Genetic test Flashcards
1
Q
Basic of genetic test
A
- Genetic test can be carried out on an individual, family or population
- There is some problem with genetic test as some condition are influence by both environmental factor and genetic factor
2
Q
When can genetic test be carried out
A
- before pregnancy
- during pregnancy
- soon after birth
- childhood
- adulthood
3
Q
Preimplantation genetic diagnostic
A
- IVF is used to create an embryo
- when it divides into eight-cell, one cell is taken out to be examined (this doesn’t affect the development)
- The sex of the embryo, chromosome and DNA is checked for mutations and defect
- If there is any defect, the embryo is discarded
4
Q
When should PGD be used
A
- repeated pregnancy loss due to genetic disorder
- the child has a high risk of having a genetic disorder
- there is a need of cell transplant due to a sick sibling
5
Q
Ultrasound test
A
- An ultrasound is taken to see if there is any identifiable disorder
6
Q
Triple test
A
- the mother blood is taken and the level of three protein is measured. abnormal reading indicate problem
- look specifically for: (AFP,hCG,Oestriol)
7
Q
Non-invasive prenatal diagnosis(NIPD)
A
- Blood sample is taken from a 7 week mother
- DNA of the fetus which isn’t in a cell can circulate through the mother’s blood
- the sample is belive to come form placenta
- Use to detect aneuploids and mutation
8
Q
Chronic villus test
A
- carried out at week 10-13
- chorion sample is required, obtain through a special instrument the enter the vagina guided by ultrasound
9
Q
Amniocentesis
A
- from week 15-20
- amniotic fluid is taken from the mother
10
Q
Newborn screening
A
- Blood is taken from the heel of 2 days old baby to screen for 3 conditions: Phenylketonuria (PKU), congenital hypothyroidism(dwarfism) and Cystic fibrosis
11
Q
PKU
A
- a metabolic disorder where phenylalanine hydroxides function is prevented
- build-up of phenylalanine is harmful to the body
12
Q
congenital hypothyroidism
A
- under the production of growth hormone lead to dwarfism
13
Q
Cystic Fribosis
A
- mutation of the CFTR lead production of a non-fuction protein causing mucus build up in the throat, pancreatic and reproductional duct eventually lead to blockade
- there is no cure
14
Q
Paternity test
A
- DNA is received by a cheek swab
- the DNA is analyse- PCR of a specific region on the chromosome
- half the DNA form a father and child should match each other
15
Q
Adult genetic test
A
- Test for a specific mutation
- predictive or presymptomatic
- determine the risk of having a genetic defect
