Newborn screening Flashcards
1
Q
What are the Wilson and Jungner criteria for screening?
A
- Disease must be sufficiently common
- Natural history must be known
- Early therapeutic intervention beneficial
- Acceptable and affordable screening test
- Diagnostic confirmatory test
2
Q
Which disorders are newborns screened for in the UK?
A
- PKU
- Congenital hypothyroidism
- Sickle cell and Hb disorders
- CF
- MCADD
- MSUD
- IVA
- Homocystinuria – pyridoxine responsive
- GA1
3
Q
What is phenylketonuria?
A
- Affects 1: 10,000 Caucasian births
- Severe mental retardation untreated
- Excellent prognosis if treated from birth
- Screening test: bloodspot phenylalanine
- Confirm diagnosis with plasma phenylalanine measurements - no need to measure enzyme or DNA
4
Q
What is congenital hypothyroidism?
A
- Affects 1: 1,500 UK births
- Severe developmental delay untreated
- Excellent prognosis if treated from birth
- Screening test: bloodspot TSH
- Confirm diagnosis with plasma thyroid function tests, no need to measure enzyme or DNA
5
Q
What are the merits of screening for sickle cell disease?
A
- 20% children with undiagnosed SCD may die during first 2 years of life
- Acute infection
- Acute splenic sequestration
- Cerebrovascular accident – stroke
- Screening provides improved outcomes
- Initiate prophylactic penicillin
- Parental education
6
Q
What kind of disorders can be screened for using tandem mass spectroscopy?
A
- Amino acid disorders
- Fatty acid oxidation defects
- Organic acidaemias
