Genetic Screening (Edexcel International A Level Biology)

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Naomi H


Naomi H



Uses of Genetic Screening

  • Some circumstances, e.g. in a pregnancy where there is a family history of a genetic disorder, may require individuals to determine if they have a particular allele present in their genome
  • This can be determined by genetic screening
  • There are three main uses of genetic screening
    • Identifying individuals who carry an allele at a gene locus for a particular disorder
    • The screening of embryos prior to implantation during fertility treatment; this is Preimplantation Genetic Diagnosis (PGD)
    • Testing a foetus before birth; this is prenatal testing

Identification of carriers

  • Carrier testing is offered to individuals with a history of genetic disorders in their family
  • It can show whether people who have no symptoms carry the allele for particular disorders, such as cystic fibrosis
    • Cell samples can be extracted from, e.g. blood or saliva, before being tested for the presence of specific alleles
  • Couples can be tested prior to having children to determine the probability of future children inheriting the disorder
  • Some of the benefits of carrying out genetic screening at this stage include
    • Families can make informed decisions before having children
    • Women can decide whether to have prenatal testing during pregnancy

Preimplantation Genetic Diagnosis (PGD)

  • IVF, or in vitro fertilisation is a type of fertility treatment during which fertilisation is carried out in the lab; embryos produced in this way can be implanted into the uterus where they develop into a foetus
  • Sometimes a couple might choose to have a child by IVF if they know that they are at increased risk of certain genetic disorders, as it allows them to screen any embryos produced using PGD
  • 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
  • Benefits of PGD include
    • Evidence suggests that the process does not harm the embryo in any way
    • Reduces the chances of having a baby with a genetic disorder
    • It avoids abortion as it is carried out before implantation of the embryo
      • It is worth noting that some people believe that an embryo is as worthy of human status as a foetus or a baby, so the discarding of affected embryos after PGD is not ethically straightforward for everyone

Prenatal testing

  • Prenatal testing is offered to pregnant women with a family history of genetic disorders
  • It involves testing the foetus for genetic diseases during the course of a pregnancy
  • The DNA can be obtained by chorionic villus sampling or amniocentesis in the uterus
  • Chorionic villus sampling
    • This 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
    • Advantages of this process include
      • It is carried out at around 11-14 weeks of pregnancy, so any problems can be picked up early on
      • A relatively large tissue sample can be collected, providing plenty of cells to analyse
      • Results are available rapidly
    • Potential implications of chorionic villus sampling that should be considered include 
      • The process has a  1-2 % risk of miscarriage
      • The process cannot pick up any disorders that are caused by alleles of genes located on the paternal X chromosome, as this chromosome is inactive in the placental cells sampled
  • Amniocentesis
    • This 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
    • Potential implications of amniocentesis that should be considered include
      • It is carried out at around 15-20 weeks of pregnancy; this is relatively late in the pregnancy, making decisions about abortion more difficult for some parents
      • The procedure has a 1 % risk of miscarriage
      • It takes 2-3 weeks for results to be available
  • Benefits of prenatal testing include
    • The tests allow parents to make informed decisions about the progress of a pregnancy
    • Results can help parents prepare for the future care of the child, including medical treatment

Implications of Prenatal Genetic Screening

  • Prenatal genetic screening involves analysis of the DNA of a foetus taken from the uterus during pregnancy
    • Examples of prenatal screening methods include chorionic villus sampling and amniocentesis
  • Both forms of prenatal screening come with associated risks and potential ethical dilemmas, so it is important that parents considering this type of screening have thought about the implications
    • Positive implications
      • Prenatal screening can provide advance notice of the birth of a child with a genetic disorder, giving time for parents to be educated and to make decisions about medical treatments
      • The risk of harm to the foetus during prenatal screening are low; around 1-2 % for both methods
      • Some parents may feel able to make the decision to end a pregnancy on discovering that a foetus has a life-limiting or potentially fatal diagnosis
      • Some parents may choose to continue with a pregnancy after receiving a fatal diagnosis, but they have time to process the results and grieve before the birth of a child who may not survive for long outside the uterus
      • Genetic counsellors are available to help parents think through the results of prenatal testing
    • Negative implications
      • Both methods of prenatal screening bring a small risk of miscarriage
      • Amniocentesis provides results relatively late in pregnancy, making decisions about termination of a pregnancy very difficult for some parents
      • Prenatal screening is not 100 % accurate
        • False positive results may lead to the termination of a healthy pregnancy
        • False negative results may give false expectations for the health of a foetus
      • Parents may experience pressure from society or their medical team to abort a foetus with a genetic disorder
      • Some parents may believe that a foetus has human status even very early on during a pregnancy, meaning that they would not consider abortion to be an option even after early testing

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Naomi H

Author: Naomi H

Naomi graduated from the University of Oxford with a degree in Biological Sciences. She has 8 years of classroom experience teaching Key Stage 3 up to A-Level biology, and is currently a tutor and A-Level examiner. Naomi especially enjoys creating resources that enable students to build a solid understanding of subject content, while also connecting their knowledge with biology’s exciting, real-world applications.