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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
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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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