Within 3-7 days after birth, a few drops of blood are taken from the baby's heel and tested for genetic and metabolic disorders. The goal is to catch treatable conditions before they cause permanent damage.
The 15 diseases screened in Shanghai include amino acid disorders (PKU, maple syrup urine disease, homocystinuria, citrullinemia, tyrosinemia), fatty acid oxidation disorders (MCAD, VLCAD, carnitine deficiency, multiple acyl-CoA dehydrogenase deficiency, LCHAD), organic acid disorders (methylmalonic acidemia, propionic acidemia, isovaleric acidemia), biotinidase deficiency, and congenital hypothyroidism.
The screening is quick, painless, and potentially life-saving. Most babies screen negative. If positive, follow-up testing is needed. Early detection gives you the chance to start treatment before symptoms appear. Don't skip it.