Genetics

Question 1

What are the approaches to investigating a patient with a suspected genetic disease?

Answer 1

Obtaining a full history
Establishing an accurate diagnosis
Drawing a family tree
Estimating the risk of future children
Genetic screeing

Question 2

What test can be used to sample placenta cells?

Answer 2

Chrorionic Villus Biopsy

Question 3

What test can be used to sample baby’s skin and urine cells?

Answer 3

Amniocentesis

Question 4

What is non-invasive prenatal testing?

Answer 4

Taking a blood sample from the mother and identifying free foetal DNA

Question 5

What can free foetal DNA tell us?

Answer 5

Sex determination
Trisomy testing
It can also occasionally identify chromosome deletions and single gene mutations

Question 6

What is a confined placental mosaicism?

Answer 6

When the tissue of the placenta has an abnormal number of chromosomes, but the foetus itself has a normal number of chromosomes.

Question 7

What may cause a false positive in non-invasive prenatal testing?

Answer 7

Maternal malignancy
Placental mosacism
Inadequate sample

Question 8

When would an amniocentesis be used?

Answer 8

If a non-invasive prenatal test revealed something iregular

Question 9

What mechanism of invasive testing can look for chromosome abnormalities?

Answer 9

Chromosome microarray

Question 10

What mechanism of invasive testing can look for single gene changes?

Answer 10

PCR/sequencing

Next generation sequencing

Question 11

What genetic conditions would you rapidly test for?

Answer 11

Myotonic dystrophy
Spinal muscular atrophy
Prader-willi syndrome