screening

Question 1

what diseases does the newborn blood spot test screen for

Answer 1

-sickle cell
-cystic fibrosis
- congenital hypothyroidism
- PKU
- MCADD
- MSUD
-IVA
- GA1
- HCU

Question 2

what does the screening for infectious diseases screen for

Answer 2

• HIV
• hepatitis B
• syphilis

Question 3

what does screening for inherited diseases screen for

Answer 3

sickle cell and thalassaemia

Question 4

what happens if mother is found to be a carrier for sickle cell or thalassaemia

Answer 4

the father is then offered screening

Question 5

what is the ideal time to complete screening for infectious diseases

Answer 5

before 10/40

Question 6

what is the ideal time to complete screening for inherited disorders

Answer 6

by 10/40

Question 7

what is the ideal time to screen for Downs Edwards and Pataus

Answer 7

10-14/40

Question 8

what 11 conditions are screened for at 20 week scan

Answer 8

• anancephaly
• open spina bifida
  -cleft lip/ palate
• gastroschisis
  -exomphalus
• diaphragmatic hernia
  -serious cardiac abnormalities
• bilateral renal agenesis
• severe skeletal dysplasia
• Edwards
• Pataus

Question 9

what is PKU

Answer 9

phenylketorunia - means amino acid phenylalanine cannot be broken down and builds up in blood and brain and can cause brain damage