Newborn screening is a preventive measure in the field of population medicine. It is used for the early detection and quality-assured treatment of all newborns with certain treatable endocrine, metabolic and immunological diseases. Genetic diagnostics can help to confirm the diagnosis from the screening examination. Since the affected enzyme/protein is already known from the screening result, the relevant genes are specifically investigated.
Disorders tested in newborn screening
| Disorder | Gene | Inheritance pattern |
| Adrenogenital syndrome (AGS) | CYP21A2 | AR |
| Biotinidase deficiency | BTD | AR |
| Carnitine acylcarnitine translocase (CACT) deficiency | SLC25A20 | AR |
| Carnitine palmitoyltransferase 1A (CPT1A) deficiency | CPT1A | AR |
| Carnitine palmitoyltransferase 2 (CPT2) deficiency | CPT2 | AR |
| Cystic fibrosis (CF) | CFTR | AR |
| Galactosemia | GALT | AR |
| Glutaric aciduria type 1 (GA1) | GCDH | AR |
| Hypothyroidism, congenital | DUOX2, PAX8, TSHR | AD, AR |
| Isovaleric acidemia | IVD | AR |
| Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency | HADHA, HADHB | AR |
| Maple syrup disease type Ia | BCKDHA | AR |
| Maple syrup disease type Ib | BCKDHB | AR |
| Maple syrup disease type II | DBT | AR |
| Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency | ACADM | AR |
| Phenylketonuria / Hyperphenylalaninemia (PKU / HPA) | PAH | AR |
| Severe combined immunodeficiency (SCID) | various genes | AR, XLR |
| Tyrosinemia type 1 | FAH | AR |
| Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency | ACADVL | AR |
AD, autosomal dominant; AR, autosomal recessive; XLR, X-linked recessive
References
Nennstiel et al., AWMF Leitlinie 024/012 – Neugeborenen-Screening auf angeborene Stoffwechselstörungen und Endokrinopathien und Mucoviszidose, 2019 / Richtlinie des gemeinsamen Bundesausschusses über die Früherkennung bei Kindern bis zur Vollendung des 6. Lebensjahres ("Kinder-Richtline"), 2018