Unit 1 - Antenatal and postnatal screening

Question 1

What does antenatal screening do?

Answer 1

Identifies risk of a disorder so further tests can be done and prenatal diagnosis given.

Question 2

What does ultra sound do?

Answer 2

dating scans check for due date and used in conjunction with testing for marker chemicals (8-14 weeks), anomaly scans detect physical abnormalities (18-20 weeks)

Question 3

Blood and urine tests?

Answer 3

Check for chemical markers. An atypical chemical concentration can lead to diagnostic testing to determine medical condition. Can be a false +ve if done at wrong time.

Question 4

Diagnostic testing?

Answer 4

Cells taken from samples cultured to produce a karyotype to help diagnose a range of conditions.

Question 5

What is a karyotype?

Answer 5

An individuals chromosomes arranged as homologous pairs

Question 6

What is amniocentesis?

Answer 6

Cells from amniotic fluid

Question 7

What is Chronic villus sampling?

Answer 7

Cells from placenta

Question 8

What is it called when its rare and skips generations?

Answer 8

Autosomal recessive

Question 9

What is it called when it’s in every generation and every sufferer has an affected parent, when it fails to appear in a generation it dies out?

Answer 9

Autosomal dominant

Question 10

What’s it called when its partially expressed form is much more common, and every fully expressed sufferer has 2 partially expressed parents?

Answer 10

Autsomal incomplete dominance

Question 11

What is PKU? (Phenylketonuria)

Answer 11

Substitution mutation which causes the enzyme which converts phenylalanine to tyrosine to not work
Sufferers placed on strict diet