Common metabolic and genetic tests
Screening newborns is important for the early detection, diagnosis, and treatment of certain genetic, metabolic, and infectious diseases. This is usually done within a few days of birth. Screening is currently recommended for visual problems, hearing problems, congenital heart disease, detection of congenital malformations, delayed descent of testicles, and dislocation of the hip.
Laboratory testing is used throughout Australia for screening for the detection of a number of congenital metabolic diseases.
There are five centralised screening laboratories in Australia that cover all the states and territories. Newborns are currently routinely screened, by heelprick bloodspot testing for a number of metabolic and genetic defects. The three major diseases screened for are:
In addition to these disorders the programs screen for galactosaemia and up to 30 other very rare disorders that affect the processing of fatty acids, organic acids and amino acids.
Newborns who have certain symptoms or who are born to mothers who may have been exposed to certain pathogens may have a TORCH screen performed. TORCH is an abbreviation for the infections tested for: Toxoplasmosis, Other (including syphilis, varicella zoster, parvovirus), Rubella, Cytomegalovirus, and Herpes simplex virus. These infections are not serious for the mother but account for 2-3% of congenital disability.