Diagnostic Genetic Testing

Question 1

List 7 prenatal diagnosis techniques.

Answer 1

Maternal serum test
Ultrasound
Ultrasound for gender 
isolation of foetal cells from maternal serum
Amniocentesis 
Chronic villus sampling 
Pre-implantation genetic diagnosis

Question 2

List three non-invasive prenatal testing techniques.

Answer 2

Maternal serum tests
Ultrasounds
Ultrasounds for gender
Isolation of foetal cells from maternal serum

Question 3

List three invasive prenatal techniques.

Answer 3

Amniocentesis

Chronic villus sampling

Question 4

In what cases may prenatal diagnosis take place?

Answer 4

Family history
Tested as carriers
Increasing maternal age
Risk of a neural tube disorder
Abnormal results from ultrasounds
Routine

Question 5

Explain what amniotic fluid alpha-fetoprotein (AFAFP) diagnosis is?

Answer 5

Detection of alpha-fetoprotein in the amniotic fluid, high levels of which are associated with NTD.

Question 6

What is alpha-fetoprotein?

Answer 6

Glycoprotein produced by the foetal liver, which circulates in the foetal serum and is later secreted into the amniotic fluid.

Question 7

What is maternal serum alpha-fetoprotein screening?

Answer 7

Non-invasive screening for alpha-fetoprotein using the mother’s serum.

Question 8

What is Pregnancy associated plasma protein (PAPP-A)?

Answer 8

Protein that occurs in decreased quantities during the first semester when pregnancy involves trisomy.