Lecture 25 - Cystic Fibrosis

Question 1

Newborn Screening process?

Answer 1

20+ disorders, 45 babies p/yr diagnosed

Question 2

Cf phys?

Answer 2

CFTR mutation, Cl- cannot leave cell due to misformed receptor causing NA+ and wateer influx leaving thick sticky mucus

Question 3

CF newborn screen?

Answer 3

Build up of trypsin (pancreatic enzyme) in blood due to blocked duct

Question 4

Testing whether baby has Cf or is carrier?

Answer 4

sweat test, genetic test, stool sample for enzymes

Question 5

Progressions for infant CF?

Answer 5

recurrent pneumonias, progressive lung disease, poor growth

Question 6

managing baby w CF?

Answer 6

regular review - history, growth, physical signs

Question 7

Physical signs of CF?

Answer 7

finger clubbing, chest deformity, cough

Question 8

Management - respiratory testing

Answer 8

oxygen saturation monitoring, lung function testing, radiology

Question 9

Management - check for infection?

Answer 9

swab, couh suction machine, bronchoscopy, sputum

Question 10

Treatments - respiratory?

Answer 10

respiratory chest physio, exercise, antibiotics

Question 11

Treatments - nutrition?

Answer 11

enzyme replacement, vitamin supplement, salt, hugh calorie diet, nutritional supplement, gastrostomy feeding

Question 12

Treatments - other?

Answer 12

correctors (correcting defect) or potentiators (improving channel opening) - different defects from different genes.

Question 13

Genetic Counselling Definition?

Answer 13

Communication process aiming at helping individuals, couples and families understnd and adapt to medical, psychological, familial and reproductive implications of genetic contributions specific health conditions

Question 14

GC topics?

Answer 14

reviewing diagnosis, answering questions, arrange testing, checking coping, referrals

Question 15

Considerations for GC?

Answer 15

non paternity, informed consent, stress of diagnosis, guilt, future options

Question 16

Family planning factors?

Answer 16

Donation, cessation, influenced by ethical & religious beliefs, treatment and financial availability

Question 17

Fetal sign of cystic fibrosis?

Answer 17

Meconium pseudocyst

Question 18

DNA sources for testing?

Answer 18

trophoblast (early placenta - CVS), fetal cells (fibroblasts in amniotic fluid)

Question 19

Advantages of CVS?

Answer 19

early, direct DNA extraction

Question 20

Disadvantages of CVS

Answer 20

difficult, maternal cell contamination risk (1%)

Question 21

Advantages of Amniocentesis?

Answer 21

easy

Question 22

Disadvantages of amniocentesis?

Answer 22

later in pregnancy (14wk), longer processing time

Question 23

Benefit of NIPT?

Answer 23

no miscarriage risk, simpler, earlier result