genetic_testing_1

genetic_testing_1 - Genetic Testing Issues and Assisted...

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Genetic Testing Issues and Assisted Reproduction Retinal Blastoma—neural cancer in eye, usually found in very young children (infants-age 5) o Strong genetic link—absence of Rb gene on chromosome 13. o Cancer in both eyes indicates heredity o Untreated, nearly 100% fatal, with treatment 90% survival rate.
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o Strong risk of brain tumor development, treatable with surgery and chemotherapy o RB detectable with genetic testing prenatally o Preimplantation genetic diagnosis (PGD) along w/ IVF can test for retinal blastoma prior to implantation
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o Is it ethical to use assisted reproduction to ensure a healthy baby? For infertile couples? For couples who already have healthy children? For couples who already have one child with a genetic disorder or who know one or both is a carrier for a genetic disorder?
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For which genes/disorders? o Down’s Syndrome o PKU (Phenylketonuria) o CF (Cystic Fibrosis) o Tay Sachs disease o Sickle Cell Anemia o Huntington’s Disease o Breast Cancer (some families) o Alzheimer’s Disease (some families)
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Prenatal vs. Preimplantation genetic testing: o Prenatal testing done in utero Amniocentisis: sample of amniotic fluid taken from uterus, tested for genetic traits (including sex) - Testing usually done in 15-16 week of pregnancy - Results may take several weeks
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Chorionic villi sampling (CVS): cells taken from placenta - Testing can be done in 10 th week - Results typically take only 1 week - Higher risk of miscarriage than amniocentesis
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o Preimplantation genetic diagnosis (PGD) Testing done through IVF prior to implantation Only embryos w/out genetic abnormalities implanted
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preimplantation o Preimplantation Discrimination based on disability? Nonmedical screening (i.e., sex selection)
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  • Spring '09
  • STINE,MICHELE
  • genetic testing, Prenatal diagnosis, Assisted reproductive technology, IVF, Preimplantation genetic diagnosis

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genetic_testing_1 - Genetic Testing Issues and Assisted...

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