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Published Online: 21 August 2009

Recommended Screening Panel for Newborns

Publication: Psychiatric News
Volume 44, Number 16
https://doi.org/10.1176/pn.44.16.0010a
Below is the “core panel” of 29 heritable conditions for which the American College of Medical Genetics recommends newborn screening. Criteria for inclusion in the panel are the existence of a reliable screen and an efficacious treatment.
 

Organic Acidurias

Isovaleric acidemia
Glutaric acidemia type I
3-OH 3-CH3 glutaric aciduria
Multiple carboxylase deficiency
Methylmalonic acidemia due to mutase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Methylmalonic acidemia cblA and cblB forms
Propionic acidemia
B_-Ketothiolase deficiency
 

Amino Acidurias

Phenylketonuria
Maple syrup (urine) disease
Homocystinuria (due to CBS deficiency)
Citrullinemia
Argininosuccinic acidemia
Tyrosinemia type I
 

Disorders of Fatty Oxidation

Medium-chain acyl-CoA dehydrogenase deficiency
Very long-chain acyl-CoA dehydrogenase deficiency
Long-chain L-3-OH acyl-CoA dehydrogenase deficiency
Trifunctional protein deficiency
Carnitine uptake defect
 

Hemoglobinopathies

Sickle cell anemia or Hb SS disease
Hb S/Beta-thalassemia
Hb S/C disease
 

Other

Congenital hypothyroidism
Biotinidase deficiency
Congenital adrenal hyperplasia (21-hydroxylase deficiency)
Classical galactosemia
Hearing loss
Cystic fibrosis
 
A description of how the college arrived at the panel is found in its 2006 report, “Newborn Screening: Toward a Uniform Screening Panel and System,” posted at<www.acmg.net/resources/policies/NBS/NBS_Exec_Sum.pdf>.▪

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Psychiatric News
Volume 44 • Number 16 • August 21, 2009
Pages: 10

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Published online: 21 August 2009
Published in print: August 21, 2009

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