BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuNewborn screening testsInfant screening tests; Neonatal screening tests; The PKU testNewborn screening tests look for developmental, genetic, and metabolic disorders in the newborn baby. This allows steps to be taken before symptoms develop. Most of these illnesses are very rare, but can be treated if caught early.The types of newborn screening tests that are done vary from state to state. By April 2011, all states reported screening for at least 26 disorders on an expanded and standardized uniform panel. The most thorough screening panel checks for about 40 disorders. However, because phenylketonuria (PKU) was the first disorder for which a screening test developed, some people still call the newborn screen "the PKU test". PhenylketonuriaPhenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine....Read Article Now Book Mark Article In addition to blood tests, screening for hearing loss and critical congenital heart disease (CCHD) is recommended for all newborns. Many states require this screening by law as well. How the Test is Performed Screenings are done using the following methods:Blood tests. A few drops of blood are taken from the baby's heel. The blood is sent to a lab for analysis. Hearing test. A health care provider will place a tiny earpiece or microphone in the infant's ear. Another method uses electrodes that are put on the baby's head while the baby is quiet or asleep. Hearing testHearing loss is not being able to hear sound in one or both ears. Infants may lose all of their hearing or just part of it.Read Article Now Book Mark Article CCHD screen. A provider will place a small soft sensor on the baby's skin and attach it to a machine called an oximeter for a few minutes. The oximeter will measure the baby's oxygen levels in the hand and foot. How to Prepare for the Test There is no preparation needed for newborn screening tests. The tests are most often done before leaving the hospital when the baby is between 24 hours and 7 days old. How the Test will Feel The baby will most likely cry when the heel is pricked to get the blood sample. Studies have shown that babies whose mothers hold them skin-to-skin or breastfeed them during the procedure show less distress. Wrapping the baby tightly in a blanket, or offering a pacifier dipped in sugar water, may also help ease pain and calm the baby.The hearing test and the CCHD screen should not cause the baby to feel pain, cry, or respond. Why the Test is Performed Screening tests do not diagnose illnesses. They show which babies need more testing to confirm or rule out illnesses.If follow-up testing confirms that the child has a disease, treatment can be started, before symptoms appear.Blood screening tests are used to detect a number of disorders. Some of these may include:Amino acid metabolism disorders Biotinidase deficiency Congenital adrenal hyperplasia Congenital adrenal hyperplasiaCongenital adrenal hyperplasia is the name given to a group of inherited disorders of the adrenal gland. Inherited means the traits are passed down ...Read Article Now Book Mark Article Congenital hypothyroidism Cystic fibrosis Cystic fibrosisNeonatal cystic fibrosis screening is a blood test that screens newborns for cystic fibrosis (CF).Read Article Now Book Mark Article Fatty acid metabolism disorders Galactosemia Glucose-6-phosphate dehydrogenase deficiency (G6PD) Glucose-6-phosphate dehydrogenase defic...Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a condition in which red blood cells break down when the body is exposed to certain medicines ...Read Article Now Book Mark Article Human immunodeficiency disease (HIV) Organic acid metabolism disorders Phenylketonuria (PKU) Sickle cell disease and other hemoglobin disorders and traits Toxoplasmosis Normal Results Normal values for each screening test may vary depending on how the test is performed.Note: Normal value ranges may vary slightly among different laboratories. Talk to your provider about the meaning of your specific test results. What Abnormal Results Mean An abnormal result means that the child should have additional testing to confirm or rule out the condition. Risks Risks for the newborn heel prick blood sample include:Pain Possible bruising at the site where the blood was obtained Considerations Newborn testing is critical for the baby to receive treatment. Treatment may be lifesaving. However, not all disorders that can be detected can be treated.Although hospitals do not perform all screening tests, parents can have other tests done at large medical centers. Private labs also offer newborn screening. Parents can find out about extra newborn screening tests from their provider or the hospital where the baby is born. Groups like the March of Dimes -- www.marchofdimes.org also offer screening test resources.Open ReferencesReferencesCenters for Disease Control and Prevention website. About newborn screening. www.cdc.gov/newborn-screening/about/index.html. Updated May 13, 2024. Accessed June 19, 2024.McCandless SE, Kripps KA. Genetics, inborn errors of metabolism, and newborn screening. In: Fanaroff AA, Fanaroff JM, eds. Klaus and Fanaroff's Care of the High-Risk Neonate. 7th ed. St Louis, MO: Elsevier; 2020:chap 6.Sahai I. Newborn screening. In: Gleason CA, Sawyer T, eds. Avery's Diseases of the Newborn. 11th ed. Philadelphia, PA: Elsevier; 2024:chap 18.AllVideoImagesTog Tests for Newborn screening tests Newborn screening testsNeonatal cystic fibrosis screening testSerum phenylalanine screeningRelated Information Neonatal hypothyroidism(Condition)Galactosemia(Condition)Phenylketonuria(Condition)Cystic fibrosis(Condition)Sickle cell disease(Condition)Congenital adrenal hyperplasia(Condition)Glucose-6-phosphate dehydrogenase deficiency(Condition)Apgar score(Medical Test) Review Date: 4/25/2023 Reviewed By: Charles I. Schwartz, MD, FAAP, Clinical Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, General Pediatrician at PennCare for Kids, Phoenixville, PA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. 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Newborn screening testsInfant screening tests; Neonatal screening tests; The PKU testNewborn screening tests look for developmental, genetic, and metabolic disorders in the newborn baby. This allows steps to be taken before symptoms develop. Most of these illnesses are very rare, but can be treated if caught early.The types of newborn screening tests that are done vary from state to state. By April 2011, all states reported screening for at least 26 disorders on an expanded and standardized uniform panel. The most thorough screening panel checks for about 40 disorders. However, because phenylketonuria (PKU) was the first disorder for which a screening test developed, some people still call the newborn screen "the PKU test". PhenylketonuriaPhenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine....Read Article Now Book Mark Article In addition to blood tests, screening for hearing loss and critical congenital heart disease (CCHD) is recommended for all newborns. Many states require this screening by law as well. How the Test is Performed Screenings are done using the following methods:Blood tests. A few drops of blood are taken from the baby's heel. The blood is sent to a lab for analysis. Hearing test. A health care provider will place a tiny earpiece or microphone in the infant's ear. Another method uses electrodes that are put on the baby's head while the baby is quiet or asleep. Hearing testHearing loss is not being able to hear sound in one or both ears. Infants may lose all of their hearing or just part of it.Read Article Now Book Mark Article CCHD screen. A provider will place a small soft sensor on the baby's skin and attach it to a machine called an oximeter for a few minutes. The oximeter will measure the baby's oxygen levels in the hand and foot. How to Prepare for the Test There is no preparation needed for newborn screening tests. The tests are most often done before leaving the hospital when the baby is between 24 hours and 7 days old. How the Test will Feel The baby will most likely cry when the heel is pricked to get the blood sample. Studies have shown that babies whose mothers hold them skin-to-skin or breastfeed them during the procedure show less distress. Wrapping the baby tightly in a blanket, or offering a pacifier dipped in sugar water, may also help ease pain and calm the baby.The hearing test and the CCHD screen should not cause the baby to feel pain, cry, or respond. Why the Test is Performed Screening tests do not diagnose illnesses. They show which babies need more testing to confirm or rule out illnesses.If follow-up testing confirms that the child has a disease, treatment can be started, before symptoms appear.Blood screening tests are used to detect a number of disorders. Some of these may include:Amino acid metabolism disorders Biotinidase deficiency Congenital adrenal hyperplasia Congenital adrenal hyperplasiaCongenital adrenal hyperplasia is the name given to a group of inherited disorders of the adrenal gland. Inherited means the traits are passed down ...Read Article Now Book Mark Article Congenital hypothyroidism Cystic fibrosis Cystic fibrosisNeonatal cystic fibrosis screening is a blood test that screens newborns for cystic fibrosis (CF).Read Article Now Book Mark Article Fatty acid metabolism disorders Galactosemia Glucose-6-phosphate dehydrogenase deficiency (G6PD) Glucose-6-phosphate dehydrogenase defic...Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a condition in which red blood cells break down when the body is exposed to certain medicines ...Read Article Now Book Mark Article Human immunodeficiency disease (HIV) Organic acid metabolism disorders Phenylketonuria (PKU) Sickle cell disease and other hemoglobin disorders and traits Toxoplasmosis Normal Results Normal values for each screening test may vary depending on how the test is performed.Note: Normal value ranges may vary slightly among different laboratories. Talk to your provider about the meaning of your specific test results. What Abnormal Results Mean An abnormal result means that the child should have additional testing to confirm or rule out the condition. Risks Risks for the newborn heel prick blood sample include:Pain Possible bruising at the site where the blood was obtained Considerations Newborn testing is critical for the baby to receive treatment. Treatment may be lifesaving. However, not all disorders that can be detected can be treated.Although hospitals do not perform all screening tests, parents can have other tests done at large medical centers. Private labs also offer newborn screening. Parents can find out about extra newborn screening tests from their provider or the hospital where the baby is born. Groups like the March of Dimes -- www.marchofdimes.org also offer screening test resources.Open ReferencesReferencesCenters for Disease Control and Prevention website. About newborn screening. www.cdc.gov/newborn-screening/about/index.html. Updated May 13, 2024. Accessed June 19, 2024.McCandless SE, Kripps KA. Genetics, inborn errors of metabolism, and newborn screening. In: Fanaroff AA, Fanaroff JM, eds. Klaus and Fanaroff's Care of the High-Risk Neonate. 7th ed. St Louis, MO: Elsevier; 2020:chap 6.Sahai I. Newborn screening. In: Gleason CA, Sawyer T, eds. Avery's Diseases of the Newborn. 11th ed. Philadelphia, PA: Elsevier; 2024:chap 18.