Assessment and Screening

Question 1

What does micro/macrocephaly mean?

Answer 1

• Small/large head

Question 2

What does hypertelorism mean?

Answer 2

• Eyes too far apart

Question 3

What does syndactyly mean?

Answer 3

• Joined up fingers/toes

Question 4

What is pre-implantation diagnosis?

Answer 4

• Two cells removed for testing at 3 days when embryo contains 6-10 cells
• Then FISH, QF-PRC or PCR to check for mutations

Question 5

What genetic conditions can be screened for in pregnancy?

Answer 5

• NTDs (foetal US)

- Down syndrome (CUBS screening in 1st trimester, maternal blood biomarkers)

Question 6

• What is tested for on the Guthrie card?

Answer 6

• Phenylketonuria or MCADD (mass spectrometry)
• Congenital hypothyroidism, CF (immuno-assay)
• Sickle cell disorder (HPLC)