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Yes, it is available in Worcester. A few drops of your baby's blood can be collected onto a blood card in the first few days of life (best on the day of discharge) to screen for a number of metabolic and other inherited diseases (see below for the complete list). As a screening test, the aim is to identify newborns that require further, definitive testing. The benefits include early diagnosis and potential treatment of these relatively rare (1 in 4000 babies affected), but potentially serious and lifelong, conditions. They can be quite difficult to diagnose (if one waits for symptoms and signs to appear) and by the time they are, some of the complications may be irreversible. It is strongly recommended to have the screening test done if there is a family background of one of these conditions. Why isn't everyone having the test for their baby? It is relatively expensive (currently up to allmost R1600) and your medical aid probably won't cover the cost.
Conditions screened for with the newborn screening test : Amino acid disorders : Citrullinemia type 1, classic phenylketonuria, homocystinuria, maple syrup urine disease, tyrosinemia type 1. Organic acid disorders : 3-hydroxy-3-methylglutaric aciduria, 3-methylcrotonyl-CoA carboxylase deficiency, glutaric acidemia type 1, holocarboxylase synthase deficiency, isovaleric acidemia, methylmalonic acidemia (cobalamin disorders), methylmalonic acidemia (methylmalonyl-CoA mutase), propionic acidemia, beta-ketothiolase deficiency. Disorders of fatty acid oxidation : carnitine uptake defect/ carnitine transport defect, medium-chain acyl-CoA dehydrogenase deficiency, very long-chain acyl-CoA dehydrogenase deficiency. Disorders of carbohydrate metabolism : classic galactosemia. Endocrine disorders : congenital adrenal hyperplasia, primary congenital hypothyroidism. Other disorders : biotinidase deficiency, cystic fibrosis. More information : Newborn screening in South Africa Newborn screening in the USA Comments are closed.
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