Genetic Testing

Genetic Testing

·        Types of test:

o  Screening tests: done on normal population to identify those at risk (not diagnostic)

o  Diagnostic tests to confirm the presence of disease

·        Guthrie Card – for screening all neonates:

o  Second test needed in about 1 in 100 babies (usually due to poor sample)

·        Indications for neonatal genetic testing: Physical, growth or developmental disorders:

o   Still birth

o   Multiple congenital abnormalities

o   Small for age

o   Facial dysmorphia

o   Significant mental retardation

o   Post-natal growth retardation

o   Microcephaly

Other

·        Agenesis: complete absence of an organ

·        Aplasia: absence of an organ with the persistence of an undeveloped rudiment

·        Anencephaly: congenital absence of cranial vault – with cerebral hemispheres completely missing