940:. Samples are transported daily to the laboratory responsible for testing. In the United States and Canada, newborn screening is mandatory, with an option for parents to opt out of the screening in writing if they desire. In many regions, NBS is mandatory, with an option for parents to opt out in writing if they choose not to have their infant screened. In most of Europe, newborn screening is done with the consent of the parents. Proponents of mandatory screening claim that the test is for the benefit of the child, and that parents should not be able to opt out on their behalf. In regions that favour informed consent for the procedure, they report no increase in costs, no decrease in the number of children screened and no cases of included diseases in children who did not undergo screening.
1104:, a neurometabolic disease present in approximately 1 out of every 100,000 live births. A short-term California testing pilot project in 2003 and 2004 demonstrated the cost of forgoing rare disease testing on newborns. While both Zachary Wyvill and Zachary Black were both born with the same disease during the pilot program, Wyvill's birth hospital tested only for four state-mandated diseases while Black was born at a hospital participating in the pilot program. Wyvill's disease went undetected for over six months during which irreversible damage occurred but Black's disease was treated with diet and vitamin supplements. Both sets of parents became advocates for expanded neonatal testing and testified in favor of expanding
659:. Samples with an elevated IRT value were then analyzed with molecular methods to identify the presence of disease causing mutations before being reported back to parents and health care providers. CF is included in the core panel of conditions recommended for inclusion in all 50 states, Texas was the last state to implement their screening program for CF in 2010. Alberta was the first Canadian province to implement CF screening in 2007. Quebec, New Brunswick, Nova Scotia, Newfoundland and Prince Edward Island do not include CF in their screening programs. The
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nursery by telephone. They are persistent until they can arrange an evaluation of the infant by an appropriate specialist physician (depending on the disease). The specialist will attempt to confirm the diagnosis by repeating the tests by a different method or laboratory, or by performing other corroboratory or disproving tests. The confirmatory test varies depending on the positive results on the initial screen. Confirmatory testing can include analyte specific assays to confirm any elevations detected, functional studies to determine enzyme activity, and
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center around the advantage of early treatment (when treatment is available), avoiding a diagnostic odyssey for families and providing information for family planning to couples who have an affected child. The arguments against including these disorders, as a group or individually center around the difficulties with reliably identifying individuals who will be affected with a severe form of the disorder, the relatively unproven nature of the treatment methods, and the high cost / high risk associated with some treatment options.
1015:, and Screen4Care, Baby Detect in Belgium and PERIGENOMED in France. In a 2023 survey of 14 European newborn screening programs, there was one pan-European research study with 2 pilot trials planned in Germany (NEW_LIVES) and Italy, the others included three initiatives in Italy, three in the Netherlands, two in Spain, one in Belgium, one in England, one in Germany, one in Greece and one in France. Of the 14 initiatives, 11 selected a single NGS approach for their studies: 6 initiatives planned to use only
109:
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to a poorly selected type of filter paper. This source of variation has been eliminated in most newborn screening programs through standardization of approved sources of filter paper for use in newborn screening programs. In most regions, the newborn screening card (which contains demographic information as well as attached filter paper for blood collection) is supplied by the organization carrying out the testing, to remove variations from this source.
1216:. This is an issue because the newborn period is a crucial time for the parents to bond with the child, and it has been noted that ten percent of parents whose children were diagnosed with a false-positive still worried that their child was fragile and/or sickly even though they were not, potentially preventing the parent-child bond forming as it would have otherwise. As a result, some parents may begin to opt out of having their
398:(MCADD)), while France and Hong Kong only screened for one condition (PKU and congenital hypothyroidism, respectively). The conditions included in newborn screening programs around the world vary greatly, based on the legal requirements for screening programs, prevalence of certain diseases within a population, political pressure, and the availability of resources for both testing and follow-up of identified patients.
561:
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diseases need not be treated until later in life. This raises more issues, such as: if there is no available treatment for the disease should we test for it at all? And if we do, what do we tell the families of those with children bearing one of the untreatable diseases? Studies show that the rarer the disease is and the more diseases being tested for, the more likely the tests are to produce
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baby's newborn screen. Depending on the likelihood of the diagnosis and the risk of delay, the specialist will initiate treatment and provide information to the family. Performance of the program is reviewed regularly and strenuous efforts are made to maintain a system that catches every infant with these diagnoses. Guidelines for newborn screening and follow up have been published by the
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3752:: In this 40-minute talk and slide presentation, offered here in ten short video sections, Dr. Levy covers the history of newborn screening, starting with the origin of the concept of errors of inborn metabolism in the early 1900s, covering Dr. Robert Guthrie's development of newborn screening for PKU, and moving through current screening methods and public health approaches.
898:(ALD), a peroxisomal disease that has a variable clinical presentation is one of the disorders that has become a target for those seeking to identify patients early. ALD can present in several different forms, some of which do not present until adulthood, making it a difficult choice for countries to add to screening programs. The most successful treatment option is a
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for the same number of conditions. This recommendation is not binding for individual states, and some states may screen for disorders that are not included on this list of recommended disorders. Prior to this, babies born in different states had received different levels of screening. On April 24, 2008, President George W. Bush signed into law the
1108:(MS/MS) testing of newborns for rare diseases. By August, 2004, the California state budget law had passed requiring the use of tandem mass spectroscopy to test for more than 30 genetic illnesses and provided funding. California now mandates newborn screening for all infants and tests for 80 congenital and genetic disorders.
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measured in dried blood spots. Because universal newborn screening for DMD has not been undertaken, affected individuals often have a significant delay in diagnosis. As treatment options for DMD become more and more effective, interest in adding a newborn screening test increases. At various times
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Korman SH, Gutman A, Brooks R, Sinnathamby T, Gregersen N, Andresen BS (2004). "Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G>C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with
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results will occur. False positive results could be due to user error, a fussy baby, environmental noise in the testing room, or fluid or congestion in the outer/middle ear of the baby. A review of hearing screening programs found varied initial referral rates (screen positive results) from 0.6% to
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Newborn screening tests have become a subject of political controversy in the last decade. Lawsuits, media attention, and advocacy groups have surfaced a number of different, and possibly countervailing, positions on the use of screening tests. Some have asked for government mandates to widen the
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programs as in any other laboratory, with some notable exceptions. Much of the success of newborn screening programs is dependent on the filter paper used for the collection of the samples. Initial studies using Robert
Guthrie's test for PKU reported high false positive rates that were attributed
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to identify disease-causing mutations. In some cases, a positive newborn screen can also trigger testing on other family members, such as siblings who did not undergo newborn screening for the same condition or the baby's mother, as some maternal conditions can be identified through results on the
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samples collected on specially designed filter paper, originally designed by Robert
Guthrie. The filter paper is often attached to a form containing required information about the infant and parents. This includes date and time of birth, date and time of sample collection, the infant's weight and
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After many years of newborn screening, the incidence of CH worldwide had been estimated at 1:3600 births, with no obvious increases in specific ethnic groups. Recent data from certain regions have shown an increase, with New York reporting an incidence of 1:1700. Reasons for the apparent increase
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The introduction of screening for fatty acid oxidation disorders has been shown to have reduced morbidity and mortality associated with the conditions, particularly MCADD. An
Australian study found a 74% reduction in episodes of severe metabolic decompensation or death among individuals identified
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recommended a uniform panel of diseases that all infants born in every state should be screened for. They also developed an evidence-based review process for the addition of conditions in the future. The implementation of this panel across the United States meant all babies born would be screened
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Dollars spent for these programs may reduce resources available to other potentially lifesaving programs. It was recommended in 2006 that one disorder, Short Chain Acyl-coenzyme A Dehydrogenase
Deficiency, or SCAD, be eliminated from screening programs, due to a "spurious association between
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The goal is to report the results within a short period of time. If screens are normal, a paper report is sent to the submitting hospital and parents rarely hear about it. If an abnormality is detected, employees of the agency, usually nurses, begin to try to reach the physician, hospital, and/or
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deficiency is a disorder that was recently added to newborn screening programs in some regions of the United States. Wisconsin was the first state to add SCID to their mandatory screening panel in 2008, and it was recommended for inclusion in all states' panels in 2010. Since
December 2018 all US
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Lysosomal storage disorders are not included in newborn screening programs with high frequency. As a group, they are heterogenous, with screening only being feasible for a small fraction of the approximately 40 identified disorders. The arguments for their inclusion in newborn screening programs
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and partners suggests that communication between health care providers and parents may be key in minimizing the potential harm when a false positive test occurs. The results from this study also reveal that parents found newborn screening to be a beneficial and necessary tool to prevent treatable
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But for many states, screening has become an integrated part of the department of health which can not or will not be easily replaced. Thus the initial expenditures can be difficult for states with tight budgets to justify. Screening fees have also increased in recent years as health care costs
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As additional tests are discussed for addition to the panels, issues arise. Many question whether the expanded testing still falls under the requirements necessary to justify the additional tests. Many of the new diseases being tested for are rare and have no known treatment, while some of the
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had collected and stored blood and DNA samples on millions of newborns without the parents' knowledge or consent. These samples were then used by the state for genetic experiments and to set up a database to catalog all of the samples/newborns. As of
December 2009, samples obtained without
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Instituting MS/MS screening often requires a sizable up front expenditure. When states choose to run their own programs the initial costs for equipment, training and new staff can be significant. Moreover, MS/MS gives only the screening result and not the confirmatory result. The same has to be
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Newborn screening samples are collected from the infant between 24 hours and 7 days after birth, and it is recommended that the infant has fed at least once. Individual jurisdictions will often have more specific requirements, with some states accepting samples collected at 12 hours, and others
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was required to be paid by the state for the attorney's fees of the 21 families who advanced the lawsuit. An advocacy group that has taken a position against research on newborn blood screening data without parental consent is the
Citizens' Council for Health Freedom, who take the position that
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screening tests may cause harm to infants and their families. Others have learned that government agencies were often secretly storing the results in databases for future genetic research, often without consent of the parents nor limits on how the data could be used in the future . In the UK a
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SCID has not been added to newborn screening in a wide scale for several reasons. It requires technology that is not currently used in most newborn screening labs, as PCR is not used for any other assays included in screening programs. Follow-up and treatment of affected infants also requires
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in a child can have serious effects on many developmental areas, including language, social interactions, emotions, cognitive ability, academic performance and vocational skills, any combination of which can have negative impacts on the quality of life. The serious impacts of a late diagnosis,
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introduced the newborn screening test for PKU in the early 1960s. With the knowledge that PKU could be detected before symptoms were evident, and treatment initiated, screening was quickly adopted around the world. Ireland was the first country in the world to introduce a nationwide screening
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shortly after birth for conditions that are treatable, but not clinically evident in the newborn period. The goal is to identify infants at risk for these conditions early enough to confirm the diagnosis and provide intervention that will alter the clinical course of the disease and prevent or
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Newborn hearing testing is done at the bedside using transiently evoked otoacoustic emissions, automated auditory brainstem responses, or a combination of both techniques. Hearing screening programs have found the initial testing to cost between $ 10.20 and $ 23.37 per baby, depending on the
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Screening programs are often run by state or national governing bodies with the goal of screening all infants born in the jurisdiction for a defined panel of treatable disorders. The number of diseases screened for is set by each jurisdiction, and can vary greatly. Most NBS tests are done by
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measure. Newborn screening programs are administered in each jurisdiction, with additions and removals from the panel typically reviewed by a panel of experts. The four criteria from the publication that were relied upon when making decisions for early newborn screening programs were:
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Gregersen N, Winter V, Jensen PK, Holmskov A, KĂžlvraa S, Andresen BS, Christensen E, Bross P, Lundemose JB, Gregersen M (1995). "Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood".
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was undertaken using anonymised dried blood spots was completed in
Austria in 2010. Their data showed an increased incidence from what was expected in the population, and also a number of late onset forms of disease, which are not typically the target for newborn screening programs.
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patients) have been the driving forces behind screening programs designed to identify infants with hearing loss as early as possible. Early identification allows these patients and their families to access the necessary resources to help them maximize their developmental outcomes.
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program to identify infants with treatable conditions before they present clinically, or suffer irreversible damage. Phenylketonuria (PKU) was the first disorder targeted for newborn screening, being implemented in a small number of hospitals and quickly expanding across the
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are not included in newborn screening panels because they are not reliably detected using current technology, and also because severely affected infants will present with clinical symptoms before newborn screening results are available. Some regions claim to screen for
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which could be easily transported, recognizing the need for a simple system if the screening was going to be done on a large scale. Newborn screening around the world is still done using similar filter paper. NBS was first introduced as a public health program in the
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was one of the first conditions targeted for inclusion. MCADD was the first condition added when the United
Kingdom expanded their screening program from PKU only. Population based studies in Germany, the United States and Australia put the combined incidence of
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significantly expanded the list of disorders detectable by newborn screening. Quebec has run a voluntary second-tier screening program since 1971 using urine samples collected at three weeks of age to screen for an expanded list of organic acidemias using a
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parents' consent between 2002 and 2009 were slated to be destroyed following the settlement of "a lawsuit filed by parents against the Texas
Department of Health Services and Texas A&M; for secretly storing and doing research on newborn blood samples."
308:. This act was enacted to increase awareness among parents, health professionals, and the public on testing newborns to identify certain disorders. It also sought to improve, expand, and enhance current newborn screening programs at the state level.
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Kasper DC, Ratschmann R, Metz TF, Mechtler TP, Möslinger D, Konstantopoulou V, Item CB, Pollak A, Herkner KR (2010). "The National Austrian Newborn Screening Program â Eight years experience with mass spectrometry. Past, present, and future goals".
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by newborn screening as having MCADD versus those who presented clinically prior to screening. Studies in the Netherlands and United Kingdom found improvements in outcome at a reduced cost when infants were identified before presenting clinically.
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technologies many samples are being kept for DNA identification and research, increasing the possibility that more children will be opted out of newborn screening from parents who see the kept samples as a form of research done on their child.
1198:. Over 1 million newborn bloodspot samples were destroyed in 2011 "when the state's Supreme Court found that storage and use of blood spots beyond newborn screening panels was in violation of the state's genetic privacy laws.". Nearly
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and comes in two forms â simple virilizing and a salt-wasting form. The incidence of CAH can vary greatly between populations. The highest reported incidence rates are among the Yupic Eskimos of Alaska (1:280) and on the French island of
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Schulze A, Lindner M, KohlmĂŒller D, Olgemöller K, Mayatepek E, Hoffmann GF (June 2003). "Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications".
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further done by higher technologies or procedure like GC/MS, Enzyme Assays or DNA Tests. This in effect adds more cost burden and makes physicians lose precious time. To avoid at least a portion of the up front costs, some states such as
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method is utilized as a screening method for quantifying 17α-OHP in dried blood spots, it exhibits a significant rate of false positive results. As per the clinical practice guideline issued by the Endocrine Society in 2018, employing
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newborn health screening for "a specific set of newborn genetic conditions" is a very different matter than storing the data or those DNA samples indefinitely to "use them for genetic research without parental knowledge or consent."
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states perform SCID screening. As the first country in Europe, Norway started nationwide SCID screening January 2018. Identification of infants with SCID is done by detecting T-cell receptor excision circles (TRECs) using real-time
584:, which can detect many different types of abnormal hemoglobins. In the United States, newborn screening for sickle cell disease was recommended for all infants in 1987, however it was not implemented in all 50 states until 2006.
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Mechtler TP, Stary S, Metz TF, De JesĂșs VC, Greber-Platzer S, Pollak A, Herkner KR, Streubel B, Kasper DC (2012). "Neonatal screening for lysosomal storage disorders: Feasibility and incidence from a nationwide study in Austria".
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Newborn screening has expanded since the introduction of PKU testing in the 1960s, but can vary greatly between countries. In 2011, the United States screened for 54 conditions, Germany for 12, the United Kingdom for 2 (PKU and
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Sokoro AA, Lepage J, Antonishyn N, McDonald R, Rockman-Greenberg C, Irvine J, Lehotay DC (2010). "Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan".
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recommending to wait until 48 hours of life or later. Each laboratory will have its own criteria on when a sample is acceptable, or if another would need to be collected. Samples can be collected at the hospital, or by
292:. In many regions, Guthrie's BIA has been replaced by MS/MS profiles, however the filter paper he developed is still used worldwide, and has allowed for the screening of millions of infants around the world each year.
1011:(NGS) have been announced worldwide including the Genomic Uniform-screening Against Rare Diseases in All Newborns (GUARDIAN study), BeginNGS and Early Check in the USA, BabyScreen+ in Australia, Generation Study by
471:, to the extent that SCADD was removed from screening panels in a number of regions. Without the cohort of patients identified by newborn screening, this clinical phenotype would likely not have been identified.
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180:(PKU) could be treated by dietary adjustment, and that early intervention was required for the best outcome. Infants with PKU appear normal at birth, but are unable to metabolize the essential amino acid
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screened. Many parents are also concerned about what happens with their infant's blood samples after screening. The samples were originally taken to test for preventable diseases, but with the advance in
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disorders at 1:9300 among Caucasians. The United States screens for all known fatty acid oxidation disorders, either as primary or secondary targets, while other countries screen for a subset of these.
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is a disease that has been added to screening programs in several jurisdictions around the world, despite the lack of evidence as to whether early detection improves the clinical outcome for a patient.
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has been recently added as a bedside screening test for CCHD at 24 to 48 hours after birth. However, not all heart problems can be detected by this method, which relies only on blood oxygen levels.
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developed a simple method using a bacterial inhibition assay that could detect high levels of phenylalanine in blood shortly after a baby was born. Guthrie also pioneered the collection of blood on
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Thangaratinam S, Brown K, Zamora J, Khan KS, Ewer AK (2012). "Pulse oximetry screening for critical congenital heart defects in asymptomatic newborn babies: A systematic review and meta-analysis".
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extent of the screening to find detectable and treatable birth defects. Others have opposed mandatory screening concerned that effective follow-up and treatment may not be available, or that
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Papacharalampous GX, Nikolopoulos TP, Davilis DI, Xenellis IE, Korres SG (2011). "Universal newborn hearing screening, a revolutionary diagnosis of deafness: Real benefits and limitations".
2202:"Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland"
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1023:(WES) to facilitate filtering variants, 3 initiatives use classical NGS gene panels, 2 initiatives will be using WES and 2 initiatives will use a mixed approach: one comparing WES and
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924:). Most newborn screening cards also include contact information for the infant's physician in cases where follow up screening or treatment is needed. The Canadian province of
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criteria based largely on criteria established by JMG Wilson and F. Jungner in 1968. Although not specifically about newborn population screening programs, their publication,
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are included in some NBS programs. Infants who screen positive undergo further testing to determine if they are truly affected with a disease or if the test result was a
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are included in newborn screening programs in many jurisdictions that using tandem mass spectrometry to identify key amino acids. Proximal urea cycle defects, such as
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results), Guthrie and others looked for other disorders that could be identified and treated in infants, eventually developing bacterial inhibition assays to identify
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Expanded newborn screening is also opposed by among some health care providers, who are concerned that effective follow-up and treatment may not be available, that
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Controversy has also erupted in some countries over collection and storage of blood or DNA samples by government agencies during the routine newborn blood screen.
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With the advent of tandem mass spectrometry as a screening tool, several fatty acid oxidation disorders were targeted for inclusion in newborn screening programs.
364:
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has greatly expanded the potential number of diseases that can be detected, even without satisfying all of the other criteria used for making screening decisions.
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Homepage of the Save Babies Through Screening Foundation, a grass-roots advocacy group devoted solely to expanding, and promoting awareness of, Newborn Screening.
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gestational age. The form will also have information about whether the baby has had a blood transfusion and any additional nutrition the baby may have received (
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CH was added to many newborn screening programs in the 1970s, often as the second condition included after PKU. The most common cause of CH is dysgenesis of the
576:. Worldwide, it is estimated that 7% of the population may carry a hemoglobinopathy with clinical significance. The most well known condition in this group is
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and the rest of the world. After the success of newborn screening for PKU (39 infants were identified and treated in the first two years of screening, with no
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from a single dried blood spot. This increased the number of conditions that could be detected by newborn screening. Enzyme assays are used to screen for
894:
As treatments improve, newborn screening becomes a possibility for disorders that could benefit from early intervention, but none was previously available.
491:(CAH). Testing for both disorders can be done using blood samples collected on the standard newborn screening card. Screening for CH is done by measuring
1995:
Lindner M, Hoffmann GF, Matern D (2010). "Newborn screening for disorders of fatty-acid oxidation: Experience and recommendations from an expert meeting".
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Newborn screening programs have also expanded the information base available about some rare conditions. Prior to its inclusion in newborn screening,
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Because newborn screening programs test for a number of conditions, a number of laboratorial methodologies are used, as well as bedside testing for
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screening program where parents collect a sample at 21 days of age and submit it to a provincial laboratory for an additional panel of conditions.
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levels in the newborn screening dried blood spot, but other sources have shown that affected individuals do not have elevated ornithine at birth.
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countries screen for CF as well. Switzerland is one of the latest countries to add CF to their newborn screening menu, doing so in January 2011.
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Lindner M, Gramer G, Haege G, Fang-Hoffmann J, Schwab KO, Tacke U, Trefz FK, Mengel E, Wendel U, Leichsenring M, Burgard P, Hoffmann GF (2011).
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Early identification of individuals with sickle cell disease and other hemoglobinopathies allows treatment to be initiated in a timely fashion.
443:
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3193:"Improving and Assuring Newborn Screening Laboratory Quality Worldwide: 30-Year Experience at the Centers for Disease Control and Prevention"
960:. In teh early 1960s Newborn screening started out using simple bacterial inhibition assays to screen for a single disorder, starting with
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Many rare diseases have not historically been tested for or testing that has been available has not been mandatory. One such disease is
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was the second disease widely added in the 1970s. Guthrie and colleagues also developed bacterial inhibition assays for the detection of
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Ross LF (2006). "Screening for conditions that do not meet the Wilson and Jungner criteria: The case of Duchenne muscular dystrophy".
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16.7%. The highest overall incidence of hearing loss detection was 0.517%. A significant proportion of screen positive infants were
1142:'. Advocates are quick to point out studies such as these when trying to convince state legislatures to mandate expanded screening.
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467:(SCADD) was thought to be life-threatening. Most patients identified via newborn screening as having this enzyme deficiency were
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since 1978, DMD has been included (often as a pilot study on a small subset of the population) in newborn screening programs in
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Nicholls SG (2011). "Proceduralisation, choice and parental reflections on decisions to accept newborn bloodspot screening".
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SobczyĆska-Tomaszewska A, OĆtarzewski M, Czerska K, Wertheim-Tysarowska K, Sands D, Walkowiak JA, Bal J, Mazurczak T (2012).
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and androstenedione) is recommended as a supplementary screening approach to enhance the accuracy of positive predictions.
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Lilley M, Christian S, Hume S, Scott P, Montgomery M, Semple L, Zuberbuhler P, Tabak J, Bamforth F, Somerville MJ (2010).
1634:"Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *"
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has been used in children with sickle cell disease, and blood transfusions are used for patients identified with severe
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having an acceptable treatment protocol in place that changes the outcome for patients diagnosed early with the disease
2662:"All 50 States Now Screening Newborns for Severe Combined Immunodeficiency (SCID) | Immune Deficiency Foundation"
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performs newborn screening on whole blood samples collected as in most other jurisdictions, and also runs a voluntary
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728:, whose son, Hunter, was affected with the disease. A pilot screening program for four lysosomal storage diseases (
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established a check-list to assist health care providers communicate with parents about a screen-positive result.
854:. Many jurisdictions around the world have screened for, or attempted to screen for DMD using elevated levels of
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Raymond GV, Jones RO, Moser AB (2007). "Newborn screening for adrenoleukodystrophy: Implications for therapy".
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have joined together to raise awareness surrounding this issue and promote the positives of early diagnosis.
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SCAD and symptoms. However, other studies suggested that perhaps expanded screening is cost effective (see
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became more widely available, the technology allowed rapid determination of a number of acylcarnitines and
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580:. Newborn screening for a large number of hemoglobinopathies is done by detecting abnormal patterns using
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a screening test that is reliable for both affected and unaffected patients and is acceptable to the public
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2706:"Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels"
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method. Newborn screening using tandem mass spectrometry can detect several organic acidemias, including
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Classic CAH, the disorder targeted by newborn screening programs, is caused by a deficiency of the enzyme
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Benson JM, Therrell BL (2010). "History and Current Status of Newborn Screening for Hemoglobinopathies".
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Mu D, Sun D, Qian X, Ma X, Qiu L, Cheng X, Yu S (December 2023). "Steroid profiling in adrenal disease".
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As diagnostic techniques have progressed, debates have arisen as to how screening programs should adapt.
2390:"Cystic Fibrosis Canada Calls for CF Newborn Screening in Every ProvinceâEarly CF Detection Saves Lives"
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Barben J, Gallati S, Fingerhut R, Schoeni MH, Baumgartner MR, Torresani T, Swiss Cf Screening G (2012).
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Klein AH, Agustin AV, Foley TP (1974). "Successful laboratory screening for congenital hypothyroidism".
891:. In 2012, Belgium was the only country that continued to screen for DMD using creatine kinase levels.
799:, is undergone to determine the cause of low oxygen levels. Babies diagnosed with CCHD are then seen by
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3653:"State Newborn Screening in the Tandem Mass Spectrometry Era: More Tests, More False-Positive Results"
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3125:"Newborn Screening Expands: Recommendations for Pediatricians and Medical Homes-Implications for the"
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ameliorate the clinical manifestations. NBS started with the discovery that the amino acid disorder
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1362:"Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns"
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964:. With this testing methodology, newborn screening required one test to detect one condition. As
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2243:"Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy"
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combined with the high incidence (estimated at 1 - 3 per 1000 live births, and as high as 4% for
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have chosen to contract with private labs for expanded screening. Others have chosen to form
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in the late 1960s using a bacterial inhibition assay (BIA) to measure phenylalanine levels in
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655:
gene was identified, Australia introduced a two tier testing program to reduce the number of
1814:"The Manchester regional screening programme: A 10-year exercise in patient and family care"
564:
Sickle cells in human blood: both normal red blood cells and sickle-shaped cells are present
3870:
2240:
899:
895:
832:
741:
581:
452:
317:
273:
168:
56:
704:(hyperammonemia, hyperornithinemia, homocitrullinuria) based on the detection of elevated
8:
3839:
3644:
3474:"The impact of false-positive newborn screening results on families: a qualitative study"
2968:
1087:
625:
577:
419:
programme in February 1966, Austria started screening the same year and England in 1968.
280:(MS/MS) screening in the early 1990s led to a large expansion of potentially detectable
3683:
3598:
3573:
3043:"Next-generation sequencing-based newborn screening initiatives in Europe: an overview"
2950:
2845:
2781:
2730:
2705:
2643:
2597:
2543:
2440:
2363:
2338:
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2107:
2020:
1972:
1892:
1838:
1813:
1794:
1717:
1660:
1633:
1550:
1507:
1450:
Wilson JM, Jungner YG (1968). "Principles and practice of mass screening for disease".
1222:
1195:
617:
573:
3514:"Checklist for communicating with parents about an out-of-range newborn screen result"
2631:
2531:
1313:
1278:
503:(17α-OHP) is the primary marker used when screening for CAH, most commonly done using
3768:
3675:
3631:
3603:
3495:
3429:
3376:
3340:
3212:
3146:
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2589:
2535:
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2432:
2368:
2311:
2272:
2223:
2151:
2111:
2099:
2064:
2012:
1964:
1928:
1884:
1879:
1863:"Post-mortem analysis for two prevalent ÎČ-oxidation mutations in sudden infant death"
1862:
1843:
1786:
1750:
1740:
1709:
1665:
1609:
1542:
1499:
1459:
1432:
1424:
1383:
1340:
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965:
773:
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2849:
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2647:
2601:
2547:
2393:
2323:
1976:
1896:
1798:
1721:
1554:
1525:
Pollitt RJ (2009). "Newborn blood spot screening: New opportunities, old problems".
1511:
788:(CCHD) are not identified by prenatal ultrasound or postnatal physical examination.
3667:
3593:
3585:
3485:
3421:
3410:"Cost-benefit analysis of universal tandem mass spectrometry for newborn screening"
3368:
3332:
3204:
3136:
3054:
2934:
2897:
2829:
2765:
2756:
Chase NM, Verbsky JW, Routes JM (2010). "Newborn screening for T-cell deficiency".
2725:
2717:
2627:
2581:
2527:
2474:
2424:
2358:
2350:
2303:
2262:
2254:
2213:
2143:
2091:
2056:
2024:
2004:
1956:
1920:
1874:
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1825:
1778:
1699:
1655:
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1584:
1534:
1491:
1414:
1373:
1309:
1274:
1244:
1172:
1159:
1155:
1012:
981:
796:
604:
529:
515:
results. Careful analysis of screening results for CAH may also identify cases of
480:
3208:
2938:
2444:
2147:
136:
3749:
3718:
2769:
2479:
2462:
2307:
1911:
phenotypic diversity ranging from sudden neonatal death to asymptomatic status".
1704:
1687:
1419:
1402:
1378:
1361:
1058:
1037:
997:
961:
855:
729:
656:
636:
407:
324:
proposed ten criteria that screening programs should meet before being used as a
253:
177:
122:
1924:
260:
samples obtained by pricking a newborn baby's heel on the second day of life on
3471:
1213:
1187:
1164:
1151:
1077:
957:
789:
768:
721:
664:
660:
512:
410:(PKU), which can be easily treated by dietary modifications, but causes severe
379:
226:
222:
3574:"The Ethical Hazards and Programmatic Challenges of Genomic Newborn Screening"
3451:
2585:
2428:
2218:
2201:
2095:
2060:
2008:
1782:
1538:
776:
before a diagnosis could be confirmed or ruled out in all screening programs.
3859:
3123:
American Academy of Pediatrics Newborn Screening Authoring Committee (2008).
1589:
1572:
1428:
1019:(WGS) as a first-tier test for NBS, including one also testing parents using
888:
828:
737:
733:
680:
536:
375:
370:
325:
296:
198:
181:
164:
3789:(Educational site produced by the non-profit organization Genetic Alliance.)
3372:
1754:
3834:
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3607:
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3344:
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3059:
2946:
2911:
2841:
2777:
2739:
2639:
2593:
2571:
2539:
2504:"Jim Kelly and Hunter's Hope families push for universal newborn screening"
2488:
2436:
2372:
2354:
2339:"Newborn screening for cystic fibrosis in Alberta: Two years of experience"
2315:
2276:
2227:
2155:
2103:
2068:
2047:
Pass KA, Neto EC (2009). "Update: Newborn Screening for Endocrinopathies".
2016:
1932:
1888:
1829:
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1713:
1669:
1650:
1546:
1503:
1436:
1387:
1286:
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754:
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468:
261:
234:
214:
193:
2258:
1968:
1960:
1463:
1452:
Boletin de la Oficina Sanitaria Panamericana. Pan American Sanitary Bureau
1321:
1131:(See Report of Summation of Fees Charged for Newborn Screening, 2001â2005)
108:
3589:
3472:
Schmidt, J.L., Castellanos-Brown, K., Childress, S., et al. (2012).
1847:
1495:
1265:
Clague A, Thomas A (2002). "Neonatal biochemical screening for disease".
916:
688:
640:
592:
520:
496:
427:
230:
210:
130:
3778:
Waldholz, Michael, "A Drop of Blood Saves One Baby; Another Falls Ill,"
3630:. Contemporary Issues in Bioethics: Thomas Wadsworth. pp. 248â251.
3323:
Waisbren SE (August 2006). "Newborn screening for metabolic disorders".
1403:"Filter Paper as a Blood Sample Collection Device for Newborn Screening"
146:
3490:
3473:
2833:
1737:
Robert Guthrie--the PKU story : crusade against mental retardation
969:
851:
676:
588:
569:
285:
831:, which may not be available in all regions. Treatment for SCID is a
549:
252:
is given much of the credit for pioneering the earliest screening for
2721:
1235:
860:
725:
705:
644:
289:
3792:
3192:
2902:
2885:
201:
in the early 1960s, and has expanded to countries around the world.
2800:"Newborn screening for DMD shows promise as an international model"
2291:
1027:(WGS) and one comparing WES, WGS, and classical NGS. gene panels.
847:
795:
When a baby tests positive, urgent subsequent examination, such as
540:
in incidence have been studied, but no explanation has been found.
525:
492:
67:
external links, and converting useful links where appropriate into
3786:
3711:
3283:
Lynch A. "State to expand testing of newborns for genetic ills".
3259:"Testing Fate: A Drop of Blood Saves One Baby; Another Falls Ill"
3099:
2691:"Norske barn blir de fĂžrste i Europa som screenes for immunsvikt"
1217:
937:
884:
864:
3743:
The History of Newborn Screening - Flash Cast by Harvey Levy, MD
1811:
519:, which presents with extremely low levels of 17α-OHP. When the
401:
1631:
1129:
rise and as more states add MS/MS screening to their programs.
925:
880:
872:
868:
815:
560:
528:
to measure 17α-OHP and other adrenal steroid hormones (such as
206:
172:
3407:
2413:
3073:
3017:
2199:
1945:
1909:
929:
876:
504:
257:
3712:
U.S. National Newborn Screening and Genetics Resource Center
3621:
3619:
3617:
2617:
1767:
823:(qPCR). TRECs are decreased in infants affected with SCID.
1095:
2993:
1573:"Robert Guthrie, MD, PhD: Clinical Chemistry/Microbiology"
1299:
603:
Most jurisdictions did not start screening for any of the
406:
Newborn screening originated with an amino acid disorder,
3755:
3614:
2516:
1812:
Komrower GM, Sardharwalla IB, Fowler B, Bridge C (1979).
1359:
568:
Any condition that results in the production of abnormal
3845:
List of disorders included in newborn screening programs
2336:
365:
List of disorders included in newborn screening programs
2049:
Endocrinology & Metabolism Clinics of North America
1685:
1240:
Pages displaying short descriptions of redirect targets
446:(MCADD), which had been implicated in several cases of
339:
an understanding about who will be treated as a patient
996:. Molecular techniques are used for the diagnosis of
639:(CF) was first added to newborn screening programs in
3408:
Schoen EJ, Baker JC, Colby CJ, To TT (October 2002).
3190:
3040:
2289:
1994:
1739:. Pasadena, Calif.: Hope Pub. House. pp. 65â66.
1247: â Testing for diseases or conditions in a fetus
767:
technology used. As these are screening tests only,
284:
that can be identified by characteristic patterns of
229:. Follow-up testing is typically coordinated between
213:
samples collected on filter paper. Bedside tests for
2392:. Cystic Fibrosis Canada. 2012-07-26. Archived from
915:
Newborn screening tests are most commonly done from
2042:
2040:
2038:
2036:
2034:
1477:
1475:
1473:
1111:
806:
720:New York State started a pilot study to screen for
499:(TSH) or a combination of both analytes. Elevated
336:
an understanding of the condition's natural history
3527:
2758:Current Opinion in Allergy and Clinical Immunology
2755:
2463:"Newborn Screening of Lysosomal Storage Disorders"
3186:
3184:
2819:
437:
51:may not follow Knowledge's policies or guidelines
3857:
3191:De JesĂșs VC, Mei JV, Bell CJ, Hannon WH (2010).
2613:
2611:
2567:
2565:
2563:
2561:
2559:
2557:
2031:
1805:
1761:
1470:
1264:
1238: â American molecular biologist (1925â2008)
322:Principles and practice of screening for disease
217:using automated auditory brainstem response and
3567:
3565:
3563:
3561:
3238:. The portal for rare diseases and orphan drugs
3076:"NEW_LIVES: Genomic Newborn Screening Programs"
1627:
1625:
902:, a procedure that carries a significant risk.
3448:"Financial, Ethical, Legal, and Social Issues"
3181:
3041:Bros-Facer V, Taylor S, Patch C (2023-10-07).
3018:"Baby Detect â Improve the newborn screening!"
2918:
2167:
2165:
2133:
1860:
1597:
1570:
1394:
1154:screening tests may cause harm, and issues of
1085:17 small rare disease organisations including
711:
444:Medium chain acyl-CoA dehydrogenase deficiency
396:medium chain acyl-CoA dehydrogenase deficiency
3808:
3756:Newborn Screening Information & Resources
3157:
2877:
2751:
2749:
2608:
2554:
2129:
2127:
2125:
2123:
2121:
1686:Mitchell JJ, Trakadis YJ, Scriver CR (2011).
1449:
1145:
465:short-chain acyl-CoA dehydrogenase deficiency
424:congenital disorders of amino acid metabolism
402:Congenital Disorders of Amino Acid Metabolism
3558:
3533:
3465:
3393:: CS1 maint: multiple names: authors list (
2813:
2802:. Nationwide Children's Hospital. 2012-03-19
2456:
2454:
2075:
1990:
1988:
1986:
1681:
1679:
1622:
1566:
1564:
1518:
1443:
479:The most commonly included disorders of the
426:tested for on the newborn screening include
3322:
2856:
2460:
2384:
2382:
2290:Wagener JS, Zemanick ET, Sontag MK (2012).
2162:
2081:
1734:
1484:American Journal of Medical Genetics Part A
1400:
1353:
1258:
1194:A similar legal case was filed against the
1186:In the United States, it was revealed that
850:disorder caused by defective production of
779:
3815:
3801:
3725:"National Newborn Screening Status Report"
3571:
2883:
2746:
2574:European Archives of Oto-Rhino-Laryngology
2510:
2283:
2195:
2193:
2118:
1328:
1293:
1178:
1057:Newborn screening programs participate in
316:Newborn screening programs initially used
107:
3597:
3489:
3140:
3058:
2901:
2729:
2478:
2451:
2362:
2330:
2266:
2217:
1983:
1939:
1903:
1878:
1837:
1703:
1676:
1659:
1649:
1588:
1561:
1418:
1377:
1339:. Hope Publishing House. pp. 47â48.
1052:
697:carbamoyl phosphate synthetase deficiency
507:, with many programs using a second tier
311:
306:Newborn Screening Saves Lives Act of 2007
87:Learn how and when to remove this message
3256:
2924:
2506:. WBFO 88.7, Buffalo's NPR News Station.
2495:
2379:
2234:
2046:
1854:
1096:Increasing mandatory tests in California
572:is included under the broad category of
559:
27:Practice of testing infants for diseases
3625:
3232:"Glutaryl-CoA dehydrogenase deficiency"
2792:
2292:"Newborn screening for cystic fibrosis"
2190:
1524:
1007:As of 2023, numerous initiatives using
835:, which cannot be done in all centers.
724:in 2006, largely due to the efforts of
670:
651:(IRT) in dried blood spots. After the
14:
3858:
3650:
3303:California Department of Public Health
3074:UniversitÀtsklinikum Heidelberg (nd).
2886:"Newborn screening: A spot of trouble"
2501:
2417:Journal of Inherited Metabolic Disease
2175:. Government of Quebec. Archived from
1997:Journal of Inherited Metabolic Disease
1688:"Phenylalanine hydroxylase deficiency"
1527:Journal of Inherited Metabolic Disease
1360:Chace DH, Kalas TA, Naylor EW (2003).
1065:
3822:
3796:
3536:"Newborn DNA samples to be destroyed"
3047:Rare Disease and Orphan Drugs Journal
3036:
3034:
2407:
952:using evoked auditory potentials and
943:
693:ornithine transcarbamylase deficiency
555:
414:if not identified and treated early.
358:
3764:Ethics and Newborn Genetic Screening
3761:Baily, M.A. and Murray, T.H. (2009).
3229:
3169:American College of Medical Genetics
2703:
1861:Yang ZI, Lantz PE, Ibdah JA (2007).
1608:. Hope Publishing House. p. x.
1603:
1481:
1334:
1047:American College of Medical Genetics
1030:
910:
598:
301:American College of Medical Genetics
31:
838:
474:
369:Newborn screening is intended as a
24:
3767:. Johns Hopkins University Press.
3031:
2247:European Journal of Human Genetics
1125:sharing both costs and resources.
631:
505:enzyme-linked immunosorbant assays
25:
3897:
3705:
3534:Nanci Wilson (23 December 2009).
3299:"Newborn Screening Program (NBS)"
3282:
2822:Molecular Diagnosis & Therapy
1913:Molecular Genetics and Metabolism
1638:Orphanet Journal of Rare Diseases
1169:University of Maryland, Baltimore
1880:10.1111/j.1442-200X.2007.02478.x
1112:Government budgetary limitations
1083:Newborn Screening Collaborative,
1002:severe combined immunodeficiency
812:Severe combined immunodeficiency
807:Severe combined immunodeficiency
36:
3782:, 17 June 2001, p. A1 (52k PDF)
3506:
3440:
3401:
3351:
3316:
3291:
3276:
3250:
3223:
3116:
3092:
3067:
3010:
2986:
2961:
2697:
2683:
2654:
1728:
748:
3080:www.klinikum.uni-heidelberg.de
2343:Paediatrics & Child Health
1771:Wiener Klinische Wochenschrift
1571:Gonzalez J, Willis MS (2009).
1070:
1043:American Academy of Pediatrics
994:congenital adrenal hyperplasia
489:congenital adrenal hyperplasia
438:Fatty acid oxidation disorders
13:
1:
3209:10.1053/j.semperi.2009.12.003
2939:10.1136/medethics-2011-100040
2632:10.1016/S0140-6736(12)60107-X
2532:10.1016/S0140-6736(11)61266-X
2296:Current Opinion in Pediatrics
2148:10.1053/j.semperi.2009.12.006
1606:Robert Guthrie: The PKU Story
1337:Robert Guthrie: The PKU Story
1314:10.1016/S0140-6736(74)91637-7
1279:10.1016/S0009-8981(01)00716-1
1251:
905:
517:congenital adrenal hypoplasia
511:test to reduce the number of
282:congenital metabolic diseases
2770:10.1097/ACI.0b013e32833fd6fe
2480:10.1373/clinchem.2009.141622
2308:10.1097/MOP.0b013e328353489a
1705:10.1097/GIM.0b013e3182141b48
1420:10.1373/clinchem.2015.252007
1401:Chace DH, Hannon WH (2016).
1379:10.1373/clinchem.2003.022178
1206:
1167:issue, researchers from the
760:neonatal intensive care unit
448:sudden infant death syndrome
184:, resulting in irreversible
7:
3876:Inborn errors of metabolism
3257:Waldholz M (17 June 2004).
2969:"Newborn Genomes Programme"
1925:10.1016/j.ymgme.2004.03.002
1229:
844:Duchenne muscular dystrophy
712:Lysosomal storage disorders
352:Duchenne muscular dystrophy
10:
3902:
3739:List of tests by US state.
2461:Marsden D, Levy H (2010).
2206:Journal of Cystic Fibrosis
1146:Decreasing mandatory tests
1138:and articles published in
1009:next generation sequencing
922:total parenteral nutrition
649:immunoreactive trypsinogen
432:Maple Syrup Urine Disorder
362:
244:
3830:
3628:Newborn Genetic Screening
3287:. No. 4 August 2004.
2927:Journal of Medical Ethics
2864:"Newborn blood screening"
2586:10.1007/s00405-011-1672-1
2429:10.1007/s10545-010-9148-9
2219:10.1016/j.jcf.2012.01.001
2173:"Newborn urine screening"
2096:10.1016/j.cca.2023.117749
2061:10.1016/j.ecl.2009.08.005
2009:10.1007/s10545-010-9076-8
1783:10.1007/s00508-010-1457-3
1539:10.1007/s10545-009-9962-0
1163:diseases. To address the
986:congenital hypothyroidism
821:polymerase chain reaction
685:argininosuccinic aciduria
614:thin layer chromatography
485:congenital hypothyroidism
388:maple syrup urine disease
270:maple syrup urine disease
266:Congenital hypothyroidism
205:measuring metabolites or
143:
129:
115:
106:
101:
18:Newborn screening program
3197:Seminars in Perinatology
2136:Seminars in Perinatology
1867:Pediatrics International
1590:10.1309/LMD48N6BNZSXIPVH
1106:tandem mass spectrometry
1102:glutaric acidemia type I
980:. Immunoassays measure
954:congenital heart defects
786:congenital heart defects
784:In some cases, critical
780:Congenital heart defects
675:Disorders of the distal
609:tandem mass spectrometry
509:tandem mass spectrometry
348:Tandem mass spectrometry
278:tandem mass spectrometry
219:congenital heart defects
3373:10.1542/peds.111.6.1399
2502:Osorio S (2011-07-28).
1818:British Medical Journal
1179:Secret genetic research
1025:Whole genome sequencing
1017:whole genome sequencing
990:17α-hydroxyprogesterone
501:17α-hydroxyprogesterone
412:Intellectual disability
186:intellectual disability
3672:10.1542/peds.2005-2026
3426:10.1542/peds.110.4.781
3337:10.1001/jama.296.8.993
3142:10.1542/peds.2007-3021
3060:10.20517/rdodj.2023.26
2866:. Government of Quebec
2710:Hastings Center Report
1830:10.1136/bmj.2.6191.635
1651:10.1186/1750-1172-6-44
1136:ACMG report page 94-95
1053:Laboratory performance
1021:whole exome sequencing
978:biotinidase deficiency
647:in 1981, by measuring
622:methylmalonic acidemia
565:
545:steroid 21-hydroxylase
312:Inclusion of disorders
276:. The development of
239:primary care physician
3572:Goldenberg A (2012).
3285:San Jose Mercury News
3165:"ACMG NBS ACT Sheets"
2884:Carmichael M (2011).
2259:10.1038/ejhg.2012.180
1961:10.1002/pd.1970150118
1123:Regional Partnerships
992:for the diagnosis of
984:for the diagnosis of
563:
3590:10.1001/jama.2012.68
3478:Genetics in Medicine
3100:"ÎÏÏÎčÎșÎź First steps"
2355:10.1093/pch/15.9.590
1735:Koch, Jean. (1997).
1692:Genetics in Medicine
1496:10.1002/ajmg.a.31165
1158:. A recent study by
1081:campaign called the
900:stem cell transplant
896:Adrenoleukodystrophy
833:stem cell transplant
742:Niemann-Pick disease
671:Urea cycle disorders
582:isoelectric focusing
453:fatty acid oxidation
384:classic galactosemia
274:classic galactosemia
57:improve this article
3840:Neonatal heel prick
3780:Wall Street Journal
3626:Clayton EW (2003).
3546:on 24 December 2009
3516:. Baby's First Test
3263:Wall Street Journal
2626:(9835): 2459â2464.
1577:Laboratory Medicine
1088:Genetic Alliance UK
1066:Society and culture
626:isovaleric acidemia
578:sickle cell disease
69:footnote references
3748:2010-03-01 at the
3717:2004-07-01 at the
3491:10.1038/gim.2011.5
2834:10.1007/BF03256261
2716:(Suppl 2): S7âS9.
2693:. 13 October 2017.
2467:Clinical Chemistry
1949:Prenatal Diagnosis
1777:(21â22): 607â613.
1407:Clinical Chemistry
1223:genomic sequencing
1196:State of Minnesota
944:Laboratory testing
618:propionic acidemia
574:hemoglobinopathies
566:
556:Hemoglobinopathies
359:Targeted disorders
3866:Newborn screening
3853:
3852:
3824:Newborn screening
3787:Baby's First Test
3773:978-0-8018-9151-9
3651:Tarini B (2006).
3637:978-0-495-00673-2
2896:(7355): 156â158.
2666:primaryimmune.org
2580:(10): 1399â1406.
2526:(9813): 335â341.
1824:(6191): 635â638.
1615:978-0-932727-91-6
1346:978-0-932727-91-6
1031:Reporting results
966:mass spectrometry
911:Sample collection
814:(SCID) caused by
774:lost to follow-up
605:organic acidemias
599:Organic acidemias
233:and the infant's
188:. In the 1960s,
157:Newborn screening
154:
153:
102:Newborn screening
97:
96:
89:
16:(Redirected from
3893:
3817:
3810:
3803:
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3729:
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3542:. Archived from
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3504:
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2704:Puck JM (2018).
2701:
2695:
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2677:
2668:. Archived from
2658:
2652:
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1372:(11): 1797â817.
1357:
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1332:
1326:
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1297:
1291:
1290:
1267:Clin. Chim. Acta
1262:
1245:Prenatal testing
1241:
1201:
1173:Genetic Alliance
1160:Genetic Alliance
1156:informed consent
1013:Genomics England
982:thyroid hormones
839:Other conditions
797:echocardiography
663:as well as many
530:21-deoxycortisol
481:endocrine system
475:Endocrinopathies
147:edit on Wikidata
139:
125:
111:
99:
98:
92:
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3734:
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3719:Wayback Machine
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3402:
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3367:(6): 1399â406.
3356:
3352:
3321:
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3173:
3171:
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3000:
2992:
2991:
2987:
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2967:
2966:
2962:
2923:
2919:
2903:10.1038/475156a
2882:
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2803:
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1630:
1623:
1616:
1604:Koch J (1997).
1602:
1598:
1583:(12): 748â749.
1569:
1562:
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1519:
1480:
1471:
1448:
1444:
1399:
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1347:
1335:Koch J (1997).
1333:
1329:
1298:
1294:
1273:(1â2): 99â110.
1263:
1259:
1254:
1239:
1232:
1214:false-positives
1209:
1199:
1181:
1148:
1114:
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1073:
1068:
1059:quality control
1055:
1038:genetic testing
1033:
998:cystic fibrosis
962:phenylketonuria
946:
913:
908:
856:creatine kinase
841:
809:
782:
751:
730:Gaucher disease
714:
673:
657:false positives
643:and regions of
637:Cystic fibrosis
634:
632:Cystic fibrosis
601:
558:
477:
440:
408:phenylketonuria
404:
367:
361:
314:
254:phenylketonuria
247:
178:phenylketonuria
150:
135:
121:
93:
82:
76:
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54:
45:This article's
41:
37:
28:
23:
22:
15:
12:
11:
5:
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3889:
3888:
3883:
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3820:
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3812:
3805:
3797:
3791:
3790:
3784:
3775:
3759:
3753:
3740:
3737:on 2018-03-28.
3721:
3707:
3706:External links
3704:
3701:
3700:
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3350:
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3290:
3275:
3249:
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3203:(2): 125â133.
3180:
3156:
3135:(1): 192â217.
3115:
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2998:screen4care.eu
2985:
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2917:
2876:
2855:
2828:(6): 381â384.
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2745:
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2282:
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2189:
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2084:Clin Chim Acta
2074:
2055:(4): 827â837.
2030:
2003:(5): 521â526.
1982:
1938:
1919:(2): 121â129.
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1675:
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1308:(7872): 77â9.
1292:
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1253:
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1177:
1165:false positive
1152:false positive
1147:
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1094:
1078:false positive
1072:
1069:
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909:
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790:Pulse oximetry
781:
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769:false positive
750:
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722:Krabbe disease
713:
710:
672:
669:
665:European Union
661:United Kingdom
633:
630:
600:
597:
557:
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513:false positive
476:
473:
439:
436:
416:Robert Guthrie
403:
400:
380:false negative
360:
357:
344:
343:
340:
337:
334:
313:
310:
290:acylcarnitines
250:Robert Guthrie
246:
243:
227:false positive
223:pulse oximetry
190:Robert Guthrie
152:
151:
144:
141:
140:
133:
127:
126:
119:
113:
112:
104:
103:
95:
94:
49:external links
44:
42:
35:
26:
9:
6:
4:
3:
2:
3898:
3887:
3886:Rare diseases
3884:
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3454:on 2006-01-27
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2179:on 2012-01-14
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2010:
2006:
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1991:
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1978:
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1966:
1962:
1958:
1954:
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1930:
1926:
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1918:
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199:United States
195:
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182:phenylalanine
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165:public health
162:
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