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Genetic Screening

Genetic Screening. Your Optimal Child. Pretend that you are ready to have children. Think about your hopes and dreams you have for that child. Guiding questions. Do you want a boy or a girl? What would you want him or her to look like?

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Genetic Screening

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  1. Genetic Screening

  2. Your Optimal Child • Pretend that you are ready to have children. Think about your hopes and dreams you have for that child.

  3. Guiding questions • Do you want a boy or a girl? • What would you want him or her to look like? • What special traits/qualities/talents would you want him/her to have?

  4. Guiding Questions • Are there any traits you would not want your child to have? Why?

  5. Genetic Reproductive Technologies • Today, we can use technology to create life and select life, including: • Gaining genetic information about an embryo or unborn fetus • Help individuals conceive • Allow individuals to select embryos based on their genetic makeup • Genetic screening/testing

  6. Genetic Screening • May alert parents to the potential disorders and diseases their children ma experience before the child is even born • This can be done through: • Chorionic villus sampling (CVS) • Amniocentesis • Preimplantation genetic screening (PGS) • We will get to PGS in a few days

  7. Chorionic Villus Sampling (CVS) • Performed vaginally or via a needle through the abdomen to collect fetal tissue from the placenta • Done at 10-12 week’s gestation

  8. Amniocentesis • Involves inserting a large needle through the pregnant woman’s abdomen, uterus, and amniotic sac to obtain fetal DNA • Done at 15-18 weeks gestation

  9. Amniocentesis and CVS • Both procedures are considered to be “invasive” • Can increase risk of miscarriage • Some discussion about potential birth defects resulting in these procedures • Typically recommended for pregnant mothers over the age of 35 • They are at significantly higher risk of having children with genetic diseases

  10. Information from Amnio/CVS • After the physician takes a sampling of the amnion or placenta, the fetal DNA is tested for certain genetic abnormalities • Looking for • Aneuploidy: an abnormal amount of chromosomes • Genetic mutations: “mistakes” in the DNA code that can cause diseases • Typically scientists are looking for specific ones based on the family history

  11. Now what? • Early diagnosis enables: • Timely medical/surgical treatment of a condition before or after birth • Parental choice to abort a fetus with the diagnosed condition • Ethics Committee of the hospital must be consulted before an abortion can take place if after Week 12 • Time for preparation in the psychological, social, financial, and medical science for a baby with a health problem or disability

  12. Diseases Detected • Down’s Syndrome • Tay-Sach’s • Sickle cell disease • Cystic fibrosis • Muscular dystrophy • Turner Syndrome • Anencephaly • Spina bifida • Fragile X syndrome • Huntington’s Disease • Choose one of the following and create a Ppt in a group of 3 detailing: • The method of detection • Cause of the disease • Symptoms of the disease • Explanation of what life is like • Ie life expectancy, level of care, health risks, etc

  13. A Non-Invasive Alternative: PGD • Preimplantation Genetic Diagnosis (PGD) • Method used to diagnose genetic conditions when the embryo is at the 8-cell stage • Yes, you heard me right: 8 cells

  14. Only available to couples undergoing in vitro fertilization (IVF) • Fertility treatment • Women given hormone injections to produce multiple eggs that are then placed in a petri dish with sperm • 1 or more embryos are then transferred to the woman’s uterus

  15. PGS: How it works • Because the embryo is isolated in a petri dish before being implanted into the uterus, scientists can easily manipulate the cells • At this stage, all cells in the embryo are totipotent • This means that all cells can turn into another embryo if they are isolated • The cells are not yet differentiated so their fate has not yet been determined • Significance: You can extract one cell from the embryo and it won’t miss it

  16. PGS: How it works • After the cell has been extracted, its DNA is analyzed • Scientists look for • Aneuploidy • genetic mutations • other markers that would indicate any childhood disease or adult-onset diseases

  17. Since multiple embryos have been formed and tested, only the embryos that are free of genetic mutation will be implanted • Couples can hand-pick the embryos they want • http://youtu.be/2ixEDLa3Jlc

  18. Legislation • In the US, there is currently no regulation of the use of PGD • Left entirely to the discretion of providers • For example, one clinic may allow for gender selection while another may only use PGD to screen for severe genetic conditions

  19. Legislation • PGD is not allowed to performed in Germany, Switzerland, Ireland, Australia, and Austria • This has given rise to “medical tourism” • Other countries, like Japan, UK, and France have government regulation and legislation defining how PGS can and cannot be used

  20. My Sister’s Keeper • One application of PGS is to conceive a child that could be a donor to a sibling with a disease

  21. Molly and Adam Nash • Molly was born in 1994 with Fanconi Anemia (FA) • Genetic condition • Cells cannot repair their own DNA • In order to save her life, she needed a stem cell transplant to save her life

  22. Molly’s parents decided to conceive a child using IVF and PGD so they could increase their chances of having as child without FA who would also be a perfect match for Molly • Brother Adam was born and he donated cord blood stem cells to his sister • Molly recovered and both children are doing well

  23. Was this ethical on the parents’ part? • How might this impact their family dynamic? • How would you feel if you were Adam?

  24. Knowledge is Power • What are some possible negative consequences of having the power to “hand-pick” embryos?

  25. Sex Selection • PGS allows for sex selection • Couple can determine if they would like to implant a male or a female embryos

  26. In the wrong hands…. • Consider the cultural implications of selecting the sex of the baby • In some cultures, boys are highly prized over female children • Carry on the family name • Inherit property • What message does this send to males and females? • Would this result in gender discrimination

  27. http://www.youtube.com/watch?v=ltVsGdmKsT4

  28. Distributive Justice • IVF is a very expensive treatment to begin with, as well as conducting all of those genetic tests • Is it fair to ensure that only to those who can afford it be allowed to have children free of genetic diseases?

  29. Preferential Selection based on Disease • Couples can select based on the “cleanliness” of the genetics of the embryo • Can choose to have a child free of common and testable genetic diseases

  30. Could this result in discrimination of the disabled? • Scenario D • Should there be government regulation of the reasons why these embryos can be discarded or selected against?

  31. History’s Dirty Past: Eugenics • Eugenics = “good genes” • Philosophy: by preventing the population of genetically inferior individuals from reproducing, many societal issues would be solved

  32. Targeted immigrants • They were “genetically inferior” • Poor • “genetically lazy and unintelligent

  33. In America, many individuals were sterilized against their will • Nazi Germany took this a step further by euthanizing undesirables • Jews • Homosexuals • Mentally ill • Disabled

  34. Given the resources available to the poor and the ability to eliminate those with disease, is PGS a slippery slope to eugenics?

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