cystic fibrosis

Question 1

newborn screening measures for cystic fibrosis

Answer 1

blood trypsin levels

if high, genetic testing for the 3 common CF genes

Question 2

next step if newborn screen test comes back positive

Answer 2

1. sweat test
2. another genetic test
3. stool sample for enzymes (e.g. chymotrypsin)

Question 3

management of CF

Answer 3

regular review (history, growth, physical signs)

respiratory testing (O2 saturation, lung function test, scans)

regular checks for infection (cough suction)

Question 4

treatment for cystic fibrosis

Answer 4

respiratory = physio, exercise, antibiotics

nutrition = enzymes, vitamins, salt supplements

other - now including specific gene therapies

Question 5

advantages of CVS

Answer 5

early in pregnancy

direct DNA extraction

Question 6

disadvantages of CVS

Answer 6

technically more difficult than amniocentesis

1% chance of miscarriage

Question 7

advantages of amniocentesis

Answer 7

technically easier than CVS

Question 8

disadvantages of amniocentesis

Answer 8

late in pregnancy
longer processing time
1% chance of miscarriage

Question 9

benefits of non-invasive prenatal screening

Answer 9

-no risk of miscarriage
-simpler, less stressful
-earlier result
-preparation for affected
(not currently in NZ)