Newborn Screening Summary Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include Tests on a few drops of blood from pricking the baby’s heel. The tests look for inherited disorders. All states test for at least 30 of these conditions. A hearing test that measures the baby’s response to sound A skin test that measures the level of oxygen in the blood. This can tell if the baby has a congenital heart defect. These tests look for serious medical conditions. If not treated, some of these conditions can cause lifelong health problems. Others can cause early death. With early diagnosis, treatment can begin right away, before serious problems can occur or become permanent. If a screening shows that your baby might have a condition, the health care provider or the state health department will call you. It is important to follow up quickly. Further testing can verify whether your baby has the condition. If so, treatment should start right away. NIH: National Institute of Child Health and Human Development National Institute of Child Health and Human Development Encyclopedia Aminoaciduria Apgar score Glucose-6-phosphate dehydrogenase deficiency Hemoglobin electrophoresis Homocystinuria Methylmalonic acid blood test Neonatal cystic fibrosis screening Plasma amino acids Serum phenylalanine screening TORCH Screen NIH MedlinePlus Magazine Can Baby Hear? Hearing Loss: Screening Newborns Screening Newborns’ Hearing Now Standard Clinical Trials ClinicalTrials.gov: Neonatal Screening National Institutes of Health Genetics Genetics Home Reference: 17β-hydroxysteroid dehydrogenase type 10 deficiency National Library of Medicine Genetics Home Reference: 2-methylbutyryl-CoA dehydrogenase deficiency National Library of Medicine Genetics Home Reference: 21-hydroxylase deficiency National Library of Medicine Genetics Home Reference: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency National Library of Medicine Genetics Home Reference: 3-hydroxyacyl-CoA dehydrogenase deficiency National Library of Medicine Genetics Home Reference: 3-methylcrotonyl-CoA carboxylase deficiency National Library of Medicine Genetics Home Reference: 3-methylglutaconyl-CoA hydratase deficiency National Library of Medicine Genetics Home Reference: adenosine deaminase deficiency National Library of Medicine Genetics Home Reference: alpha thalassemia National Library of Medicine Genetics Home Reference: arginase deficiency National Library of Medicine Genetics Home Reference: argininosuccinic aciduria National Library of Medicine Genetics Home Reference: Barth syndrome National Library of Medicine Genetics Home Reference: beta thalassemia National Library of Medicine Genetics Home Reference: beta-ketothiolase deficiency National Library of Medicine Genetics Home Reference: biotinidase deficiency National Library of Medicine Genetics Home Reference: carbamoyl phosphate synthetase I deficiency National Library of Medicine Genetics Home Reference: carnitine palmitoyltransferase I deficiency National Library of Medicine Genetics Home Reference: carnitine palmitoyltransferase II deficiency National Library of Medicine Genetics Home Reference: carnitine-acylcarnitine translocase deficiency National Library of Medicine Genetics Home Reference: citrullinemia National Library of Medicine Genetics Home Reference: congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency National Library of Medicine Genetics Home Reference: congenital hypothyroidism National Library of Medicine Genetics Home Reference: Costeff syndrome National Library of Medicine Genetics Home Reference: critical congenital heart disease National Library of Medicine Genetics Home Reference: cystic fibrosis National Library of Medicine Genetics Home Reference: deafness and myopia syndrome National Library of Medicine Genetics Home Reference: dilated cardiomyopathy with ataxia syndrome National Library of Medicine Genetics Home Reference: ethylmalonic encephalopathy National Library of Medicine Genetics Home Reference: galactosemia National Library of Medicine Genetics Home Reference: glucose-6-phosphate dehydrogenase deficiency National Library of Medicine Genetics Home Reference: glutamate formiminotransferase deficiency National Library of Medicine Genetics Home Reference: glutaric acidemia type I National Library of Medicine Genetics Home Reference: glutaric acidemia type II National Library of Medicine Genetics Home Reference: glutathione synthetase deficiency National Library of Medicine Genetics Home Reference: glycine encephalopathy National Library of Medicine Genetics Home Reference: histidinemia National Library of Medicine Genetics Home Reference: holocarboxylase synthetase deficiency National Library of Medicine Genetics Home Reference: homocystinuria National Library of Medicine Genetics Home Reference: hyperlysinemia National Library of Medicine Genetics Home Reference: hypermethioninemia National Library of Medicine Genetics Home Reference: hyperprolinemia National Library of Medicine Genetics Home Reference: inherited thyroxine-binding globulin deficiency National Library of Medicine Genetics Home Reference: isobutyryl-CoA dehydrogenase deficiency National Library of Medicine Genetics Home Reference: isovaleric acidemia National Library of Medicine Genetics Home Reference: Krabbe disease National Library of Medicine Genetics Home Reference: long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency National Library of Medicine Genetics Home Reference: malonyl-CoA decarboxylase deficiency National Library of Medicine Genetics Home Reference: maple syrup urine disease National Library of Medicine Genetics Home Reference: medium-chain acyl-CoA dehydrogenase deficiency National Library of Medicine Genetics Home Reference: MEGDEL syndrome National Library of Medicine Genetics Home Reference: methylmalonic acidemia National Library of Medicine Genetics Home Reference: mitochondrial trifunctional protein deficiency National Library of Medicine Genetics Home Reference: nonsyndromic hearing loss National Library of Medicine Genetics Home Reference: ornithine transcarbamylase deficiency National Library of Medicine Genetics Home Reference: ornithine translocase deficiency National Library of Medicine Genetics Home Reference: phenylketonuria National Library of Medicine Genetics Home Reference: primary carnitine deficiency National Library of Medicine Genetics Home Reference: propionic acidemia National Library of Medicine Genetics Home Reference: pyruvate carboxylase deficiency National Library of Medicine Genetics Home Reference: short-chain acyl-CoA dehydrogenase deficiency National Library of Medicine Genetics Home Reference: sickle cell disease National Library of Medicine Genetics Home Reference: succinate-CoA ligase deficiency National Library of Medicine Genetics Home Reference: tetrahydrobiopterin deficiency National Library of Medicine Genetics Home Reference: tyrosinemia National Library of Medicine Genetics Home Reference: very long-chain acyl-CoA dehydrogenase deficiency National Library of Medicine Genetics Home Reference: X-linked severe combined immunodeficiency National Library of Medicine Genetics Home Reference: ZAP70-related severe combined immunodeficiency National Library of Medicine Reference Desk Glossary National Center for Biotechnology Information Related Issues How Are My Newborn’s Screening Results Used? National Institute of Child Health and Human Development Newborn Screening (NBS): Answers to Frequently Asked Questions Save Babies Through Screening Foundation What Is the Apgar Score? Nemours Foundation Start Here How Are Newborn Screening Tests Done? National Institute of Child Health and Human Development Newborn Screening Centers for Disease Control and Prevention Newborn Screening Tests Nemours Foundation What Disorders Are Newborns Screened for in the United States? National Institute of Child Health and Human Development Specifics It Is Important to Have Your Baby’s Hearing Screened National Institute on Deafness and Other Communication Disorders Newborn Screening Tests for your Baby March of Dimes Birth Defects Foundation Purpose of Newborn Hearing Screening American Academy of Pediatrics Screening for Critical Congenital Heart Disease in Newborns American Heart Association Find an Expert March of Dimes Birth Defects Foundation March of Dimes Birth Defects Foundation National Human Genome Research Institute National Human Genome Research Institute National Institute of Child Health and Human Development National Institute of Child Health and Human Development Array Newborn screening tests Journal Articles Newborn Screening
