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Detecting Genetic Conditions - Coggle Diagram
Detecting Genetic Conditions
Edwards Syndrome Trisomy 18
Small head, jaw and mouth
Upturned nose
Widely spaced small eyes
Narrow eyelid folds
The hands may be clenched,
Second and fifth fingers overlapping
Thumbs may be missing
Webbing of the second and third toes
Sever mental and physical disabilities
Many do not survive until fist birthday
Patau Syndrome
Patau's syndrome is a serious rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the offspring's body cells. (Sometimes called trisomy 13)
This severely disrupts normal development and may in many cases result in miscarriages and still birth
Babies with Patau's syndrome grow slow in the womb and result in low birth weight with a number of serious medical problems
Patau's syndrome affects about 1 in 5000 births and risks of having a baby with Patau syndrome increases with the mother's age.
Triple X syndrome (XXX)
Triple X syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills
There may also be delayed development of motor skills (such as sitting and walking) and weak muscle
Detection
Chorionic Villus Sampling (CVS)
Optional and performed 11-14 weeks of pregnancy where cells taken can be tested for chromosomal condition, such as Down's syndrome, Edwards' syndrome or Patau's syndrome, has been found.
A fine needle inserted through the abdomen or cervix is used to take a tiny sample of tissue from the placenta. The tissue taken has the same genes as the embryo and can be tested for conditions named above.
Risks: small chance of miscarriage- 1 in 455
Preimplantation genetic diagnosis (PDG)
During IVF embryos are fertilised in the laboratory and implanted into the mothers uterus. Before the embryo is implanted into the uterus, a few cells can be removed from the embryo ( this will not affect the development) where the cells can be analysed for genetic conditions