Genetic screening Flashcards

1
Q

Why do some people use genetic screening?

A
  • if there is a family history of a genetic disorder, individuals may use genetic screening to determine if they have a particular allele in their genome
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2
Q

What is IVF? What does it stand for?

A
  • IVF, in vitro fertilisation is a type of fertility treatment during which fertilisation is carried out in the lab
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3
Q

What does pre-implantation genetic diagnosis (PGD) involve? How is DNA analysed? What is a disadvantage?

A
  • PGD involves analysis of the DNA of an embryo prior to implanting it into the uterus
  • the sample of DNA to be analysed can be obtained by taking cell samples from embryos produced during IVF
  • disadvantage is its expensive
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4
Q

What are the benefits of IVF and PGD?

A
  • reduces the chances of having a baby with a genetic disorder
  • it avoids abortion as it is carried out before implantation of the embryo
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5
Q

What does chorionic villus sampling (CVS) involve? When is it carried out? What is the chance of miscarriage?

A
  • CVS involves removing and testing a small sample of cells from the placenta using a fine needle
  • the cells contain foetal DNA which can be analysed for genetic disorders, allowing parents to make informed decisions about the pregnancy and foetus
  • it is carried out at around 8-12 weeks of pregnancy
  • the process has a 1-2% risk of miscarriage
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6
Q

What does amniocentesis involve? How is DNA analysed? What is the chance of miscarriage?

A
  • amniocentesis involves removing and testing a small sample of cells from amniotic fluid using a fine needle
  • the amniotic fluid is the fluid that surrounds the foetus within the uterus
  • the fluid contains foetal cells which contain DNA to be analysed
  • it is carried out at around 15-17 weeks of pregnancy
  • the procedure has a 1% risk of miscarriage
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7
Q

What are the benefits of CVS and amniocentesis?

A
  • tests allow parents to make informed decisions
  • results can help parents to prepare for the future care of the child, including medical treatment
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8
Q

What does NIPD stand for? How does it work?

A
  • NIPD stands for non-invasive prenatal diagnosis
  • this works by analysing DNA fragments in the mothers blood plasma during pregnancy
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9
Q

What does implantation mean?

A
  • the stage of human reproduction at which the embryo attaches to the wall of the uterus
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10
Q

What are the arguments against genetic screening

A
  • its expensive
  • it implies that offspring with genetic problems are undesirable, this could lead to prejudice
  • PGD could lead to ‘designer babies’, embryos could be selected for more than just health, e.g. eye colour
  • CVS has an increased risk of miscarriage
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11
Q

What are arguments for genetic screening?

A
  • it helps to stop people suffering from genetic disorders
  • treating disorders costs the government and taxpayers, so screening could reduce healthcare costs
  • parents have time to prepare for a child with a genetic disorder or decide to have an abortion
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