A New Year’s baby’s newborn screening

Posted by & filed under Newborn screening.

From Bertalan Meskó at Scienceroll

A great improvement in the state of Georgia:

Jaylen Jeremiah Jenkins is a New Year’s baby, and one the first in the state of Georgia to be screened for 28 disorders instead of only 12… And although born a few weeks early, he seems to be a happy and healthy boy. The cost for these new tests is now $40 and is covered by insurance.

The Georgia Newborn Screening Program is now over two decades old. From January 1, 2007, every live born infant must have an adequate blood test for 28 disorders (the most common disorders in the first line, the less-known ones in the other lines):

  • Phenylketonuria, Congenital Hypothyroidism, Maple Syrup Urine Disease, Galactosemia, Tyrosinemia, Homocystinuria, Congenital Adrenal Hyperplasia, Biotinidase Deficiency, Sickle Cell Disorders (SS, SC, S-beta thalassemia), Cystic Fibrosis
  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency, Isovaleric acidemia, Glutaric acidemia type I, 3-OH 3-CH3 glutaric aciduria (HMG), Multiple carboxylase deficiency, Methylmalonic acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC), Propionic acidemia, Beta-ketothiolase deficiency, Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD), Long-chain L-3-OH acyl CoA dehydrogenase deficiency (LCHAD), Trifunctional protein deficiency, Carnitine uptake defect, Citrullinemia, Argininosuccinic acidemia.

Now, we can see how to improve our system. A really great effort from the state of Georgia.






Bertalan Meskó at Scienceroll

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