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neonatal screening
Procedure:
- 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 [1,2]*
* Only Idaho & Wyoming do not have mandatory screening
Related
neonatal (newborn)
newborn screening panel
Specific
amino acidemia newborn screen
beta-galactosidase blood spot
branched chain keto-acid dehydrogenase complex in blood
citrulline/arginine in dried blood spot
citrulline/phenylalanine in dried blood spot
citrulline/tyrosine in dried blood spot
creatine kinase MM in blood; GSP Neonatal Creatine Kinase-MM kit
endocrine disorder newborn screen
fatty acid oxidation defects newborn screen
galactose in blood spot
galactosemia newborn screen
hemoglobin disorders newborn screen
hemolytic disease of the newborn screen
lysosomal storage disorder screeing (Seeker system)
medium/short chain acyl-CoA dehydrogenase deficiency newborn screen
monolysocardiolipin/Cardiolipin in dried blood spot
organic acids newborn screen
phenylalanine in dried blood spot
phenylalanine/tyrosine in blood
screening for cystic fibrosis
screening for galactosemia
screening for phenylketonuria
T-cell receptor excision circle in dried blood spot
thyrotropin (TSH) in blood spot
thyroxine (T4) in dried blood spot
tyrosine in dried blood spot
tyrosine/phenylalanine in blood
General
screening
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
PMID: 22554860
http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(12)60107-X/fulltext
- Centers for Disease Control and Prevention
Protocol. Methods and Screening Algorithm.
Screening for Critical Congenital Heart Defects
http://www.cdc.gov/ncbddd/pediatricgenetics/pulse.html
- Abouk R, Grosse SD, Ailes EC, Oster ME.
Association of US State Implementation of Newborn Screening
Policies for Critical Congenital Heart Disease With Early Infant
Cardiac Deaths.
JAMA. 2017;318(21):2111-2118.
PMID: 29209720
https://jamanetwork.com/journals/jama/article-abstract/2664999
- Kemper AR, Lam WKK, Bocchini JA Jr
The Success of State Newborn Screening Policies for Critical
Congenital Heart Disease.
JAMA. 2017;318(21):2087-2088.
PMID: 29209703
https://jamanetwork.com/journals/jama/article-abstract/2664979
- Kid's Health
http://kidshealth.org/parent/system/medical/newborn_screening_tests.html
Components
17-hydroxyprogesterone in blood
biotinidase in blood