Neonatal Screening
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Contents |
More Specific Terms
- 17-hydroxyprogesterone in blood
- amino acidemia newborn screen
- biotinidase in blood
- branched chain keto-acid dehydrogenase complex in blood
- endocrine disorder newborn screen
- fatty acid oxidation defects newborn screen
- galactosemia newborn screen
- hemoglobin disorders newborn screen
- homocystine in blood
- medium/short chain acyl-CoA dehydrogenase deficiency newborn screen
- organic acids newborn screen
- phenylalanine in blood
- phenylalanine in serum/plasma
- phenylalanine/tyrosine in blood
- proline in serum/plasma
- serine in serum/plasma
- taurine in serum/plasma
- threonine in serum/plasma
- thyrotropin (TSH) in blood
- thyroxine (T4) in blood
- tyrosine in blood
- valine in serum/plasma
Introduction
- Standard protocol to screen for:
- congenital hypothyroidism
- phenylketonuria ( PKU)
Other screening may include screening for: - galactosemia
- sickle cell disease
- biotinidase deficiency
- congenital adrenal hyperplasia
- maple syrup urine disease
- homocystinuria
- tyrosinemia
- cystic fibrosis
- toxoplasmosis
- hearing impairment
- pulse oximetry for congenital heart defects
More General Terms
Additional Terms
References
- Thangaratinam S et al Pulse oximetry screening for critical congenital heart defects in asymptomatic newborn babies: a systematic review and meta-analysis The Lancet, Early Online Publication, 2 May 2012 <PubMed> PMID: [1] <Internet> [2]
- Kid's Health [3]
- National Guideline Clearinghouse Screening for phenylketonuria (PKU): U.S. Preventive Services Task Force reaffirmation recommendation statement. ngc-guideline: [4]
- Update of newborn screening and therapy for congenital hypothyroidism. (American Academy of Pediatrics) ngc-guideline: [5]
- Screening for congenital hypothyroidism: U.S. Preventive Services Task Force reaffirmation recommendation statement. ngc-guideline: [6]
- Screening for fetal chromosomal abnormalities. American College of Obstetricians and Gynecologists ngc-guideline: [7]
- Screening for sickle cell disease in newborns: U.S. Preventive Services Task Force recommendation statement. ngc-guideline: [8]
- Screening of infants for hyperbilirubinemia to prevent chronic bilirubin encephalopathy: US Preventive Services Task Force recommendation statement. ngc-guideline: [9]
- Follow-up testing for metabolic diseases identified by expanded newborn screening using tandem mass spectrometry. National Academy of Clinical Biochemistry ngc-guideline: [10]
