Rare Diseases Genetic Disorders Newborn Screening for Genetic and Metabolic Disorders Congenital Conditions Recommended for Routine Screening By Mary Kugler, RN Mary Kugler, RN Mary Kugler, RN, is a pediatric nurse whose specialty is caring for children with long-term or severe medical problems. Learn about our editorial process Updated on May 04, 2022 Medically reviewed by Jonathan B. Jassey, DO Medically reviewed by Jonathan B. Jassey, DO Facebook Jonathan Jassey, DO, is the founding pediatrician at Concierge Pediatrics in Long Island, New York. Learn about our Medical Expert Board Print Table of Contents View All Table of Contents History Newborn Screening Laws Core and Secondary Screening How Screening Is Done Newborn screening is important for the early detection of inherited genetic and metabolic disorders, allowing doctors to preemptively treat or manage affected babies to reduce illness, disability, or death. The screening is performed soon after birth and involves a simple blood test alongside a non-invasive hearing test. Currently, in the United States, there are 35 genetic and metabolic disorders for which screening is recommended and 26 secondary disorders for which screening may be performed. The list of newborn screening tests can vary by state, with most performing at least 30. Scientifica / Creative RM / Getty Images History The concept of newborn screening began in the 1960s with the development of a genetic screening test for phenylketonuria, a metabolic birth defect. The innovative method and collecting and transporting blood samples on filter paper made wide-scale screening not only viable but cost-effective. Since then, many more blood-based screening tests have been developed, including newer tandem mass spectrometry (MS/MS) technologies that can screen for multiple disorders using only a few drops of dried blood. Unlike traditional blood tests that need to be evaluated individually, MS/MS can detect a broad range of congenital anomalies using a device called a mass spectrometer, which identifies enzymes and proteins based on patterns of refracted light. By comparing the results with a reference range of expected values, lab technicians can confirm with a high level of accuracy whether a genetic or metabolic disorder is present, usually within two or three minutes. In addition to blood-based tests, hearing is routinely screened to detect newborn hearing loss. The hearing tests are non-invasive and only take a few minutes to perform. Today, over 98% of the four million newborns born annually in the United States are tested for more than 30 treatable genetic, metabolic, endocrine, and infectious diseases within the first week of life. Newborn Screening Laws The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) issues regular advisements known as the Recommended Universal Screening Panel (RUSP) which lists the core conditions for which newborn screening is highly recommended and secondary conditions for which screening is optional. While all 50 states and the District of Columbia offer newborn screening, there is no federal law governing such screenings. Because of this, states can opt to change the panel of disorders listed in the RUSP and/or shift the responsibility for testing from the state to the individual doctor or facility. This can lead to a significant lack of equity in some states. As of 2017, 49 states and the District of Columbia screen for 30 or more of the core conditions recommended by the ACHDNC. Other states like California screen for more than the core 34 and, by doing so, significantly reduce their annual healthcare costs. The funding of screening programs continues to challenge many state legislatures. To overcome this, a bill called the Newborn Screening Saves Lives Reauthorization Act was introduced in the U.S. House of Representatives in May 2019 to improve and expand current newborn screening initiatives throughout the United States. Core and Secondary Screening As of July 2018, there are 35 core conditions that the ACHDNC recommends be included in routine screenings and 24 secondary conditions that should be considered based on the availability of effective treatments. Core Conditions Propionic acidemia Methylmalonic acidemia (methylmalonyl-CoA mutase) Methylmalonic acidemia (cobalamin disorders) Isovaleric acidemia 3-methylcrotonyl-CoA carboxylase deficiency 3-hydroxy-3-methylglutaric aciduria Holocarboxylase synthase deficiency Beta-ketothiolase deficiency Glutaric acidemia type I Carnitine uptake/transport defect Medium-chain acyl-CoA dehydrogenase deficiency Very long-chain acyl-CoA dehydrogenase deficiency Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Trifunctional protein deficiency Argininosuccinic aciduria Citrullinemia, type I Maple syrup urine disease Homocystinuria Phenylketonuria Tyrosinemia, type I Primary congenital hypothyroidism Congenital adrenal hyperplasia Sickle cell anemia (SS disease) Sickle beta-thalassemia Sickle cell disease (SC disease) Biotinidase deficiency Critical congenital heart disease Cystic fibrosis Galactosemia Glycogen storage disease type II Congenital hearing loss Severe combined Immunodeficiencies Mucopolysaccharidosis type 1 X-linked adrenoleukodystrophy Spinal muscular atrophy due to homozygous deletion Secondary Conditions Methylmalonic acidemia with homocystinuria Malonic acidemia Isobutyrylglycinuria 2-Methylbutyrylglycinuria 3-Methylglutaconic aciduria 2-Methyl-3-hydroxybutyric aciduria Short-chain acyl-CoA dehydrogenase deficiency Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency Glutaric acidemia type II Medium-chain ketoacyl-CoA thiolase deficiency 2,4 Dienoyl-CoA reductase deficiency Carnitine palmitoyltransferase type I deficiency Carnitine palmitoyltransferase type II deficiency Carnitine acylcarnitine translocase deficiency Argininemia Citrullinemia, type II Hypermethioninemia Benign hyperphenylalaninemia Biopterin defect in cofactor biosynthesis Biopterin defect in cofactor regeneration Tyrosinemia type II Tyrosinemia type III Various other hemoglobinopathies Galactoepimerase deficiency Galactokinase deficiency T-cell related lymphocyte deficiencies How Screening Is Done The process of newborn screening is relatively quick and easy. Between 24 hours to seven days after birth, a few drops of blood are taken from an infant’s heel and placed on a special card. The paper is sent to a specialized laboratory for testing. The results of the blood tests are sent to the infant's pediatrician within two to seven days. If any of the tests come back positive, further testing will be done to confirm the diagnosis. Parents do not have to request the tests; they should be automatically performed. In addition to blood-based tests, a hearing test will be performed to check for hearing loss. It is a non-invasive test that only takes around five to 10 minutes to complete. There are two standard methods of detecting hearing loss in newborns: Otoacoustic Emissions (OAE): A miniature earphone and microphone can confirm hearing if sounds are reflected back from the ear canal.Auditory Brain Stem Response (ABR): Electrodes placed on the newborn's head can detect the presence or absence of brain’s response to sounds. Comparing OAE and ABR Hearing Tests in Children A Word From Verywell With many congenital disorders, the symptoms won't become apparent until days or weeks after the child is born. By identifying these conditions early, treatment can be delivered to prevent harm to the heart, lungs, kidneys, nervous system, or any other affected organ. If you have a family history of a congenital disorder, let your OB/GYN know so that tests may be ordered if they are not already included in the mandated screening. 10 Sources Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy. Health Resources and Services Administration. Recommended uniform screening panel. Last reviewed February 2019. Pitt JJ. Newborn screening. Clin Biochem Rev. 2010;31(2):57-68. Millington DS. The role of technology in newborn screening. N C Med J. 2019;80(1):49-53. doi:10.18043/ncm.80.1.49 Pourfarzam M, Zadhoush F. Newborn screening for inherited metabolic disorders; news and views. J Res Med Sci. 2013 Sep;18(9):801-8. Levit Y, Himmelfarb M, Dollberg S. Sensitivity of the automated auditory brainstem response in neonatal hearing screening. Pediatrics. 2015;136(3):e641-7. doi:10.1542/peds.2014-3784 Kelly N, Makarem DC, Wasserstein MP. Screening of newborns for disorders with high benefit-risk ratios should be mandatory. J Law Med Ethics. 2016;44(2):231-40. doi:10.1177/1073110516654133 Starkweather A, Coleman B, Barcelona de Mendoza V, et al. Policy brief: improve coverage of newborn genetic screening to include the recommended uniform screening panel and newborn screening registry. Nurs Outlook. 2017;65(4):480-4. doi:10.1016/j.outlook.2017.04.009 Baby's First Test. Conditions Screened by State. March of Dimes. March of Dimes welcomes introduction of newborn screening bill. May 2019. Haghshenas M, Zadeh P, Javadian Y, et al. Auditory screening in infants for early detection of permanent hearing loss in northern Iran. Ann Med Health Sci Res. 2014;4(3):340-4. doi:10.4103/2141-9248.133456 By Mary Kugler, RN Mary Kugler, RN, is a pediatric nurse whose specialty is caring for children with long-term or severe medical problems. See Our Editorial Process Meet Our Medical Expert Board Share Feedback Was this page helpful? Thanks for your feedback! What is your feedback? Other Helpful Report an Error Submit