenatal diagnostic • Amniocentesis • chorionic villus sampling • Karyotyping Figure 4. Amniocentesis and Chorionic Villus sampling

  13. DOWN SYNDROME (47, 21+) • ETHICAL/LEGAL/SOCIAL ISSUES • If the fetus is diagnosed as affected, a therapeutic abortion is an option to parents • Difficult decision involving religious and ethical issues

  14. Jacob's syndrome XXY

  15. Jacob's syndrome/XYY syndrome Taller than average Learning disabilities Delayed development of motor skills Behavioral and emotional difficulties

  16. Jacob's syndrome/XYY syndrome In 1961, Avery Sandberg was karyotyped In 1965, a geneticist published findings that a large number of men in prison were found to have an extra Y chromosome.

  17. Jacob's syndrome/XYY syndrome In 1970, this led to women having abortions Richard Speck, a killer, pretended to be an XYY to obtain leniency, thus reinforcing that the "XYY's are criminals"

  18. Jacob's syndrome/XYY syndrome Jon Beckwith proved that violence and aggression were not related to Jacob’s syndrome There is no over-representation of XYY men in prison(Arch. Gen. Psych. 41: 93, 1984)

  19. Savior siblings

  20. Savior siblings • Pre-implantation Genetic Diagnosis (PGD), 1989 • In Vitro Fertilization (IVF) • Embryo Biopsy • Fluorescent In Situ Hybridization (FISH) • Polymerase Chain Reaction (PCR) • Beta Thalassaemia, Diamond BlackfanAnemia, Fanconi’sAnemia, Acute PromyelocyticLeukemia (APL), Hyper IgM Syndrome

  21. Savior siblings

  22. Savior siblings • Legal Issues • Consent of a Minor • Available Guidance • Ethical Issues • “Designer Babies” • Social Sex Selection • Welfare of the Child • Physical & Psychological Impacts • Future donations

  23. Savior siblings • ITALY (2004) • Prohibits PGD • IVF: No more than three (3) ova at a time • UK – Human Fertilization and Embryology Authority (HFEA) • Hashmi Family (Beta Thalassanemia) and Whitaker Family (Diamond-BlackfanAnemia) • HFEA Act of 1990: Prohibited activities in connection with embryos and gametes • GERMANY(2005) • In vitro treatments should only ensure for the embryo survival • AUSTRALIA – Infertility Treatment Authority (ITA) • Use of PGD for terminally ill sibling • FRANCE & NORWAY (1994) • Genetic or chromosomal irregularity in the parents • Allow therapeutic uses of PGD, but not for enhancement purposes or sex-selection • Norway: “serious, untreatable, hereditary diseases” • USA • Nash Family (Fanconi’sAnemia) • Allows PGD, both for treatment and sex-selection

  24. Conclusion Prenatal genetic screening is necessary to prepare susceptible parents for the birth of child with expected conditions Beneficiary to fetus in some cases Necessary for the effective treatment of fetalconditions (ultimate aim)

  25. Conclusion Current methods of obtaining material for prenatal testing often involve risk to the fetus and mother The power to diagnose fetal conditions exceeds the power to treat them Selective abortion of the affected fetuswill remain an important alternative.

  26. Our Beliefs Prenatal Genetic Testing is necessary not for selective abortion but for information, precaution and preparation PGD is ethically permissible for its primary purpose

  27. Literature Cited Bernhagen, V. Savior siblings: A legal and ethical perspective. Hamline University School of Law, Minnesota. Botkin, J. R. (1998). Ethical issues and practical problems in preimplantation genetic diagnosis. The Journal of Law, Medicine & Ethics, 26(1), 17–28. Csukas, B. (2008). Preimplantation genetic diagnosis and savior siblings (Honors Thesis). Ball State University Muncie, Indiana. De Jong, A., Dondorp, W. J., Frints, S. G. M., De Die-smulders, C. E. M., & De Wert, G. M. W. R. (2011). Advances in prenatal screening: the ethical dimension. Nature Reviews. Genetics, 12(9), 657–63. doi:http://dx.doi.org/10.1038/nrg3036

  28. Literature Cited Fasbender, W. (2009). The savior child: Having a child to save a sibling… Is this right? The Journal of Undergraduate Nursing Writing, 3(1): 18–24. Gates, E. A. (1993). Ethical considerations in prenatal diagnosis. Western Journal of Medicine, 159(3), 391–395. Pagon, R. A., Hanson, N. B., Neufeld-Kaiser, W., & Covington, M. L. (2001). Genetic testing. Western Journal of Medicine, 174(5), 344–347.

  29. Literature Cited Taylor, A. (2008). A guide to pre-implantation genetic diagnosis. UK: Galton Institute. Taylor-Sands, M. (2010). Reconsidering the role of the welfare of the child principle in regulating pre-implantation tissue typing in Australia (Doctoral Dissertation). Melbourne Law School – University of Melbourne, Australia.

  30. Literature Cited • "47, XYY syndrome." Genetics Home Reference. N.p., n.d. Web. 14 March 2014 <http://ghr.nlm.nih.gov/condition/47xyy-syndrome>. • "47,XYY Syndrome." Net Health Book.com. N.p., n.d. Web. 14 March 2014. <http://www.nethealthbook.com/articles/47xyysyndrome.php>. • "Jacob’s syndrome." Healthcare Informationn Directory. N.p., n.d. Web. 14 March 2014 <http://www.ihealthdirectory.com/jacobs-syndrome/>. • "XYY -- Stereotype of the Karyotype ." pathguy.com. N.p., n.d. Web. 14 March 2014 <http://www.pathguy.com/xyy.htm>.

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