Mutations

• Point Mutation


  Point mutation is an alteration within a nucleotide base in which one pair in the DNA pattern is changed. Three point mutations include substitution, insertion and deletion. EG DiGeorge syndrome is through small portion of chromosome 22.
• Chromosomal Mutation


  Chromosomal mutation adjust segments of chromosome structures or number of chromosomes. This includes deletion, duplication, inversion, translocation and non-disjunction. EG leukemia is when a portion of chromosome 9 is attached to portion of chromosome 22 and creates mutated protein.
• Genomic Mutation


  Genomic mutation is through changes in DNA patterns of genomes. EG Huntington's disease abnormally repeats CAG in DNA sequence.
• Sickle Cell Disease


  Sickle cell disease is hereditary and is autosomal recessive. The mutation is inherited from the paternal and maternal side and impacts shape of red blood cells.
• Reproductive Technologies: Pregnancy Ultrasound

  Soundwaves that bounce off from the baby and reproductive organs. Sound waves transform them into images on the screen and can determine the growth of the baby, how far along the pregnancy is and any potential risks within the pregnancy.

  
  

  BENEFITS: Non-invasive and painless for the mother and baby

  DRAWBACKS: Images are not 100% accurate and may create faults in conditions within the baby.
• In Vitro Fertilisation


  IVF is a treatment for infertility. Collected mature eggs from the ovaries are fertilised by sperm inside of a lab. Egg placed into uterus, which is where baby begins develop. Done as a treatment for infertility or any genetic issues. This process can protect the egg or embryo from bad environments. IVF can be done due to conditions such as endometriosis or issues with sperm cells.

  BENEFITS: Increased rate of pregnancy, controlled environment

  DRAWBACKS: Complications related to egg retrieval or embryo transfer, no guarantee of pregnancy or live birth