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Sample records for newborn screening linkage

  1. Newborn Screening

    MedlinePlus

    ... Activities Importance of Newborn Screening Newborn Screening and Molecular Biology Branch Pulse Oximetry Screening for CCHDs Sickle Cell Disease Laboratory SCID Quality Assurance Training and Resources ...

  2. Newborn screening tests

    MedlinePlus

    Newborn 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 ...

  3. Newborn screening: current status.

    PubMed

    Arn, Pamela H

    2007-01-01

    Newborn screening, which represents one of the major advances in child health of the past century, has been carried out in all fifty U.S. states since the 1970s. Newborn screening programs are state-run, and decisions are left to the individual states regarding the conditions to be screened for, the mechanism for confirmatory testing, follow-up care, and financing of the programs. Laboratory advances in tandem mass spectrometry make it possible to screen newborns for many rare inborn errors of metabolism. This raises many policy issues including screening's cost-effectiveness, ethics, quality, and oversight.

  4. Newborn Screening Tests Approved

    MedlinePlus

    ... The screens are used to detect four rare metabolic disorders To use the sharing features on this page, ... of screening tests designed to detect four rare metabolic disorders in newborns has been approved by the U.S. ...

  5. Newborn Screening Tests

    MedlinePlus

    ... difference between lifelong impairment and healthy development. Which Tests Are Offered? Newborn screening varies by state and is subject to change, especially given advancements in technology. However, the disorders listed here are those usually ...

  6. What's New with Newborn Screening

    ERIC Educational Resources Information Center

    Exceptional Parent, 2008

    2008-01-01

    Newborn screening is the process of testing and screening newborns shortly after birth for certain, potentially dangerous, conditions and/or impairments--conditions that include everything from inborn errors of metabolism and other genetic disorders to hearing impairment. Early detection through newborn screening is paramount, often allowing the…

  7. Newborn screening in India.

    PubMed

    Rama Devi, A Radha; Naushad, S M

    2004-02-01

    Expanded newborn screening (NBS) is aimed for early detection and intervention of treatable inborn errors of metabolism and also to establish incidence of these disorders in this part of the globe. The first expanded NBS programme initiated in the capital city of Andhra Pradesh to screen all the newborns born in four major Government Maternity Hospitals in Hyderabad by heel prick capillary blood collected on S&S 903 filter paper. Chromatographic (TLC and HPLC), electrophoretic (cellulose acetate and agarose) and ELISA based assays have been employed for screening of common inborn errors of metabolism. This study has shown a high prevalence of treatable Inborn errors of metabolism. Congenital hypothyroidsm is the most common disorder (1 in 1700) followed by congenital Adrenal Hyperplasia (1 in 2575) and Hyperhomocystenemia (1 in 100). Interestingly, a very high prevalence of inborn errors of metabolism to the extent of 1 in every thousand newborns was observed. The study reveals the importance of screening in India, necessitating nation wide large-scale screening.

  8. Newborn Screening: MedlinePlus Health Topic

    MedlinePlus

    ... away. NIH: National Institute of Child Health and Human Development Start Here How Are Newborn Screening Tests Done? (National Institute of Child Health and Human Development) Also in Spanish Newborn Screening (Centers for Disease ...

  9. Newborn Screening for Biliary Atresia.

    PubMed

    Wang, Kasper S

    2015-12-01

    Biliary atresia is the most common cause of pediatric end-stage liver disease and the leading indication for pediatric liver transplantation. Affected infants exhibit evidence of biliary obstruction within the first few weeks after birth. Early diagnosis and successful surgical drainage of bile are associated with greater survival with the child's native liver. Unfortunately, because noncholestatic jaundice is extremely common in early infancy, it is difficult to identify the rare infant with cholestatic jaundice who has biliary atresia. Hence, the need for timely diagnosis of this disease warrants a discussion of the feasibility of screening for biliary atresia to improve outcomes. Herein, newborn screening for biliary atresia in the United States is assessed by using criteria established by the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children. Published analyses indicate that newborn screening for biliary atresia by using serum bilirubin concentrations or stool color cards is potentially life-saving and cost-effective. Further studies are necessary to evaluate the feasibility, effectiveness, and costs of potential screening strategies for early identification of biliary atresia in the United States.

  10. Newborn Screening: Characteristics of State Programs.

    ERIC Educational Resources Information Center

    Toiv, Helene F.; Austin, Janina; Gardiner, Emily Gamble; Tynan, Ann; Hill, Ariel; Milne, Kevin; Moon, Cindy; Lawes, Susan

    Each year, state newborn screening programs test 4 million newborns for disorders that require early detection and treatment to prevent serious illness or death. The U.S. General Accounting Office (GAO) was asked to provide Congress with information on variations among state newborn screening programs. Based on surveys of such programs in all 50…

  11. Newborn Screening for Fragile X Syndrome

    ERIC Educational Resources Information Center

    Bailey, Donald B., Jr.

    2004-01-01

    Newborn screening for fragile X syndrome (FXS) is technically possible, and in the relatively near future accurate and inexpensive screening technologies are likely to be available. When that happens, will America's public health system adopt newborn screening for fragile X syndrome? This article addresses this issue by first placing screening for…

  12. National Newborn Screening and Genetics Resource Center

    MedlinePlus

    ... GENERAL INFORMATION Conditions Screened by US Programs General Resources Genetics Birth Defects Hearing Screening FOR PROFESSIONALS ACT Sheets(ACMG) General Resources Newborn Screening Genetics Birth Defects FOR FAMILIES FAQs ...

  13. Data integration and warehousing: coordination between newborn screening and related public health programs.

    PubMed

    Therrell, Bradford L

    2003-01-01

    At birth, patient demographic and health information begin to accumulate in varied databases. There are often multiple sources of the same or similar data. New public health programs are often created without considering data linkages. Recently, newborn hearing screening (NHS) programs and immunization programs have virtually ignored the existence of newborn dried blood spot (DBS) newborn screening databases containing similar demographic data, creating data duplication in their 'new' systems. Some progressive public health departments are developing data warehouses of basic, recurrent patient information, and linking these databases to other health program databases where programs and services can benefit from such linkages. Demographic data warehousing saves time (and money) by eliminating duplicative data entry and reducing the chances of data errors. While newborn screening data are usually the first data available, they should not be the only data source considered for early data linkage or for populating a data warehouse. Birth certificate information should also be considered along with other data sources for infants that may not have received newborn screening or who may have been born outside of the jurisdiction and not have birth certificate information locally available. This newborn screening serial number provides a convenient identification number for use in the DBS program and for linking with other systems. As a minimum, data linkages should exist between newborn dried blood spot screening, newborn hearing screening, immunizations, birth certificates and birth defect registries.

  14. How Are Newborn Screening Tests Done?

    MedlinePlus

    ... researchers Health Education Programs Safe to Sleep, Media-Smart Youth, Maternal/Child Health Education Program NICHD Publications ... First, hospital staff fill out a newborn screening card with the infant’s vital information—name, sex, weight, ...

  15. How Are My Newborn's Screening Results Used?

    MedlinePlus

    ... newborn screening device Selected NICHD Research Advances of 2016 All related news Home Contact Accessibility Web Policies and Notices FOIA Facebook Twitter Pinterest YouTube RSS NIH...Turning Discovery Into Health ® Printed from the NICHD Web Site

  16. The Clinical Aspects of Newborn Screening: Importance of Newborn Screening Follow-Up

    ERIC Educational Resources Information Center

    James, Philip M.; Levy, Harvey L.

    2006-01-01

    The aim of newborn screening is to identify presymptomatic healthy infants that will develop significant metabolic or endocrine derangements if left undiagnosed and untreated. The goal of ultimately reducing or eliminating irreversible sequelae is reached by maximizing test sensitivity of the primary newborn screening that measures specific…

  17. [Hearing screening of newborns. Preliminary results].

    PubMed

    Courtmans, I; Mancilla, V; Ligny, C; Belhadi, B; Damis, E; Mahillon, P

    2005-02-01

    Since 1976, an hearing screening is organized at the Clinic Edith Cavell. The testing was based on a behavioral technique of Veit-Bizaguet and, since 2001, the otoacoustic emissions are realised. The National Institutes of Health (1993) recommends universal newborn hearing screening of all newborns before 3 months of age and identification and treatment before 6 months of age. Indeed, detection of hearing loss and early intervention allow a better access to the language and consequently an easier schooling and social integration. This article shows the results of the screening from february at the end of December 2002. These data are compared with those of the literature.

  18. Primary care role in expanded newborn screening

    PubMed Central

    Hayeems, Robin Z.; Miller, Fiona A.; Carroll, June C.; Little, Julian; Allanson, Judith; Bytautas, Jessica P.; Chakraborty, Pranesh; Wilson, Brenda J.

    2013-01-01

    Abstract Objective To examine the role of primary care providers in informing and supporting families who receive positive screening results. Design Cross-sectional survey. Setting Ontario. Participants Family physicians, pediatricians, and midwives involved in newborn care. Main outcome measures Beliefs, practices, and barriers related to providing information to families who receive positive screening results for their newborns. Results A total of 819 providers participated (adjusted response rate of 60.9%). Of the respondents, 67.4% to 81.0% agreed that it was their responsibility to provide care to families of newborns who received positive screening results, and 64.2% to 84.8% agreed they should provide brochures or engage in general discussions about the identified conditions. Of the pediatricians, 67.3% endorsed having detailed discussions with families, but only 24.1% of family physicians and 27.6% of midwives endorsed this practice. All provider groups reported less involvement in information provision than they believed they should have. This discrepancy was most evident for family physicians: most stated that they should provide brochures (64.2%) or engage in general discussions (73.5%), but only a minority did so (15.3% and 27.7%, respectively). Family physicians reported insufficient time (42.2%), compensation (52.2%), and training (72.3%) to play this role, and only a minority agreed they were up to date (18.5%) or confident (16.5%) regarding newborn screening. Conclusion Providers of primary newborn care see an information-provision role for themselves in caring for families who receive positive newborn screening results. Efforts to further define the scope of this role combined with efforts to mitigate existing barriers are warranted. PMID:23946032

  19. Newborn screening for non-sickling hemoglobinopathies.

    PubMed

    Hoppe, Carolyn C

    2009-01-01

    The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin and beta-globin genes. Non-sickling disorders are found primarily in individuals of Mediterranean, Asian and Southeast Asian ancestry. With rapid growth in the Asian and Hispanic segments of the US population, the geographic distribution of hemoglobinopathies is expected to become significantly different from what it is today. The epidemiologic changes in the prevalence of non-sickling hemoglobin disorders have important implications for future public health programs, including newborn screening. The purpose of newborn screening for hemoglobinopathies is to identify clinically significant disorders and provide early education and specialized care prior to the onset of clinical symptoms. Although newborn screening for sickle cell disease is mandated in all states, screening for non-sickling hemoglobinopathies is directed in only one state and limited to reporting of a presumptive diagnosis in most other states. Early delivery of comprehensive care, as well as new and potentially curative therapies, has significantly improved the prognosis for affected patients. This review will consider the increasing prevalence of once uncommon hemoglobinopathies in the US, highlighting the rationale for expanding newborn screening beyond sickle cell disorders.

  20. Purpose of Newborn Hearing Screening

    MedlinePlus

    ... be used. What if my baby does not pass the hearing screening? If your baby does not pass the hearing screening at birth, it does not ... loss. In fact, most babies who do not pass the screening test have normal hearing. But to ...

  1. Screening Newborns | NIH MedlinePlus the Magazine

    MedlinePlus

    ... began in 1999, when President Clinton signed the Newborn and Infant Hearing Screening and Intervention Act, authorizing the coordination and funding of statewide newborn and infant hearing screening programs. In December 2010, President Obama ...

  2. Prenatal and newborn screening for hemoglobinopathies.

    PubMed

    Hoppe, C C

    2013-06-01

    The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin and beta-globin genes. Increased immigration of high-risk populations has prompted the implementation of prenatal and newborn screening programs for hemoglobinopathies across Europe and North America. In Canada, the UK, and other European countries, prenatal screening to identify hemoglobinopathy carriers and offer prenatal diagnostic testing to couples at risk is linked to newborn screening, while in the United States, it is still not universally performed. The structure of screening programs, whether prenatal or postnatal, universal or selective, varies greatly among these countries and within the United States. The laboratory methods used to identify hemoglobinopathies are based on the prevalence of hemoglobinopathies within the population and the type of screening performed. Advances in molecular testing have facilitated the diagnosis of complex thalassemias and sickling disorders observed in ethnically diverse populations. This review summarizes the current approaches and methods used for carrier detection, prenatal diagnosis, and newborn screening.

  3. National Evaluation of US Newborn Screening System Components

    ERIC Educational Resources Information Center

    Therrell, Bradford L.; Hannon, W. Harry

    2006-01-01

    Newborn screening has existed as a state-based public health service since the early 1960s. Every state and most territorial jurisdictions have comprehensive newborn screening programs in place, but in the United States a national newborn screening policy does not exist. This results in different administrative infrastructures, screening…

  4. Newborn Screening for Lysosomal Storage Disorders and Other Neuronopathic Conditions

    ERIC Educational Resources Information Center

    Matern, Dietrich; Oglesbee, Devin; Tortorelli, Silvia

    2013-01-01

    Newborn screening (NBS) is a public health program aimed at identifying treatable conditions in presymptomatic newborns to avoid premature mortality, morbidity, and disabilities. Currently, every newborn in the Unites States is screened for at least 29 conditions where evidence suggests that early detection is possible and beneficial. With new or…

  5. Different Viewpoints: International Perspectives on Newborn Screening

    PubMed Central

    Pollitt, Rodney J

    2015-01-01

    Summary Newborn blood-spot screening to detect potentially treatable disorders is widely practiced across the globe. However, there are great variations in practice, both in terms of disorders covered, screening technologies, disease definition, information provision, parental informed consent, and storage and disposal of residual specimens, partly reflecting the degree to which screening is the subject of explicit legislation (and thus public and media pressure) or is embedded in a general health care system and managed at an executive level. It is generally accepted that disorders to be screened for should comply with the ten Wilson and Jungner criteria, but the way that compliance is assessed ranges from broadly-based opinion surveys to detailed analysis of quantitative data. Consequently, even countries with comparable levels of economic development and health care show large differences in the number of disorders screened for. There are several areas on which there are no generally accepted guidelines: how should parents be informed about screening and to what extent should they be encouraged to regard screening as an option to choose to refuse? Is DNA mutation analysis acceptable as part of a screening protocol? How soon should the blood samples be destroyed once screening has been completed? As technology advances and the potential scope of screening expands at both the metabolite and genome level, challenging policy issues will have to be faced. PMID:28356819

  6. Newborn Screening To Prevent Mental Retardation. The Arc Q & A.

    ERIC Educational Resources Information Center

    Arc, Arlington, TX.

    This information fact sheet on screening newborns to prevent mental retardation defines newborn screening and outlines how screening is performed. It discusses the six most common disorders resulting in mental retardation for which states most commonly screen. These include phenylketonuria, congenital hypothyroidism, galactosemia, maple syrup…

  7. Emergency preparedness for newborn screening and genetic services.

    PubMed

    Pass, Kenneth A; Thoene, Jess; Watson, Michael S

    2009-06-01

    Patients identified in newborn screening programs can be among the most vulnerable during a disaster due to their need to have prompt diagnosis and medical management. Recent disasters have challenged the ability of newborn screening programs to maintain the needed continuity during emergency situations. This has significant implications for the newborn screening laboratories, the diagnostic confirmation providers, and the patients who either require diagnosis or maintenance of their therapeutic interventions. In 2007, the National Coordinating Center (NCC) for the Regional Genetics and Newborn Screening Collaboratives (RCs) sponsored a meeting involving representatives of the Regional Genetics and Newborn Screening Collaborative Groups, state newborn screening programs, providers of diagnosis and confirmation services, manufacturers of equipment, medical foods, and other treatments used in patients identified in newborn screening programs, and individuals from agencies involved in disaster response including the National Disaster Medical Service, the Centers for Disease Control and Prevention, the Emergency Management Assistance Compact, the Federal Emergency Management Agency, and others. In addition to developing contingency plans for newborn screening, we have considered other uses of genetics as it is used in DNA-based kinship identification of mass casualties. The meeting resulted in the description of a wide range of issues facing newborn screening programs, provider groups, and patients for which emergency preparedness development is needed in order that appropriate response is enabled.

  8. Newborn Screening for Lysosomal Storage Diseases

    PubMed Central

    Gelb, Michael H.; Scott, C. Ronald; Turecek, Frantisek

    2015-01-01

    BACKGROUND There is worldwide interest in newborn screening for lysosomal storage diseases because of the development of treatment options that give better results when carried out early in life. Screens with high differentiation between affected and nonaffected individuals are critical because of the large number of potential false positives. CONTENT This review summarizes 3 screening methods: (a) direct assay of enzymatic activities using tandem mass spectrometry or fluorometry, (b) immunocapture-based measurement of lysosomal enzyme abundance, and (c) measurement of biomarkers. Assay performance is compared on the basis of small-scale studies as well as on large-scale pilot studies of mass spectrometric and fluorometric screens. SUMMARY Tandem mass spectrometry and fluorometry techniques for direct assay of lysosomal enzymatic activity in dried blood spots have emerged as the most studied approaches. Comparative mass spectrometry vs fluorometry studies show that the former better differentiates between nonaffected vs affected individuals. This in turn leads to a manageable number of screen positives that can be further evaluated with second-tier methods. PMID:25477536

  9. Newborn Screening for Krabbe’s Disease

    PubMed Central

    Orsini, Joseph J.; Saavedra-Matiz, Carlos A.; Gelb, Michael H.; Caggana, Michele

    2017-01-01

    Live newborn screening for Krabbe’s disease (KD) was initiated in New York on August 7, 2006, and started in Missouri in August, 2012. As of August 7, 2015, nearly 2.5 million infants had been screened, and 443 (0.018%) infants had been referred for followup clinical evaluation; only five infants had been determined to have KD. As of August, 2015, the combined incidence of infantile KD in New York and Missouri is ~1 per 500,000; however, patients who develop later-onset forms of KD may still emerge. This Review provides an overview of the processes used to develop the screening and followup algorithms. It also includes updated results from screening and discussion of observations, lessons learned, and suggested areas for improvement that will reduce referral rates and the number of infants defined as at risk for later-onset forms of KD. Although current treatment options for infants with early-infantile Krabbe’s disease are not curative, over time treatment options should improve; in the meantime, it is essential to evaluate the lessons learned and to ensure that screening is completed in the best possible manner until these improvements can be realized. PMID:27638592

  10. Challenges of newborn severe combined immunodeficiency screening among premature infants.

    PubMed

    Ward, Claire E; Baptist, Alan P

    2013-04-01

    Newborn screening for severe combined immunodeficiency (SCID) is currently being performed in many states. It is important to address diagnostic challenges while outcomes are emerging from the first several years of screening. We present the case of a premature infant whose initial newborn screen was strongly positive for SCID. Subsequent lymphocyte subset analysis by flow cytometry was difficult to interpret due to the lack of age-matched reference values, a history of prenatal corticosteroid administration, and the possibility of maternal or posttransfusion engraftment. A repeat newborn screen for SCID ultimately revealed a normal result, confirming the initial newborn screen as a false positive. This case report reveals several of the diagnostic challenges unique to newborn SCID screening in premature infants and highlights the potential for states to address the feasibility of a standard protocol in this population.

  11. What Disorders Are Newborns Screened for in the United States?

    MedlinePlus

    ... the most appropriate application of universal newborn screening tests, technologies, policies, guidelines, and standards. A complete list of the conditions screened for in each state can be found at Baby's First Test . What are some examples of the benefits of ...

  12. Universal Newborn Screening and Adverse Medical Outcomes: A Historical Note

    ERIC Educational Resources Information Center

    Brosco, Jeffrey P.; Seider, Michael I.; Dunn, Angela C.

    2006-01-01

    Universal newborn screening programs for metabolic disorders are typically described as a triumph of medicine and public policy in the US over the last 50 years. Advances in science and technology, including the Human Genome Project, offer the opportunity to expand universal newborn screening programs to include many additional metabolic and…

  13. Mandatory versus voluntary consent for newborn screening?

    PubMed

    Ross, Lainie Friedman

    2010-12-01

    Virtually every infant in the United States undergoes a heel stick within the first week of life to test for a variety of metabolic, endocrine, and hematological conditions as part of state-run universal newborn screening (NBS) programs. The history of this mandatory public health program is examined, as well as whether the policy was morally justifiable. Three changes in NBS practice necessitate a re-evaluation of the mandatory nature of NBS. First is the adoption of NBS for hemoglobinopathies in the 1980s that led to the identification of many sickle cell carriers and carriers of other hemoglobin variants. In all other contexts, carrier testing requires consent, and there is no moral rationale why NBS ought to be exceptional. Second is the application of tandem mass spectrometry (MS/MS) to NBS in the 1990s that led to the identification of many metabolic conditions and variants, some of which were not treatable and others of which had unknown clinical relevance. To the extent that the conditions do not need emergent diagnosis and treatment, there is less justification for mandatory screening. Third, there is great interest in using residual blood spots for research, and the cornerstone of research ethics is the voluntary consent of the participant (or his or her proxy). These three changes support revising mandatory NBS with a tiered consent process to best balance respect for parental autonomy and the promotion of children's health.

  14. Conference on Newborn Hearing Screening; Proceedings Summary and Recommendations.

    ERIC Educational Resources Information Center

    Alexander Graham Bell Association for the Deaf, Inc., Washington, DC.

    Presented in the conference proceedings are schedule and list of participants, seven major papers, and the newborn hearing screening recommendations of the interdisciplinary conference on newborn hearing and early identification of hearing impairment. Neonatal auditory testing is reviewed by Sanford E. Gerber, and Sheldon B. Korones gives a…

  15. Single newborn screen or routine second screening for primary congenital hypothyroidism

    PubMed Central

    Shapira, Stuart K.; Hinton, Cynthia F.; Held, Patrice K.; Jones, Elizabeth; Hannon, W. Harry; Ojodu, Jelili

    2015-01-01

    Routine second screening of most newborns at 8–14 days of life for a panel of newborn conditions occurs in 12 U.S. states, while newborns in the other states typically undergo only a single routine newborn screen. The study objective was to evaluate screening consequences for primary congenital hypothyroidism (CH) in one- and two-screen states according to laboratory practices and medical or biochemical characteristics of screen-positive cases. Individual-level medical and biochemical data were retrospectively collected and analyzed for 2,251 primary CH cases in one-screen (CA, WI) and two-screen (AL, DE, MD, OR, TX) states. Aggregate data were collected and analyzed for medical and biochemical characteristics of all screened newborns in the states. Among the states evaluated in this study, the detection rate of primary CH was higher in the one-screen states. In the two-screen states, 11.5% of cases were detected on the second screen. In multivariate analyses, only race/ethnicity was a significant predictor of cases identified on the first versus second screen, which likely reflects a physiologic difference in primary CH presentation. Newborn screening programs must heed the potential for newborns with CH not being detected by a single screen, particularly newborns of certain races/ethnicities. If the two-screen states converted to a single screen using their current algorithms, newborns currently identified on the routine second screen would presumably not be detected, resulting in probable delayed diagnosis and treatment. However, based on the one-screen state experiences, with appropriate modifications in screening method and algorithm, the two-screen states might convert to single screen operation for CH without loss in performance. PMID:26293295

  16. Disorders of vitamin B12 metabolism presenting through newborn screening.

    PubMed

    Fletcher, Janice

    2008-12-01

    Elevated propionyl C3 carnitine is the most common abnormality seen in tandem mass spectrometry newborn screening profiles, with an incidence of 0.15% seen in our South Australian newborn screening programme. The most common cause for this result in our population is vitamin B12 deficiency but differential diagnoses include the inherited disorders of propionic and methylmalonic acid metabolism and cobalamin deficiencies. An approach to confirmatory testing and subsequent management of infants with elevated propionic carnitine is presented.

  17. Whole-Genome Screening of Newborns? The Constitutional Boundaries of State Newborn Screening Programs.

    PubMed

    King, Jaime S; Smith, Monica E

    2016-01-01

    State newborn screening (NBS) programs routinely screen nearly all of the 4 million newborns in the United States each year for ∼30 primary conditions and a number of secondary conditions. NBS could be on the cusp of an unprecedented expansion as a result of advances in whole-genome sequencing (WGS). As WGS becomes cheaper and easier and as our knowledge and understanding of human genetics expand, the question of whether WGS has a role to play in state NBS programs becomes increasingly relevant and complex. As geneticists and state public health officials begin to contemplate the technical and procedural details of whether WGS could benefit existing NBS programs, this is an opportune time to revisit the legal framework of state NBS programs. In this article, we examine the constitutional underpinnings of state-mandated NBS and explore the range of current state statutes and regulations that govern the programs. We consider the legal refinements that will be needed to keep state NBS programs within constitutional bounds, focusing on 2 areas of concern: consent procedures and the criteria used to select new conditions for NBS panels. We conclude by providing options for states to consider when contemplating the use of WGS for NBS.

  18. Whole-Genome Screening of Newborns? The Constitutional Boundaries of State Newborn Screening Programs

    PubMed Central

    King, Jaime S.; Smith, Monica E.

    2016-01-01

    State newborn screening (NBS) programs routinely screen nearly all of the 4 million newborns in the United States each year for ~30 primary conditions and a number of secondary conditions. NBS could be on the cusp of an unprecedented expansion as a result of advances in whole-genome sequencing (WGS). As WGS becomes cheaper and easier and as our knowledge and understanding of human genetics expand, the question of whether WGS has a role to play in state NBS programs becomes increasingly relevant and complex. As geneticists and state public health officials begin to contemplate the technical and procedural details of whether WGS could benefit existing NBS programs, this is an opportune time to revisit the legal framework of state NBS programs. In this article, we examine the constitutional underpinnings of state-mandated NBS and explore the range of current state statutes and regulations that govern the programs. We consider the legal refinements that will be needed to keep state NBS programs within constitutional bounds, focusing on 2 areas of concern: consent procedures and the criteria used to select new conditions for NBS panels. We conclude by providing options for states to consider when contemplating the use of WGS for NBS. PMID:26729704

  19. Lessons Learned From Newborn Screening for Critical Congenital Heart Defects.

    PubMed

    Oster, Matthew E; Aucott, Susan W; Glidewell, Jill; Hackell, Jesse; Kochilas, Lazaros; Martin, Gerard R; Phillippi, Julia; Pinto, Nelangi M; Saarinen, Annamarie; Sontag, Marci; Kemper, Alex R

    2016-05-01

    Newborn screening for critical congenital heart defects (CCHD) was added to the US Recommended Uniform Screening Panel in 2011. Within 4 years, 46 states and the District of Columbia had adopted it into their newborn screening program, leading to CCHD screening being nearly universal in the United States. This rapid adoption occurred while there were still questions about the effectiveness of the recommended screening protocol and barriers to follow-up for infants with a positive screen. In response, the Centers for Disease Control and Prevention partnered with the American Academy of Pediatrics to convene an expert panel between January and September 2015 representing a broad array of primary care, neonatology, pediatric cardiology, nursing, midwifery, public health, and advocacy communities. The panel's goal was to review current practices in newborn screening for CCHD and to identify opportunities for improvement. In this article, we describe the experience of CCHD screening in the United States with regard to: (1) identifying the target lesions for CCHD screening; (2) optimizing the algorithm for screening; (3) determining state-level challenges to implementation and surveillance of CCHD; (4) educating all stakeholders; (5) performing screening using the proper equipment and in a cost-effective manner; and (6) implementing screening in special settings such as the NICU, out-of-hospital settings, and areas of high altitude.

  20. Lessons Learned From Newborn Screening for Critical Congenital Heart Defects

    PubMed Central

    Oster, Matthew E.; Aucott, Susan W.; Glidewell, Jill; Hackell, Jesse; Kochilas, Lazaros; Martin, Gerard R.; Phillippi, Julia; Pinto, Nelangi M.; Saarinen, Annamarie; Sontag, Marci; Kemper, Alex R.

    2016-01-01

    Newborn screening for critical congenital heart defects (CCHD) was added to the US Recommended Uniform Screening Panel in 2011. Within 4 years, 46 states and the District of Columbia had adopted it into their newborn screening program, leading to CCHD screening being nearly universal in the United States. This rapid adoption occurred while there were still questions about the effectiveness of the recommended screening protocol and barriers to follow-up for infants with a positive screen. In response, the Centers for Disease Control and Prevention partnered with the American Academy of Pediatrics to convene an expert panel between January and September 2015 representing a broad array of primary care, neonatology, pediatric cardiology, nursing, midwifery, public health, and advocacy communities. The panel’s goal was to review current practices in newborn screening for CCHD and to identify opportunities for improvement. In this article, we describe the experience of CCHD screening in the United States with regard to: (1) identifying the target lesions for CCHD screening; (2) optimizing the algorithm for screening; (3) determining state-level challenges to implementation and surveillance of CCHD; (4) educating all stakeholders; (5) performing screening using the proper equipment and in a cost-effective manner; and (6) implementing screening in special settings such as the NICU, out-of-hospital settings, and areas of high altitude. PMID:27244826

  1. Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states

    PubMed Central

    Held, Patrice K.; Shapira, Stuart K.; Hinton, Cynthia F.; Jones, Elizabeth; Hannon, W. Harry; Ojodu, Jelili

    2015-01-01

    There is no clear consensus among state newborn screening programs on whether routine second screening of newborns identifies clinically relevant cases of congenital adrenal hyperplasia. This retrospective study evaluated laboratory practices, along with biochemical and medical characteristics of congenital adrenal hyperplasia (CAH) cases (1) detected on the first newborn screen in one-screen compared to two-screen states, and (2) detected on the first versus the second screen in the two-screen states, to determine the effectiveness of a second screen. A total of 374 confirmed cases of CAH from 2 one-screen states and 5 two-screen states were included in this study. Demographic data and diagnostic information on each reported case were collected and analyzed. Additionally, laboratory data, including screening methodologies and algorithms, were evaluated. The one-screen states reported 99 cases of CAH out of 1,740,586 (1 in 17,500) newborns screened: 88 (89%) identified on first screen and 5 (5%) identified on targeted second screen. The two-screen states reported 275 cases of CAH out of 2,629,627 (1 in 9,500) newborns screened: 165 (60%) identified on first screen and 99 (36%) identified on second screen. Using a multivariate model, the only significant predictor of whether a case was identified on the first or second screen in the two-screen states was the type of CAH. Compared with classical salt-wasting CAH, classical simple virilizing and non-classical CAH cases were less likely to be detected on the first versus the second screen. The routine second newborn screen is important for identifying children with CAH, particularly simple virilizing and non-classical forms, which might otherwise not be captured through a single screen. PMID:26296712

  2. Digital Microfluidics: A Future Technology in the Newborn Screening Laboratory?

    PubMed Central

    Millington, David S.; Sista, Ramakrishna; Eckhardt, Allen; Rouse, Jeremy; Bali, Deeksha; Goldberg, Ronald; Cotten, Michael; Buckley, Rebecca; Pamula, Vamsee

    2010-01-01

    Expansion of newborn screening for inherited metabolic disorders using tandem mass spectrometry has generated interest in screening for other treatable conditions, including lysosomal storage diseases. Limitations to expansion include labor and equipment costs. We describe a cost-effective new platform that reduces the time to result reporting and can perform multiplexing assays requiring different platforms. Immunoassays and enzyme activity assays currently used in newborn screening have been translated to a disposable microchip programmed to dispense, transport, mix, wash, and incubate individual microdroplets from specimens, including dried blood spot extracts, and reagents all under software control. The specimen and reagents consumed are approximately 1% of those required by equivalent bench assays. In addition to immunologic and enzymatic assays, DNA amplification, amplicon detection, and sequencing have been demonstrated using the same microchips and control equipment. Recently, the multiplexing of 4 different enzyme activities has also been demonstrated with negligible cross-contamination. We review assays relevant to newborn screening. PMID:20207266

  3. Newborn Sickle Cell Screening: Benefits and Burdens Realized.

    ERIC Educational Resources Information Center

    Rowley, Peter T.; Huntzinger, Donna J.

    1983-01-01

    Follow-up data on a program that screened 17 newborns for sickle cell anemia suggests that in order to derive maximum benefit from such screening physicians need to better understand the differential diagnosis, treatment, and inheritance of sickle cell disease, and individual guidance must be provided to families. (GC)

  4. Newborn Screening and Cascade Testing for FMR1 Mutations

    PubMed Central

    Sorensen, Page L.; Gane, Louise W.; Yarborough, Mark; Hagerman, Randi; Tassone, Flora

    2014-01-01

    We describe an ongoing pilot project in which newborn screening (NBS) for FMR1 mutations and subsequent cascade testing are performed by the MIND Institute at the University of California, Davis Medical Center (UCDMC). To date, out of 3042 newborns initially screened, 44 extended family members have been screened by cascade testing of extended family members once a newborn is identified. 14 newborns (7 males and 7 females) and 27 extended family members (5 males and 22 females) have been identified with FMR1 mutations. Three family histories are discussed in detail, each demonstrating some benefits and risks of NBS and cascade testing for FMR1 mutations in extended family members. While we acknowledge inherent risks, we propose that with genetic counseling, clinical follow-up of identified individuals and cascade testing, newborn screening (NBS) has significant benefits. Treatment for individuals in the extended family who would otherwise not have received treatment can be beneficial. In addition, knowledge of carrier status can lead to lifestyle changes and prophylactic interventions that are likely to reduce the risk of late onset neurological or psychiatric problems in carriers. Also with identification of carrier family members through NBS, reproductive choices become available to those who would not have known that they were at risk to have offspring with fragile X syndrome. PMID:23239591

  5. Maternal attitudes to newborn screening for fragile X syndrome.

    PubMed

    Christie, Louise; Wotton, Tiffany; Bennetts, Bruce; Wiley, Veronica; Wilcken, Bridget; Rogers, Carolyn; Boyle, Jackie; Turner, Catherine; Hansen, Jessica; Hunter, Matthew; Goel, Himanshu; Field, Michael

    2013-02-01

    Although fragile X syndrome (FXS) is the commonest cause of inherited intellectual disability the mean age of diagnosis in Australia is 5.5 years. Newborn screening for FXS can provide an early diagnosis, preventing the "diagnostic odyssey", allowing access to early interventions, and providing reproductive information for parents. Parents of affected children support newborn screening, but few clinical studies have evaluated community attitudes. A pilot study in 2009-2010 was performed in a tertiary hospital to explore feasibility and maternal attitudes. FXS testing of male and female newborns was offered to mothers in addition to routine newborn screening. Mothers were provided with information about FXS, inheritance pattern, carrier status, and associated adult-onset disorders. One thousand nine hundred seventy-one of 2,094 mothers (94%) consented to testing of 2,000 newborns. 86% completed the attitudinal survey and 10% provided written comments. Almost all parents (99%) elected to be informed of both premutation and full mutation status and there was little concern about identification of carrier status or associated adult-onset disorders. Most mothers (96%) were comfortable being approached in the postnatal period and supported testing because no extra blood test was required. Mothers considered an early diagnosis beneficial to help prepare for a child with additional needs (93%) and for reproductive planning (64%). Some were anxious about the potential test results (10%) and others felt their feelings towards their newborn may change if diagnosed with FXS (16%). High participation rates and maternal attitudes indicate a high level of maternal acceptance and voluntary support for newborn screening for FXS.

  6. Screening Newborns' Hearing Now Standard | NIH MedlinePlus the Magazine

    MedlinePlus

    ... began in 1999, when President Clinton signed the Newborn and Infant Hearing Screening and Intervention Act, authorizing the coordination and funding of statewide newborn and infant hearing screening programs. In December 2010, President Obama ...

  7. Expanding Newborn Screening for Lysosomal Disorders: Opportunities and Challenges

    ERIC Educational Resources Information Center

    Waggoner, Darrel J.; Tan, Christopher A.

    2011-01-01

    Newborn screening (NBS), since its implementation in the 1960s, has traditionally been successful in reducing mortality and disability in children with a range of different conditions. Lysosomal storage disorders (LSD) are a heterogeneous group of inherited metabolic diseases that result from lysosomal dysfunction. Based on available treatment and…

  8. Students as Technicians: Screening Newborns for Cystic Fibrosis

    ERIC Educational Resources Information Center

    Gusky, Sharon

    2014-01-01

    In this activity, freshman college students learn biotechnology techniques while playing the role of a laboratory technician. They perform simulations of three diagnostic tests used to screen newborns for cystic fibrosis. By performing an ELISA, a PCR analysis, and a conductivity test, students learn how biotechnology techniques can be used to…

  9. Cost Analysis of TEOAE-Based Universal Newborn Hearing Screening.

    ERIC Educational Resources Information Center

    Weirather, Yusnita; Korth, Nancy; White, Karl R.; Woods-Kershner, Nancy; Downs, Diane

    1997-01-01

    After reviewing the extant literature, this article describes a cost analysis of the transient evoked otoaoustic emissions (TEOAE)-based universal newborn hearing screening program. Reasons why the cost per baby ($7.42) is lower than in previous reports are explained and the benefits of having accurate cost analysis data are summarized. (Author/CR)

  10. Changing Perspectives on the Benefits of Newborn Screening

    ERIC Educational Resources Information Center

    Bailey, Donald B., Jr.; Beskow, Laura M.; Davis, Arlene M.; Skinner, Debra

    2006-01-01

    The likelihood of benefit is fundamental to decision making about newborn screening. But benefit is construed in different ways by different stakeholders. This article begins with a review of benefit as considered historically by various expert panels and organizations. We then show how 78 conditions fared when experts recently rated them on…

  11. Newborn Hearing Screening: An Analysis of Current Practices

    ERIC Educational Resources Information Center

    Houston, K. Todd; Bradham, Tamala S.; Munoz, Karen F.; Guignard, Gayla Hutsell

    2011-01-01

    State coordinators of early hearing detection and intervention (EHDI) programs completed a strengths, weaknesses, opportunities, and threats, or SWOT, analysis that consisted of 12 evaluative areas of EHDI programs. For the newborn hearing screening area, a total of 293 items were listed by 49 EHDI coordinators, and themes were identified within…

  12. Appropriateness of Newborn Screening for α1-Antitrypsin Deficiency

    PubMed Central

    Teckman, Jeffrey; Pardee, Erin; Howell, R. Rodney; Mannino, David; Sharp, Richard R.; Brantly, Mark; Wanner, Adam; Lamson, Jamie

    2014-01-01

    ABSTRACT Objective: The Alpha-1 Foundation convened a workshop to consider the appropriateness of newborn screening for α-1-antitrypsin (AAT) deficiency. Methods: A review of natural history and technical data was conducted. Results: Homozygous ZZ AAT deficiency is a common genetic disease occurring in 1 in 2000 to 3500 births; however, it is underrecognized and most patients are undiagnosed. AAT deficiency can cause chronic liver disease, cirrhosis, and liver failure in children and adults, and lung disease in adults. The clinical course is highly variable. Some neonates present with cholestatic hepatitis and some children require liver transplantation, but many patients remain well into adulthood. Some adults develop emphysema. There is no treatment for AAT liver disease, other than supportive care and liver transplant. There are no data on the effect of early diagnosis on liver disease. Avoidance of smoking is of proven benefit to reduce future lung disease, as is protein replacement therapy. Justifying newborn screening with the aim of reducing smoking and reducing adult lung disease-years in the future would be a significant paradigm shift for the screening field. Recent passage of the Genetic Information Nondiscrimination Act (GINA) and the Affordable Care Act may have a major effect on reducing the psychosocial and financial risks of newborn screening because many asymptomatic children would be identified. Data on the risk–benefit ratio of screening in the new legal climate are lacking. Conclusions: Workshop participants recommended a series of pilot studies focused on generating new data on the risks and benefits of newborn screening. PMID:24121147

  13. Current Status of Newborn Screening: Decision-Making about the Conditions to Include in Screening Programs

    ERIC Educational Resources Information Center

    Watson, Michael S.

    2006-01-01

    Newborn screening is considered a highly successful public health program that has resulted in the reduction of mortality, mental retardation, and other serious disabilities in thousands of children since the introduction of screening for phenylketonuria (PKU) in the 1960s. Programs are based in state public health departments such that each state…

  14. [Newborn hearing screening in Rio de Janeiro's municipal network, Brazil].

    PubMed

    Lima, Priscila Tavares; Goldbach, Márcia Goldfeld; Monteiro, Márcia Cavadas; Ribeiro, Márcia Gonçalves

    2015-01-01

    Hearing deficiencies are a prevalent disease and justify the need for regulation of the Laws and their execution through Hearing Health Care Ordinances. In line with public policies, maternity hospitals that were part of the network began to implement the Newborn Hearing Screening (NHS) service, as had occurred in the city of Rio de Janeiro. The otoacoustic emissions test is used for NHS as it is a rapid and highly reliable method that is easy to perform and gives objective results. The scope of this article is to get fully acquainted with the assistance and care for the hearing health of newborns in maternity wards of the Municipal Health Grid. It is an observational, descriptive, cross-sectional analysis with frequency distribution, and was conducted at SMS-RJ Maternity hospitals that perform NHS. Three maternity hospitals with NHS (A, B and C) were identified, in which 1,865 live newborns were recorded. Of this total, 40.5% performed the NHS exam. In maternity hospitals A and B, the NHS exam was applied to 54.6%, of which 97.3% passed and only 1.8% failed and needed to be referred to the high complexity unit. The NHS is the initial stage of the Hearing Health Care Program for the newborn. It is important that the NHS services should be fully integrated into the network through the Hearing Health Care Program.

  15. The Wisconsin approach to newborn screening for severe combined immunodeficiency.

    PubMed

    Verbsky, James; Thakar, Monica; Routes, John

    2012-03-01

    Severe combined immunodeficiency (SCID) is a life-threatening disease of infants that is curable with hematopoietic cell transplantation if detected early. Population-based screening for SCID using the T-cell receptor excision circle (TREC) assay began in Wisconsin in 2008; 5 infants with SCID or other forms of severe T-cell lymphopenia (TCL) have been detected, and no infants with SCID have been missed. This review will provide an overview of the TREC screening assay and an update of the findings from Wisconsin on all infants screened from January 1, 2008, until December 31, 2010. Importantly, we give practical recommendations regarding newborn population-based screening using the TREC assay, including the evaluation and care of infants detected.

  16. [Newborn screening for galactosemia: a health economics evaluation].

    PubMed

    Camelo Junior, José Simon; Fernandes, Maria Inez Machado; Jorge, Salim Moysés; Maciel, Lea Maria Zanini; Santos, Jair Lício Ferreira; Camargo, Alceu Salles; Passador, Cláudia Souza; Camelo, Sílvia Helena Henriques

    2011-04-01

    This study assesses the efficiency of the galactosemia add-on test in neonatal screening performed on regular Guthrie card blood spots. Based on estimated average incidence of galactosemia (1:19,984 newborns) in São Paulo State, Brazil, the study develops a cost-benefit analysis model, using a B/C ratio and a 9.25% annual interest rate in order to decapitalize the results. Sensitivity analysis is also performed, varying (as a function of the interest or discount rate) from 0 and 20% and according to the 95% confidence interval (1:7,494-1:59,953 newborns). The results show that the savings obtained by improved health of galactosemic patients detected early by add-on neonatal screening is superior to the costs (B/C=1.33), characterizing galactosemia add-on testing in neonatal screening as an efficient policy. The lower the prevailing interest rate in the economy, the more efficient the neonatal screening policy.

  17. Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

    PubMed Central

    Kwan, Antonia; Abraham, Roshini S.; Currier, Robert; Brower, Amy; Andruszewski, Karen; Abbott, Jordan K.; Baker, Mei; Ballow, Mark; Bartoshesky, Louis E.; Bonagura, Vincent R.; Bonilla, Francisco A.; Brokopp, Charles; Brooks, Edward; Caggana, Michele; Celestin, Jocelyn; Church, Joseph A.; Comeau, Anne Marie; Connelly, James A.; Cowan, Morton J.; Cunningham-Rundles, Charlotte; Dasu, Trivikram; Dave, Nina; De La Morena, Maria T.; Duffner, Ulrich; Fong, Chin-To; Forbes, Lisa; Freedenberg, Debra; Gelfand, Erwin W.; Hale, Jaime E.; Celine Hanson, I.; Hay, Beverly N.; Hu, Diana; Infante, Anthony; Johnson, Daisy; Kapoor, Neena; Kay, Denise M.; Kohn, Donald B.; Lee, Rachel; Lehman, Heather; Lin, Zhili; Lorey, Fred; Abdel-Mageed, Aly; Manning, Adrienne; McGhee, Sean; Moore, Theodore B.; Naides, Stanley J.; Notarangelo, Luigi D.; Orange, Jordan S.; Pai, Sung-Yun; Porteus, Matthew; Rodriguez, Ray; Romberg, Neil; Routes, John; Ruehle, Mary; Rubenstein, Arye; Saavedra-Matiz, Carlos A.; Scott, Ginger; Scott, Patricia M.; Secord, Elizabeth; Seroogy, Christine; Shearer, William T.; Siegel, Subhadra; Silvers, Stacy K.; Stiehm, E. Richard; Sugerman, Robert W.; Sullivan, John L.; Tanksley, Susan; Tierce, Millard L.; Verbsky, James; Vogel, Beth; Walker, Rosalyn; Walkovich, Kelly; Walter, Jolan E.; Wasserman, Richard L.; Watson, Michael S.; Weinberg, Geoffrey A.; Weiner, Leonard B.; Wood, Heather; Yates, Anne B.; Puck, Jennifer M.

    2015-01-01

    IMPORTANCE Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Columbia, and the Navajo Nation conduct population-wide newborn screening for SCID. The incidence of SCID is estimated at 1 in 100 000 births. OBJECTIVES To present data from a spectrum of SCID newborn screening programs, establish population-based incidence for SCID and other conditions with T-cell lymphopenia, and document early institution of effective treatments. DESIGN Epidemiological and retrospective observational study. SETTING Representatives in states conducting SCID newborn screening were invited to submit their SCID screening algorithms, test performance data, and deidentified clinical and laboratory information regarding infants screened and cases with nonnormal results. Infants born from the start of each participating program from January 2008 through the most recent evaluable date prior to July 2013 were included. Representatives from 10 states plus the Navajo Area Indian Health Service contributed data from 3 030 083 newborns screened with a TREC test. MAIN OUTCOMES AND MEASURES Infants with SCID and other diagnoses of T-cell lymphopenia were classified. Incidence and, where possible, etiologies were determined. Interventions and survival were tracked. RESULTS Screening detected 52 cases of typical SCID, leaky SCID, and Omenn syndrome, affecting 1 in 58 000 infants (95%CI, 1/46 000-1/80 000). Survival of SCID-affected infants through their diagnosis and immune reconstitution was 87%(45/52), 92%(45/49) for infants who received transplantation, enzyme replacement, and/or gene therapy. Additional interventions for SCID and non-SCID T-cell lymphopenia included immunoglobulin infusions, preventive antibiotics, and avoidance of live vaccines. Variations in

  18. A Paper-Based Test for Screening Newborns for Sickle Cell Disease.

    PubMed

    Piety, Nathaniel Z; George, Alex; Serrano, Sonia; Lanzi, Maria R; Patel, Palka R; Noli, Maria P; Kahan, Silvina; Nirenberg, Damian; Camanda, João F; Airewele, Gladstone; Shevkoplyas, Sergey S

    2017-04-03

    The high cost, complexity and reliance on electricity, specialized equipment and supplies associated with conventional diagnostic methods limit the scope and sustainability of newborn screening for sickle cell disease (SCD) in sub-Saharan Africa and other resource-limited areas worldwide. Here we describe the development of a simple, low-cost, rapid, equipment- and electricity-free paper-based test capable of detecting sickle hemoglobin (HbS) in newborn blood samples with a limit of detection of 2% HbS. We validated this newborn paper-based test in a cohort of 159 newborns at an obstetric hospital in Cabinda, Angola. Newborn screening results using the paper-based test were compared to conventional isoelectric focusing (IEF). The test detected the presence of HbS with 81.8% sensitivity and 83.3% specificity, and identified SCD newborns with 100.0% sensitivity and 70.7% specificity. The use of the paper-based test in a two-stage newborn screening process could have excluded about 70% of all newborns from expensive confirmatory testing by IEF, without missing any of the SCD newborns in the studied cohort. This study demonstrates the potential utility of the newborn paper-based test for reducing the overall cost of screening newborns for SCD and thus increasing the practicality of universal newborn SCD screening programs in resource-limited settings.

  19. A Paper-Based Test for Screening Newborns for Sickle Cell Disease

    PubMed Central

    Piety, Nathaniel Z.; George, Alex; Serrano, Sonia; Lanzi, Maria R.; Patel, Palka R.; Noli, Maria P.; Kahan, Silvina; Nirenberg, Damian; Camanda, João F.; Airewele, Gladstone; Shevkoplyas, Sergey S.

    2017-01-01

    The high cost, complexity and reliance on electricity, specialized equipment and supplies associated with conventional diagnostic methods limit the scope and sustainability of newborn screening for sickle cell disease (SCD) in sub-Saharan Africa and other resource-limited areas worldwide. Here we describe the development of a simple, low-cost, rapid, equipment- and electricity-free paper-based test capable of detecting sickle hemoglobin (HbS) in newborn blood samples with a limit of detection of 2% HbS. We validated this newborn paper-based test in a cohort of 159 newborns at an obstetric hospital in Cabinda, Angola. Newborn screening results using the paper-based test were compared to conventional isoelectric focusing (IEF). The test detected the presence of HbS with 81.8% sensitivity and 83.3% specificity, and identified SCD newborns with 100.0% sensitivity and 70.7% specificity. The use of the paper-based test in a two-stage newborn screening process could have excluded about 70% of all newborns from expensive confirmatory testing by IEF, without missing any of the SCD newborns in the studied cohort. This study demonstrates the potential utility of the newborn paper-based test for reducing the overall cost of screening newborns for SCD and thus increasing the practicality of universal newborn SCD screening programs in resource-limited settings. PMID:28367971

  20. Newborn screening of inherited metabolic disorders: the Italian situation.

    PubMed

    Focardi, M; Pinchi, V; Defraia, B; Gualco, B; Varvara, G; Norelli, G A

    2016-01-01

    Starting from an international overview of the current status of screening programs, the present paper focuses on the legal situation in Italy and the great differences among Italian regions. Since the introduction of tandem mass spectrometry (MS/MS) in the ‘90s the paradigm “one spot-one disease” changed. Only recently, some regions issued legislative acts to promote expanded newborn screening with MS/MS. This approach raises medico-legal and ethical issues because a fast neonatal diagnosis of an inborn error of metabolism (IEM) could increase chances of an early treatment and reduce disabilities, therefore citizens ought to have the same access to care countrywide. Enacting a mandatory standard for a disease screening panel using MS/MS and a few centers specialized in diagnosis, treatment and follow-up of patients affected by IEM (inborn errors of metabolism) can reduce legal and ethical issues.

  1. Detection of critical congenital heart defects: Review of contributions from prenatal and newborn screening.

    PubMed

    Olney, Richard S; Ailes, Elizabeth C; Sontag, Marci K

    2015-04-01

    In 2011, statewide newborn screening programs for critical congenital heart defects began in the United States, and subsequently screening has been implemented widely. In this review, we focus on data reports and collection efforts related to both prenatal diagnosis and newborn screening. Defect-specific, maternal, and geographic factors are associated with variations in prenatal detection, so newborn screening provides a population-wide safety net for early diagnosis. A new web-based repository is collecting information on newborn screening program policies, quality indicators related to screening programs, and specific case-level data on infants with these defects. Birth defects surveillance programs also collect data about critical congenital heart defects, particularly related to diagnostic timing, mortality, and services. Individuals from state programs, federal agencies, and national organizations will be interested in these data to further refine algorithms for screening in normal newborn nurseries, neonatal intensive care settings, and other special populations; and ultimately to evaluate the impact of screening on outcomes.

  2. "Collodion baby": A unique challenge for newborn hearing screening.

    PubMed

    Jasper, Kayla M; Gaudreau, Philip; Cartee, Todd V; Reilly, Brian K

    2016-01-01

    We present an infant with collodion membrane who had an obstructed external auditory canal, causing the infant to fail her newborn hearing screen (otoacoustic emissions) bilaterally. An auditory brainstem response (ABR) test was deferred due to the reported increased risk of infections in these babies. Meticulous but gentle debridement of the membranes on the external auditory canal, using a combination of otic drops (ofloxacin), emollients (baby oil/mineral oil), and suctioning, permitted the infant to ultimately pass otoacoustic emissions bilaterally and subsequent serial audiograms.

  3. Appropriateness of newborn screening for classic galactosaemia: a systematic review.

    PubMed

    Varela-Lema, L; Paz-Valinas, L; Atienza-Merino, G; Zubizarreta-Alberdi, R; Villares, R Vizoso; López-García, M

    2016-09-01

    Currently, there is no universal agreement on galactosaemia screening, fundamentally because of the risk-benefit uncertainties. We conducted two exhaustive systematic searches in the main electronic databases (PubMed, Embase, Cochrane, etc.) to recover relevant information about the disease and screening test/s in order to support decision making in Spain. All of the 45 studies identified that covered disease issues were retrospective case series or cross-sectional analysis (level-4 evidence). Studies consistently found that the majority of patients presented characteristic symptomatology before diagnosis. Long term disabilities were not significantly correlated with age of diagnosis, onset of dietary restriction or strict diet compliance. The five studies that provided accuracy data used different cut-off points and verification tests, and thus differed in their definitions of a positive case (level-3b evidence). The estimated sensitivity was 100 % and the specificity 99.9 %. The false-positive rate ranged from 0.0005 % to 0.25 %, and the PPV from 0 % to 64.3 %. The comparative clinical effectiveness in relation to not screening or implementation of other programs is unknown. In summary, existing evidence remains insufficient to establish the appropriateness of newborn screening for galactosaemia screening, although health benefits could be expected if early diagnosis and treatment is achieved. If screening is implemented in Spain, it would be important that a pilot programme be implemented to assess false positive rate and ensure that early diagnosis is not delayed.

  4. Newborn screening: need of the hour in India.

    PubMed

    Verma, Ishwar C; Bijarnia-Mahay, Sunita; Jhingan, Geetu; Verma, Jyotsna

    2015-01-01

    After a review of the current health scene in India, the authors suggest that the Government of India should consider seriously, the introduction of new born screening. As a first step, a central advisory committee should be constituted to recommend what is required to be done to strengthen the infrastructure and the manpower to carry out new born screening, and the disorders to be screened. In the urban hospitals newborn screening (NBS) for three disorders can be easily introduced (congenital hypothyroidism, congenital adrenal hyperplasia and G-6-PD deficiency), while in the rural areas this should begin with congenital hypothyroidism, especially in the sub Himalayan areas. Concurrently, logistic issues regarding diets and special therapies for inborn errors of metabolism should be sorted out, laboratories to confirm the diagnosis should be set up, and a cadre of metabolic physicians should be build up to treat those identified to have inborn errors of metabolism. Once these are established on a firm footing, tandem mass spectrometry should be introduced as it allows the identification of a number of disorders in an affordable manner. The recent improvements and current trends in health care in India have created the necessary infrastructure for adopting NBS for the benefit of infants in India.

  5. Newborn, carrier, and early childhood screening recommendations for fragile X.

    PubMed

    Abrams, Liane; Cronister, Amy; Brown, William T; Tassone, Flora; Sherman, Stephanie L; Finucane, Brenda; McConkie-Rosell, Allyn; Hagerman, Randi; Kaufmann, Walter E; Picker, Jonathan; Coffey, Sarah; Skinner, Debra; Johnson, Vanessa; Miller, Robert; Berry-Kravis, Elizabeth

    2012-12-01

    Fragile X syndrome, diagnosed by Fragile X Mental Retardation 1 (FMR1) DNA testing, is the most common single-gene cause of inherited intellectual disability. The expanded CGG mutation in the FMR1 gene, once thought to have clinical significance limited to fragile X syndrome, is now well established as the cause for other fragile X-associated disorders including fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome in individuals with the premutation (carriers). The importance of early diagnostic and management issues, in conjunction with the identification of family members at risk for or affected by FMR1 mutations, has led to intense discussion about the appropriate timing for early identification of FMR1 mutations. This review includes an overview of the fragile X-associated disorders and screening efforts to date, and discussion of the advantages and barriers to FMR1 screening in newborns, during childhood, and in women of reproductive age. Comparison with screening programs for other common genetic conditions is discussed to arrive at action steps to increase the identification of families affected by FMR1 mutations.

  6. Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes

    PubMed Central

    Howard, Heidi Carmen; Knoppers, Bartha Maria; Cornel, Martina C; Wright Clayton, Ellen; Sénécal, Karine; Borry, Pascal

    2015-01-01

    The advent and refinement of sequencing technologies has resulted in a decrease in both the cost and time needed to generate data on the entire sequence of the human genome. This has increased the accessibility of using whole-genome sequencing and whole-exome sequencing approaches for analysis in both the research and clinical contexts. The expectation is that more services based on these and other high-throughput technologies will become available to patients and the wider population. Some authors predict that sequencing will be performed once in a lifetime, namely, shortly after birth. The Public and Professional Policy Committee of the European Society of Human Genetics, the Human Genome Organisation Committee on Ethics, Law and Society, the PHG Foundation and the P3G International Paediatric Platform address herein the important issues and challenges surrounding the potential use of sequencing technologies in publicly funded newborn screening (NBS) programmes. This statement presents the relevant issues and culminates in a set of recommendations to help inform and guide scientists and clinicians, as well as policy makers regarding the necessary considerations for the use of genome sequencing technologies and approaches in NBS programmes. The primary objective of NBS should be the targeted analysis and identification of gene variants conferring a high risk of preventable or treatable conditions, for which treatment has to start in the newborn period or in early childhood. PMID:25626707

  7. The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention: Thirty-five Year Experience Assuring Newborn Screening Laboratory Quality.

    PubMed

    De Jesús, Víctor R; Mei, Joanne V; Cordovado, Suzanne K; Cuthbert, Carla D

    Newborn screening is the largest genetic testing effort in the United States and is considered one of the ten great public health achievements during the first 10 years of the 21(st) century. For over 35 years, the Newborn Screening Quality Assurance Program (NSQAP) at the US Centers for Disease Control and Prevention has helped NBS laboratories ensure that their testing does not delay diagnosis, minimizes false-positive reports, and sustains high-quality testing performance. It is a multi-component program that provides comprehensive quality assurance services for dried blood spot testing. The NSQAP, the Biochemical Mass Spectrometry Laboratory (BMSL), the Molecular Quality Improvement Program (MQIP) and the Newborn Screening Translation Research Initiative (NSTRI), aid screening laboratories achieve technical proficiency and maintain confidence in their performance while processing large volumes of specimens daily. The accuracy of screening tests could be the difference between life and death for many babies; in other instances, identifying newborns with a disorder means that they can be treated and thus avoid life-long disability or severe cognitive impairment. Thousands of newborns and their families have benefited from reliable and accurate testing that has been accomplished by a network of screening laboratories and the NSQAP, BMSL, MQIP and NSTRI.

  8. State-of-the-art for DNA technology in newborn screening.

    PubMed

    McCabe, E R; McCabe, L L

    1999-12-01

    Just as metabolites, hormones and proteins are measured in newborn screening tests, DNA has become an analyte that is important in the screens for certain disorders. DNA confirmatory testing on the original dried blood specimen reduces the age at diagnostic confirmation and antibiotic prophylaxis initiation for neonates with sickle cell disease. Molecular genetic analysis of the initial specimens from newborns with elevated immunoreactive trypsinogen (IRT) for cystic fibrosis (CF) screening permits reduction of the IRT threshold value, improving specificity without compromising sensitivity. Because of this cost reduction, CF neonatal screening programs routinely incorporate DNA confirmatory testing into their initial CF screening algorithm. DNA analysis is also a valuable adjunct in screening programs for congenital adrenal hyperplasia (CAH), improving sensitivity and specificity. Incorporation of DNA into newborn screening programs will continue to be stimulated by development of robust, high throughput technologies for evaluation of this analyte. New paradigms for neonatal screening are evolving, including hearing screening in the newborn nursery. DNA testing, such as for mutations in the connexin 26 gene, may have a role in the evaluation of those screened positive. Newborn screening dried blood specimens are DNA databases. Therefore, there are significant ethical, legal and social issues that must be considered in the storage and utilization of neonatal screening specimens.

  9. Expanded newborn screening by mass spectrometry: New tests, future perspectives.

    PubMed

    Ombrone, Daniela; Giocaliere, Elisa; Forni, Giulia; Malvagia, Sabrina; la Marca, Giancarlo

    2016-01-01

    Tandem mass spectrometry (MS/MS) has become a leading technology used in clinical chemistry and has shown to be particularly sensitive and specific when used in newborn screening (NBS) tests. The success of tandem mass spectrometry is due to important advances in hardware, software and clinical applications during the last 25 years. MS/MS permits a very rapid measurement of many metabolites in different biological specimens by using filter paper spots or directly on biological fluids. Its use in NBS give us the chance to identify possible treatable metabolic disorders even when asymptomatic and the benefits gained by this type of screening is now recognized worldwide. Today the use of MS/MS for second-tier tests and confirmatory testing is promising especially in the early detection of new disorders such as some lysosomal storage disorders, ADA and PNP SCIDs, X-adrenoleucodistrophy (X-ALD), Wilson disease, guanidinoacetate methyltransferase deficiency (GAMT), and Duchenne muscular dystrophy. The new challenge for the future will be reducing the false positive rate by using second-tier tests, avoiding false negative results by using new specific biomarkers and introducing new treatable disorders in NBS programs.

  10. Consolidating newborn screening efforts in the Asia Pacific region : Networking and shared education.

    PubMed

    Padilla, Carmencita David; Therrell, Bradford L

    2012-01-01

    Many of the countries in the Asia Pacific Region, particularly those with depressed and developing economies, are just initiating newborn screening programs for selected metabolic and other congenital disorders. The cultural, geographic, language, and economic differences that exist throughout the region add to the challenges of developing sustainable newborn screening systems. There are currently more developing programs than developed programs within the region. Newborn screening activities in the Asia Pacific Region are particularly important since births there account for approximately half of the world's births. To date, there have been two workshops to facilitate formation of the Asia Pacific Newborn Screening Collaboratives. The 1st Workshop on Consolidating Newborn Screening Efforts in the Asia Pacific Region occurred in Cebu, Philippines, on March 30-April 1, 2008, as a satellite meeting to the 7th Asia Pacific Conference on Human Genetics. The second workshop was held on June 4-5, 2010, in Manila, Philippines. Workshop participants included key policy-makers, service providers, researchers, and consumer advocates from 11 countries with 50% or less newborn screening coverage. Expert lectures included experiences in the United States and the Netherlands, international quality assurance activities and ongoing and potential research activities. Additional meeting support was provided by the U.S. National Institutes of Health, the Centers for Disease Control and Prevention, the U.S. National Newborn Screening and Genetics Resource Center, the International Society for Neonatal Screening, and the March of Dimes. As part of both meeting activities, participants shared individual experiences in program implementation with formal updates of screening information for each country. This report reviews the activities and country reports from two Workshops on Consolidating Newborn Screening Efforts in the Asia Pacific Region with emphasis on the second workshop. It

  11. The Dried Bloodspot: Newborn Screening Research Saving the Lives of Babies

    ERIC Educational Resources Information Center

    Levy-Fisch, Jill; Gartzke, Micki; Leight, Kelly

    2010-01-01

    Newborn screening is a test done on every child born in the US shortly after birth to detect diseases where, if not diagnosed and treated in the newborn period, the child will suffer significant trauma, disability or die. A few drops of blood from each baby's heel is put on a card and sent to the state's public health lab for testing. Most states…

  12. Legal and Ethical Considerations in Allowing Parental Exemptions From Newborn Critical Congenital Heart Disease (CCHD) Screening.

    PubMed

    Hom, Lisa A; Silber, Tomas J; Ennis-Durstine, Kathleen; Hilliard, Mary Anne; Martin, Gerard R

    2016-01-01

    Critical congenital heart disease (CCHD) screening is rapidly becoming the standard of care in the United States after being added to the Recommended Uniform Screening Panel (RUSP) in 2011. Newborn screens typically do not require affirmative parental consent. In fact, most states allow parents to exempt their baby from receiving the required screen on the basis of religious or personally held beliefs. There are many ethical considerations implicated with allowing parents to exempt their child from newborn screening for CCHD. Considerations include the treatment of religious exemptions in our current legal system, as well as medical and ethical principles in relation to the rights of infants. Although there are significant benefits to screening newborns for CCHD, when a parent refuses for religious or personal beliefs, in the case of CCHD screening, the parental decision should stand.

  13. Opportunities for Quality Improvement in Cystic Fibrosis Newborn Screening

    PubMed Central

    Groose, Molly K.; Reynolds, Richard; Li, Zhanhai; M.Farrell, Philip

    2010-01-01

    Background With the rapid implementation of cystic fibrosis (CF) newborn screening (NBS), quality improvement (QI) has become essential to identify and prevent errors. Using Process Failure Modes and Effects Analysis (PFMEA), we adapted this method to determine if it could be applied to discover and rank high priority QI opportunities. Methods Site visits to three programmes were conducted, and PFMEA exercises were accomplished in Colorado, Massachusetts and Wisconsin with 23 experienced professionals. During each of these comprehensive sessions, participants identified and ranked potential failures based on severity, occurrence and detection to calculate risk priority number (RPN) values. Results A total of 96 failure modes were generated and ranked in a list of the 20 riskiest problems that show no significant discordances by site, although there were differences by profession of the rater, particularly nurses. Conclusions Our results illustrate that the PFMEA method applies well to CF NBS and that steps requiring communication and information transfer are perceived to be the highest risks. The number of identified failure makes and their potential impact demonstrate considerable overall risk and a need for ongoing QI. PMID:20471332

  14. Mass spectrometry in clinical chemistry: the case of newborn screening.

    PubMed

    la Marca, Giancarlo

    2014-12-01

    Newborn screening (NBS) program is a complex and organized system consisting of family and personnel education, biochemical tests, confirmatory biochemical and genetic tests, diagnosis, therapy, and patient follow up. The program identifies treatable metabolic disorders possibly when asymptomatic by using dried blood spot (DBS). During the last 20 years tandem mass spectrometry (TMS) has become the leading technology in NBS programs demonstrating to be versatile, sensitive and specific. There is consistent evidence of benefits from NBS for many disorders detected by TMS as well as for congenital hypothyroidism, cystic fibrosis, congenital adrenal hyperplasia by immune-enzymatic methods. Real time PCR tests have more recently been proposed for the detection of some severe combined immunodeficiences (SCID) along with the use of TMS for ADA and PNP SCID; a first evaluation of their cost-benefit ratio is still ongoing. Avoiding false negative results by using specific biomarkers and reducing the false positive rate by using second tier tests, is fundamental for a successful NBS program. The fully integration of NBS and diagnostic laboratories with clinical service is crucial to have the best effectiveness in a comprehensive NBS system.

  15. History and Current Status of Newborn Screening for Severe Combined Immunodeficiency

    PubMed Central

    Kwan, Antonia; Puck, Jennifer M.

    2015-01-01

    The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots in universal newborn screening has allowed the early detection of T cell lymphopenia in newborns. Diagnosis of severe combined immunodeficiency (SCID) in affected infants in the neonatal period while asymptomatic permits early treatment and restoration of a functional immune system. SCID was the first immunodeficiency disease to be added to the Recommended Uniform Screening Panel of Core Conditions in the United States in 2010, and is now implemented in 26 states in the U.S. This review covers the development of newborn screening for SCID, the biology of the TREC test, its current implementation in the U.S., new findings for SCID in the newborn screening era, and future directions. PMID:25937517

  16. History and current status of newborn screening for severe combined immunodeficiency.

    PubMed

    Kwan, Antonia; Puck, Jennifer M

    2015-04-01

    The development of a T-cell receptor excision circle (TREC) assay utilizing dried blood spots in universal newborn screening has allowed the early detection of T-cell lymphopenia in newborns. Diagnosis of severe combined immunodeficiency (SCID) in affected infants in the neonatal period, while asymptomatic, permits early treatment and restoration of a functional immune system. SCID was the first immunodeficiency disease to be added to the Recommended Uniform Screening Panel of Core Conditions in the United States in 2010, and it is now implemented in 26 states in the U.S. This review covers the development of newborn screening for SCID, the biology of the TREC test, its current implementation in the U.S., new findings for SCID in the newborn screening era, and future directions.

  17. Galactosemia: when is it a newborn screening emergency?

    PubMed

    Berry, Gerard T

    2012-05-01

    Classic galactosemia is an autosomal recessive disorder of carbohydrate metabolism, due to a severe deficiency of the enzyme, galactose-1-phosphate uridyltransferase (GALT), that catalyzes the conversion of galactose-1-phosphate and uridine diphosphate glucose (UDPglucose) to uridine diphosphate galactose (UDPgalactose) and glucose-1-phosphate. Upon consumption of lactose in the neonatal period, the affected infants develop a potentially lethal disease process with multiorgan involvement. Since the advent of newborn screening (NBS) for galactosemia, we rarely encounter such overwhelmingly ill newborns. After ascertainment that the positive NBS indicates the possibility of galactosemia due to GALT deficiency, the critical question for the physician is whether the infant has the classic or a variant form of GALT deficiency, as classic galactosemia is a medical emergency. However, there are over 230 GALT gene mutations that have been detected around the world. Yet, most positive NBS tests are due to the Duarte biochemical variant condition or a simple false positive. In order to make the correct decision as well as provide informative counseling to parents of infants with a positive NBS, I utilize a relatively simple classification scheme for GALT deficiency. There are three basic forms of GALT deficiency: 1) classic galactosemia; 2) clinical variant galactosemia; and 3) biochemical variant galactosemia. The classic genotype is typified by Q188R/Q188R, the clinical variant by S135L/S135L and the biochemical variant by N314D/Q188R. In classic galactosemia, the erythrocyte GALT enzyme activity is absent or markedly reduced, the blood galactose and erythrocyte galactose-1-phosphate levels are markedly elevated, and the patient is at risk to develop potentially lethal E. coli sepsis, as well as the long-term diet-independent complications of galactosemia. Patients with the clinical variant form require treatment but do not die from E. coli sepsis in the neonatal period

  18. Development of a Newborn Screening Program for Critical Congenital Heart Disease (CCHD) in Taipei

    PubMed Central

    Chiang, Szu-Hui; Ho, Hui-Chen; Liu, Yu-Ling; Chung, Yuan-Fang; Lin, Li-Ju; Chen, Ming-Ren; Chang, Jia-Kan; Soong, Wen-Jue; Lin, Hsiu-Lian; Hwang, Betau; Hsiao, Kwang-Jen

    2016-01-01

    Background Early detection of critical congenital heart disease (CCHD) can significantly reduce morbidity and mortality among newborns. We investigate the feasibility of implementing a community-based newborn CCHD screening program in Taipei. Methods Twelve birthing facilities in Taipei participated in a trial screening program between October 1, 2013, and March 31, 2014. Newborns underwent pulse oximetry at 24–36 h old, with probes attached to the right hand and one lower limb. Any screening saturation ≥95% in either extremity, with an absolute difference of ≤3% between the right hand and foot, was accepted as a screening pass. A screening result was considered as a fail if the oxygen saturation was <95% at either probe site, on 3 separate occasions, each separated by 30 min or the first result was <95% at either probe site, and any subsequent oxygen saturation measurement was <90%. Public health nurses would follow up all missed or refused cases. Results Of the 6,387 live births, 6,296 newborns (coverage rate: 6,296/6,387 = 98.6%) underwent appropriate pulse oximetry screening. Sixteen newborns (0.25%) were reported to have a failed screening result. Five of these screen positive newborns were confirmed with CCHD; two of them were diagnosed solely attributed to the failed screening results. The false-positive rate was 0.18%. Implementing a 6-month screening program for CCHD produced good case detection rate, while using efficient screening and referral systems. Conclusion This program was successful in integrating screening, referral and public health tracking systems. The protocol outlined in this report could provide a community-based model for worldwide implementation. PMID:27073996

  19. Should we screen newborns for glucose-6-phosphate dehydrogenase deficiency in the United States?

    PubMed

    Watchko, J F; Kaplan, M; Stark, A R; Stevenson, D K; Bhutani, V K

    2013-07-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a common X-linked enzymopathy can lead to severe hyperbilirubinemia, acute bilirubin encephalopathy and kernicterus in the United States. Neonatal testing for G6PD deficiency is not yet routine and the American Academy of Pediatrics recommends testing only in jaundiced newborns who are receiving phototherapy whose family history, ethnicity, or geographic origin suggest risk for the condition, or for infants whose response to phototherapy is poor. Screening tests for G6PD deficiency are available, are suitable for use in newborns and have been used in birth hospitals. However, US birth hospitals experience is limited and no national consensus has emerged regarding the need for newborn G6PD testing, its effectiveness or the best approach. Our review of current state of G6PD deficiency screening highlights research gaps and informs specific operational challenges to implement universal newborn G6PD testing concurrent to bilirubin screening in the United States.

  20. Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.

    PubMed

    Koeberl, D D; Millington, D S; Smith, W E; Weavil, S D; Muenzer, J; McCandless, S E; Kishnani, P S; McDonald, M T; Chaing, S; Boney, A; Moore, E; Frazier, D M

    2003-01-01

    Since the addition of tandem mass spectrometry (MS/MS) to the North Carolina Newborn Screening Program, 20 infants with two consecutive elevated 3-hydroxyisovalerylcarnitine (C5OH) levels have been evaluated for evidence of inborn errors of metabolism associated with this metabolite. Ten of these 20 infants had significant concentrations of both 3-hydroxyisovaleric acid and 3-methylcrotonylglycine in their urine, suggestive of 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency. Four of these 10 were infants whose abnormal metabolites were found to be of maternal origin. Of 8 patients with probable 3-MCC deficiency, 7 have been tested and found to have the enzyme deficiency confirmed in lymphoblasts or cultured fibroblasts; one of these 7 infants had only marginally decreased 3-MCC activity in lymphocytes but deficient 3-MCC in fibroblasts. We estimate the incidence of 3-MCC deficiency at 1:64000 live births in North Carolina. We conclude that MS/MS newborn screening will detect additional inborn errors of metabolism, such as 3-MCC deficiency, not traditionally associated with newborn screening. The evaluation of newborns with two abnormally elevated C5OH levels on MS/MS newborn screening should include, at least, urine organic acid analysis by capillary GC-MS and a plasma acylcarnitine profile by MS/MS. Long-term follow-up is needed to determine the outcome of presymptomatically diagnosed patients with 3-MCC deficiency by MS/MS newborn screening.

  1. Screening for Critical Congenital Heart Disease in Newborns

    MedlinePlus

    ... critical congenital heart disease (CCHD) in newborns. 2 Physiology of Pulse Oximetry Oxygen breathed in through the ... Previous Article Next Article Jump to Article Introduction Physiology of Pulse Oximetry The Ductus Arteriosus in CCHD ...

  2. 21 CFR 862.1055 - Newborn screening test system for amino acids, free carnitine, and acylcarnitines using tandem...

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 21 Food and Drugs 8 2013-04-01 2013-04-01 false Newborn screening test system for amino acids... screening test system for amino acids, free carnitine, and acylcarnitines using tandem mass spectrometry. (a) Identification. A newborn screening test system for amino acids, free carnitine, and acylcarnitines using...

  3. 21 CFR 862.1055 - Newborn screening test system for amino acids, free carnitine, and acylcarnitines using tandem...

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 21 Food and Drugs 8 2014-04-01 2014-04-01 false Newborn screening test system for amino acids... screening test system for amino acids, free carnitine, and acylcarnitines using tandem mass spectrometry. (a) Identification. A newborn screening test system for amino acids, free carnitine, and acylcarnitines using...

  4. 21 CFR 862.1055 - Newborn screening test system for amino acids, free carnitine, and acylcarnitines using tandem...

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 8 2012-04-01 2012-04-01 false Newborn screening test system for amino acids... screening test system for amino acids, free carnitine, and acylcarnitines using tandem mass spectrometry. (a) Identification. A newborn screening test system for amino acids, free carnitine, and acylcarnitines using...

  5. Newborn Screening for Genetic-Metabolic Diseases: Progress, Principles and Recommendations.

    ERIC Educational Resources Information Center

    Holtzman, Neil A.

    This monograph, designed for persons involved in the organization and regulation of screening of newborns infants for Phenylketonuria (PKU) and other genetic-metabolic diseases reviews new developments in the field, makes recommendations, and provides information about specific conditions other than PKU that are detectable by screening. Discussed…

  6. Parents' Decisions to Screen Their Newborn for Fragile X Syndrome. FPG Snapshot #63

    ERIC Educational Resources Information Center

    FPG Child Development Institute, 2011

    2011-01-01

    State newborn screening (NBS) programs have expanded in recent years, and more tests may be added in the future. The expansion of neonatal screening raises ethical, legal, and social questions. The questions surrounding NBS for fragile X syndrome (FXS) typify these concerns. FXS is an X-linked genetic condition that is the most common inherited…

  7. Current Sickle Cell Screening Program for Newborns in New York City, 1979-1980.

    ERIC Educational Resources Information Center

    Grover, Ranjeet; And Others

    1983-01-01

    Screening tests indicated that 141 out of 106,565 infants examined in New York City during 1979-80, had various forms of sickle cell anemia. Follow-up of 131 patients confirmed the original diagnoses, suggesting that the New York City Follow-up Program for Sickle Cell Screening of newborns was successful. (Author/MJL)

  8. Factors which influence the rate of receiving a routine second newborn screening test in Washington State.

    PubMed

    Doyle, D L; Sanderson, M; Bentvelzen, J; Fineman, R M

    1995-12-04

    This study was conducted to determine whether newborns from different ethnic and socioeconomic groups in Washington State are equally likely to have a routine second newborn screening (NBS) test and if there are identifiable factors associated with not having a second test. For many years, the standard of care for NBS in Washington has been that newborns should receive a routine second screening test at age 7-10 days. However, data collected by State Department of Health (DOH) staff for the past several years indicated that only about 80% of newborns receive a routine second NBS test. The data presented here suggest that identifiable factors (i.e., barriers) exist in accessing a routine second NBS test in Washington. Increased educational efforts targeting certain high-risk infants, their parent/caretakers, and primary care providers are apparently needed to ensure equal access to a routine second test.

  9. Capillary electrophoresis and mass spectrometry for screening of metabolic disorders in newborns.

    PubMed

    Senk, Petr; Kozák, Libor; Foret, Frantisek

    2004-06-01

    Clinical analyses always represent a challenge for the sensitivity and selectivity of the analytical techniques. Of the most critical are the techniques required for the quick determination of the disease state and application of the proper treatment in newborns. This short critical review overviews the present state of the art of the use of mass spectrometry and capillary electrophoresis for screening of metabolic disorders in newborns.

  10. Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease.

    PubMed

    Kroll, Charles A; Ferber, Matt J; Dawson, Brian D; Jacobson, Robert M; Mensink, Kara A; Lorey, Fred; Sherwin, John; Cunningham, George; Rinaldo, Piero; Matern, Dietrich; Hahn, Si Houn

    2006-01-01

    Wilson disease is an autosomal recessive disorder of copper transport, caused by the reduced or absent function of the Wilson disease gene ATP7B on chromosome 13. The disease is characterized by reduced incorporation of copper into the ceruloplasmin protein and reduced excretion of copper into the bile. Wilson disease is effectively treated if detected early. Our study goals were to determine the feasibility of a population screening for Wilson disease using dried blood spots and to characterize the base-line ceruloplasmin concentration in newborn blood spots of patients with Wilson disease. Ceruloplasmin was analyzed in dried blood spots obtained from 353 Mayo Clinic pediatric volunteers aged from 3 months to 18 years and from 1045 anonymous newborn screening specimens using a sandwich enzyme-linked immunosorbent assay. The original newborn screening blood spots were retrieved from two patients with Wilson disease along with age-matched controls for ceruloplasmin determination. The mean (+/-SD) concentration of ceruloplasmin in the pediatric blood spots was 40.0+/-14.4 mg/dL (range 13.1 to >60 mg/dL) and newborn blood spots was 47.2+/-15.5mg/dL (range 6.5 to >60 mg/dL). Ceruloplasmin in the newborn blood spots from two Wilson disease patients were 2.6 and 2.8 mg/dL, respectively. The newborns affected with Wilson disease had significantly lower ceruloplasmin levels in blood spots than unaffected newborns. These findings support that presymptomatic screening for Wilson disease using dried blood spots could be possible, even in the newborn period.

  11. Genome-wide Linkage Screen in Familial Parkinson Disease Identifies Loci on Chromosomes 3 and 18

    PubMed Central

    Gao, Xiaoyi; Martin, Eden R.; Liu, Yutao; Mayhew, Gregory; Vance, Jeffery M.; Scott, William K.

    2009-01-01

    Parkinson disease (PD) is a complex, multifactorial neurodegenerative disease with substantial evidence for genetic risk factors. We conducted a genome-wide linkage screen of 5824 single-nucleotide polymorphisms in 278 families of European, non-Hispanic descent to localize regions that harbor susceptibility loci for PD. By using parametric and nonparametric linkage analyses and allowing for genetic heterogeneity among families, we found two loci for PD. Significant evidence for linkage was detected on chromosome 18q11 (maximum lod score [MLOD] = 4.1) and suggestive evidence for linkage was obtained on chromosome 3q25 (MLOD = 2.5). These results were strongest in families not previously screened for linkage, and simulation studies suggest that these findings are likely due to locus heterogeneity rather than random statistical error. The finding of two loci (one highly statistically significant) suggests that additional PD susceptibility genes might be identified through targeted candidate gene studies in these regions. PMID:19327735

  12. Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.

    PubMed

    Kemper, Alex R; Brosco, Jeffrey; Comeau, Anne Marie; Green, Nancy S; Grosse, Scott D; Jones, Elizabeth; Kwon, Jennifer M; Lam, Wendy K K; Ojodu, Jelili; Prosser, Lisa A; Tanksley, Susan

    2017-01-01

    The secretary of the US Department of Health and Human Services in February 2016 recommended that X-linked adrenoleukodystrophy (X-ALD) be added to the recommended uniform screening panel for state newborn screening programs. This decision was informed by data presented on the accuracy of screening from New York, the only state that currently offers X-ALD newborn screening, and published and unpublished data showing health benefits of earlier treatment (hematopoietic stem cell transplantation and adrenal hormone replacement therapy) for the childhood cerebral form of X-ALD. X-ALD newborn screening also identifies individuals with later-onset disease, but poor genotype-phenotype correlation makes predicting health outcomes difficult and might increase the risk of unnecessary treatment. Few data are available regarding the harms of screening and presymptomatic identification. Significant challenges exist for implementing comprehensive X-ALD newborn screening, including incorporation of the test, coordinating follow-up diagnostic and treatment care, and coordination of extended family testing after case identification.Genet Med 19 1, 121-126.

  13. Rapid implementation of pulse oximetry newborn screening to detect critical congenital heart defects - New Jersey, 2011.

    PubMed

    2013-04-19

    In August 2011, New Jersey implemented a statewide newborn screening protocol for critical congenital heart defects (CCHD) using pulse oximetry. In January 2012, CDC responded to a request from the New Jersey Department of Health (NJDOH) to assist with an assessment of the implementation. Out of the 52 birthing facilities in New Jersey, a sample of 11 was selected. Staff interviews were conducted to assess screening and data collection processes, data flow and tracking procedures, electronic medical record (EMR) capabilities, and capacity to report data to NJDOH. Feedback also was obtained about the questionnaire being used to follow-up on positive screening results. All 11 facilities were screening for CCHD. Among the 11 facilities, three were electronically entering and maintaining data into an EMR, five were manually entering and maintaining data into paper charts and logs, and three were both electronically and manually entering and maintaining data. Facilities reported that implementation of newly mandated CCHD screening posed a low burden to hospital staff members. NJDOH receives aggregate pulse oximetry screening data from all New Jersey birthing facilities. During the first 3 months of screening, preliminary data indicated that 98.2% of 25,214 newborns were screened. Hospitals reported data on 12 newborns with positive screening results; two newborns were newly diagnosed with CCHD as a result of pulse oximetry screening. Because of state-specific factors, such as out-of-state referral patterns, these findings might underestimate the anticipated number of positive screens in states with varying referral patterns and use of prenatal diagnosis. Rapid implementation of universal CCHD screening posed a relatively low burden to hospitals in New Jersey.

  14. Proceduralisation, choice and parental reflections on decisions to accept newborn bloodspot screening.

    PubMed

    Nicholls, Stuart G

    2012-05-01

    Newborn screening is the programme through which newborn babies are screened for a variety of conditions shortly after birth. Programmes such as this are individually oriented but resemble traditional public health programmes because they are targeted at large groups of the population and they are offered as preventive interventions to a population considered healthy. As such, an ethical tension exists between the goals of promoting the high uptake of supposedly 'effective' population-oriented programmes and the goal of promoting genuinely informed decision-making. There is, however, a lack of understanding with regard to how parents experience the tension between promoting uptake and facilitating informed choice. This paper addresses this issue, and data are presented to show how aspects of the timing, presentation of information and procedural routinisation of newborn screening serves to impact on the decisions made by parents.

  15. Efficient linking of birth certificate and newborn screening databases for laboratory investigation of congenital cytomegalovirus infection and preterm birth: Florida, 2008.

    PubMed

    DePasquale, John M; Freeman, Karen; Amin, Minal M; Park, Sohyun; Rivers, Samantha; Hopkins, Richard; Cannon, Michael J; Dy, Bonifacio; Dollard, Sheila C

    2012-02-01

    The objectives of this study are (1) to design an accurate method for linking newborn screening (NBS) and state birth certificate databases to create a de-identified study database; (2) To assess maternal cytomegalovirus (CMV) seroprevalence by measuring CMV IgG in newborn dried blood spots; (3) To assess congenital CMV infection among newborns and possible association with preterm birth. NBS and birth databases were linked and patient records were de-identified. A stratified random sample of records based on gestational age was selected and used to retrieve blood spots from the state NBS laboratory. Serum containing maternal antibodies was eluted from blood spots and tested for the presence of CMV IgG. DNA was extracted from blood spots and tested for the presence of CMV DNA. Analyses were performed with bivariable and multivariable logistic regression models. Linkage rates and specimen collection exceeded 98% of the total possible yielding a final database with 3,101 newborn blood spots. CMV seroprevalence was 91% among Black mothers, 83% among Hispanic mothers, 59% among White mothers, and decreased with increasing amounts of education. The prevalence of CMV infection in newborns was 0.45% and did not vary significantly by gestational age. Successful methods for database linkage, newborn blood spots collection, and de-identification of records can serve as a model for future congenital exposure surveillance projects. Maternal CMV seroprevalence was strongly associated with race/ethnicity and educational level. Congenital CMV infection rates were lower than those reported by other studies and lacked statistical power to examine associations with preterm birth.

  16. A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening

    PubMed Central

    Park, Kyoung-Jin; Park, Seungman; Lee, Eunhee; Park, Jong-Ho; Park, June-Hee; Park, Hyung-Doo; Lee, Soo-Youn

    2016-01-01

    Background A newborn screening (NBS) program has been utilized to detect asymptomatic newborns with inherited metabolic diseases (IMDs). There have been some bottlenecks such as false-positives and imprecision in the current NBS tests. To overcome these issues, we developed a multigene panel for IMD testing and investigated the utility of our integrated screening model in a routine NBS environment. We also evaluated the genetic epidemiologic characteristics of IMDs in a Korean population. Methods In total, 269 dried blood spots with positive results from current NBS tests were collected from 120,700 consecutive newborns. We screened 97 genes related to NBS in Korea and detected IMDs, using an integrated screening model based on biochemical tests and next-generation sequencing (NGS) called NewbornSeq. Haplotype analysis was conducted to detect founder effects. Results The overall positive rate of IMDs was 20%. We identified 10 additional newborns with preventable IMDs that would not have been detected prior to the implementation of our NGS-based platform NewbornSeq. The incidence of IMDs was approximately 1 in 2,235 births. Haplotype analysis demonstrated founder effects in p.Y138X in DUOXA2, p.R885Q in DUOX2, p.Y439C in PCCB, p.R285Pfs*2 in SLC25A13, and p.R224Q in GALT. Conclusions Through a population-based study in the NBS environment, we highlight the screening and epidemiological implications of NGS. The integrated screening model will effectively contribute to public health by enabling faster and more accurate IMD detection through NBS. This study suggested founder mutations as an explanation for recurrent IMD-causing mutations in the Korean population. PMID:27578510

  17. Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis

    PubMed Central

    Hendrix, Miyono M.; Foster, Stephanie L.; Cordovado, Suzanne K.

    2016-01-01

    All newborn screening laboratories in the United States and many worldwide screen for cystic fibrosis. Most laboratories use a second-tier genotyping assay to identify a panel of mutations in the CF transmembrane regulator (CFTR) gene. Centers for Disease Control and Prevention’s Newborn Screening Quality Assurance Program houses a dried blood spot repository of samples containing CFTR mutations to assist newborn screening laboratories and ensure high-quality mutation detection in a high-throughput environment. Recently, CFTR mutation detection has increased in complexity with expanded genotyping panels and gene sequencing. To accommodate the growing quality assurance needs, the repository samples were characterized with several multiplex genotyping methods, Sanger sequencing, and 3 next-generation sequencing assays using a high-throughput, low-concentration DNA extraction method. The samples performed well in all of the assays, providing newborn screening laboratories with a resource for complex CFTR mutation detection and next-generation sequencing as they transition to new methods. PMID:28261631

  18. Evaluating Harms in the Assessment of Net Benefit: A Framework for Newborn Screening Condition Review

    PubMed Central

    Goldenberg, Aaron J.; Comeau, Anne Marie; Grosse, Scott D.; Tanksley, Susan; Prosser, Lisa A.; Ojodu, Jelili; Botkin, Jeffrey R.; Kemper, Alex R.; Green, Nancy S.

    2016-01-01

    Background The Department of Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (“Advisory Committee”) makes recommendations to the HHS Secretary regarding addition of new conditions to the national Recommended Uniform Screening Panel for newborns. The Advisory Committee’s decision-making process includes assessing the net benefit of screening for nominated conditions, informed by systematic evidence reviews generated by an independent Condition Review Workgroup. The evidence base regarding harms associated with screening for specific conditions is often more limited than that for benefits. Procedures The process for defining potential harms from newborn screening reviewed the frameworks from other public health evidence-based review processes, adapted to newborn screening by experts in systematic review, newborn screening programs and bioethics, with input from and approval by the Advisory Committee. Main findings To support the Advisory Committee’s review of nominated conditions, the Workgroup has developed a standardized approach to evaluation of harms and relevant gaps in the evidence. Types of harms include the physical burden to infants; psychosocial and logistic burdens to families from screening or diagnostic evaluation; increased risk of medical treatment for infants diagnosed earlier than children with clinical presentation; delayed diagnosis from false negative results; psychosocial harm from false positive results; uncertainty of clinical diagnosis, age of onset or clinical spectrum; and disparities in access to diagnosis or therapy. Conclusions Estimating the numbers of children at risk, the magnitude, timing and likelihood of harms will be integrated into Workgroup reports to the Advisory Committee. PMID:26833040

  19. Web-Based Newborn Screening System for Metabolic Diseases: Machine Learning Versus Clinicians

    PubMed Central

    Chen, Wei-Hsin; Hsu, Kai-Ping; Chen, Han-Ping; Su, Xing-Yu; Tseng, Yi-Ju; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lai, Feipei

    2013-01-01

    Background A hospital information system (HIS) that integrates screening data and interpretation of the data is routinely requested by hospitals and parents. However, the accuracy of disease classification may be low because of the disease characteristics and the analytes used for classification. Objective The objective of this study is to describe a system that enhanced the neonatal screening system of the Newborn Screening Center at the National Taiwan University Hospital. The system was designed and deployed according to a service-oriented architecture (SOA) framework under the Web services .NET environment. The system consists of sample collection, testing, diagnosis, evaluation, treatment, and follow-up services among collaborating hospitals. To improve the accuracy of newborn screening, machine learning and optimal feature selection mechanisms were investigated for screening newborns for inborn errors of metabolism. Methods The framework of the Newborn Screening Hospital Information System (NSHIS) used the embedded Health Level Seven (HL7) standards for data exchanges among heterogeneous platforms integrated by Web services in the C# language. In this study, machine learning classification was used to predict phenylketonuria (PKU), hypermethioninemia, and 3-methylcrotonyl-CoA-carboxylase (3-MCC) deficiency. The classification methods used 347,312 newborn dried blood samples collected at the Center between 2006 and 2011. Of these, 220 newborns had values over the diagnostic cutoffs (positive cases) and 1557 had values that were over the screening cutoffs but did not meet the diagnostic cutoffs (suspected cases). The original 35 analytes and the manifested features were ranked based on F score, then combinations of the top 20 ranked features were selected as input features to support vector machine (SVM) classifiers to obtain optimal feature sets. These feature sets were tested using 5-fold cross-validation and optimal models were generated. The datasets

  20. The case for newborn screening for severe combined immunodeficiency and related disorders

    PubMed Central

    Puck, Jennifer M.

    2015-01-01

    Early detection of primary immunodeficiency is recognized as important for avoiding infectious complications that compromise outcomes. In particular, severe combined immunodeficiency (SCID) is fatal in infancy unless affected infants can be diagnosed before the onset of devastating infections and provided with an immune system through allogenic hematopoietic cell transplantation, enzyme replacement, or gene therapy. A biomarker of normal T cell development, T cell receptor excision circles (TRECs), can be measured in DNA isolated from the dried blood spots routinely obtained for newborn screening; infants identified as lacking TRECs can thus receive confirmatory testing and prompt intervention. Early results of TREC testing of newborns in five states indicate that this addition to the newborn screening panel can be successfully integrated into state public health programs. A variety of cases with typical SCID genotypes and other T lymphocytopenic conditions have been detected in a timely manner and referred for appropriate early treatment. PMID:22236435

  1. The case for newborn screening for severe combined immunodeficiency and related disorders.

    PubMed

    Puck, Jennifer M

    2011-12-01

    Early detection of primary immunodeficiency is recognized as important for avoiding infectious complications that compromise outcomes. In particular, severe combined immunodeficiency (SCID) is fatal in infancy unless affected infants can be diagnosed before the onset of devastating infections and provided with an immune system through allogenic hematopoietic cell transplantation, enzyme replacement, or gene therapy. A biomarker of normal T cell development, T cell receptor excision circles (TRECs), can be measured in DNA isolated from the dried blood spots routinely obtained for newborn screening; infants identified as lacking TRECs can thus receive confirmatory testing and prompt intervention. Early results of TREC testing of newborns in five states indicate that this addition to the newborn screening panel can be successfully integrated into state public health programs. A variety of cases with typical SCID genotypes and other T lymphocytopenic conditions have been detected in a timely manner and referred for appropriate early treatment.

  2. Neuropsychological Outcomes in Fatty Acid Oxidation Disorders: 85 Cases Detected by Newborn Screening

    PubMed Central

    Waisbren, Susan E.; Landau, Yuval; Wilson, Jenna; Vockley, Jerry

    2014-01-01

    Mitochondrial fatty acid oxidation disorders include conditions in which the transport of activated acyl-Coenzyme A (CoA) into the mitochondria or utilization of these substrates is disrupted or blocked. This results in a deficit in the conversion of fat into energy. Most patients with fatty acid oxidation defects are now identified through newborn screening by tandem mass spectrometry. With earlier identification and preventative treatments, mortality and morbidity rates have improved. However, in the absence of severe health and neurological effects from these disorders, subtle developmental delays or neuropsychological deficits have been noted. Medical records were reviewed to identify outcomes in 85 children with FAOD’s diagnosed through newborn screening and followed at one metabolic center. Overall, 54% of these children identified through newborn screening experienced developmental challenges. Speech delay or relative weakness in language was noted in 26 children (31%) and motor delays were noted in 24 children (29%). The majority of the 46 children receiving psychological evaluations performed well within the average range, with only 11% scoring <85 on developmental or intelligence tests. These results highlight the importance of screening children with fatty acid oxidation disorders to identify those with language, motor, or cognitive delay. Although expanded newborn screening dramatically changes the health and developmental outcomes in many children with fatty acid oxidation disorders, it also complicates the interpretation of biochemical and molecular findings and raises questions about the effectiveness or necessity of treatment in a large number of cases. Only by systematically evaluating developmental and neuropsychological outcomes using standardized methods will the true implications of newborn screening, laboratory results, and treatments for neurocognitive outcome in these disorders become clear. PMID:23798014

  3. Newborn screening for cystic fibrosis in Alberta: Two years of experience

    PubMed Central

    Lilley, Margaret; Christian, Susan; Hume, Stacey; Scott, Patrick; Montgomery, Mark; Semple, Lisa; Zuberbuhler, Peter; Tabak, Joan; Bamforth, Fiona; Somerville, Martin J

    2010-01-01

    On April 1, 2007, Alberta became the first province in Canada to introduce cystic fibrosis (CF) to its newborn screening program. The Alberta protocol involves a two-tier algorithm involving an immunoreactive trypsinogen measurement followed by molecular analysis using a CF panel for 39 mutations. Positive screens are followed up with sweat chloride testing and an assessment by a CF specialist. Of the 99,408 newborns screened in Alberta during the first two years of the program, 221 had a positive CF newborn screen. The program subsequently identified and initiated treatment in 31 newborns with CF. A relatively high frequency of the R117H mutation and the M1101K mutation was noted. The M1101K mutation is common in the Hutterite population. The presence of the R117H mutation has created both counselling and management dilemmas. The ability to offer CF transmembrane regulator full sequencing may help resolve diagnostic dilemmas. Counselling and management challenges are created when mutations are mild or of unknown clinical significance. PMID:22043142

  4. Levels of Evidence: Universal Newborn Hearing Screening (UNHS) and Early Hearing Detection and Intervention Systems (EHDI)

    ERIC Educational Resources Information Center

    Yoshinaga-Itano, Christine

    2004-01-01

    Levels of evidence differ according to the audience addressed. Implementation of universal newborn hearing screening requires responses to a complex myriad of diverse groups: the general public, families with children who are deaf or hard of hearing, the deaf and hard of hearing communities, hospital administrators, physicians (pediatricians,…

  5. Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapy.

    PubMed

    Amir, Ruthie E; Sutton, V Reid; Van den Veyver, Ignatia B

    2005-09-01

    Most girls with Rett syndrome develop normally prior to the appearance of the typical symptoms. A presymptomatic phase is also observed in many inborn errors of metabolism that are included in newborn screening programs. Diagnostic testing for mutations or large genomic rearrangements involving methyl-CpG binding protein 2 gene (MECP2) is highly sensitive and identifies mutations in up to 95% of female individuals with classic Rett syndrome. This has prompted some to ask whether MECP2 testing should be included in newborn and prenatal screening programs. We review current and evolving practices in these programs, emphasizing their relevance to Rett syndrome. The availability of a reliable test and the characteristic early latent phase, which creates a window of opportunity for early treatment, favor universal newborn screening for Rett syndrome. However, the high cost and the lack of an effective presymptomatic treatment make universal newborn screening for Rett syndrome impractical at present. In contrast, prenatal diagnosis should be offered to the parents of an affected child if the responsible mutation has been identified in the index case.

  6. A conceptual framework for rationalized and standardized Universal Newborn Hearing Screening (UNHS) programs.

    PubMed

    Leo, Carlo Giacomo; Mincarone, Pierpaolo; Sabina, Saverio; Latini, Giuseppe; Wong, John B

    2016-02-12

    Congenital hearing loss is the most frequent birth defect. The American Academy of Pediatrics and the Joint Committee on Infant Hearing established quality of care process indicators for Universal Newborn Hearing Screening starting from 1999. In a previous systematic review of Universal Newborn Hearing Screening studies we highlighted substantial variability in program design and in reported performance data. In order to overcome these heterogeneous findings we think it is necessary to optimize the implementation of Universal Newborn Hearing Screening programs with an appropriate application of the planning, executing, and monitoring, verifications and reporting phases. For this reason we propose a conceptual framework that logically integrates these three phases and, consequently, a tool (a check-list) for their rationalization and standardization.Our paper intends to stimulate debate on how to ameliorate the routine application of high quality Universal Newborn Hearing Screening programs. The conceptual framework is proposed to optimize, rationalise and standardise their implementation. The checklist is intended to allow an inter-program comparison by removing heterogeneity in processes description and assessment.

  7. [Reproductive decisions and newborn screening: the perspective of female caregivers of children with sickle cell disease].

    PubMed

    Guedes, Cristiano

    2012-09-01

    One of the goals of the Brazilian Newborn Screening Program created in 2001 was to inform couples with the possibility of having children with sickle cell diseases regarding reproductive decision-making. This article presents the reproductive choices and analyzes the notion of biomedical reproductive risk of female caregivers of children with sickle cell disease participating in a newborn screening program. Qualitative data collected between 2006 and 2008 was based on interviews with 50 female caregivers of children with sickle cell disease participating on the Federal District Newborn Screening Program. The research revealed the following perceptions underlying reproductive decisions: women who want to have other children even with the risk of recurrence of the disease; women who do not want to have any more children; and women whose reproductive plans are still being considered on the basis of the information provided by the newborn screening program. The study revealed that women's reproductive choices are based on the experience of child care and self care. The notion of reproductive risk is built in order to strengthen women's decisions together with their family and other social groups to which they belong.

  8. The Role of National Library of Medicine[R] Web Sites in Newborn Screening Education

    ERIC Educational Resources Information Center

    Fomous, Cathy; Miller, Naomi

    2006-01-01

    Expanded newborn screening programs and subsequent detection of rare genetic disorders challenge parents and their medical providers to learn about the treatment and management of these disorders. Many people seek medical information on the Internet but may encounter requests for registration or fees, or find that resources are out of date,…

  9. Making the Case for Objective Performance Metrics in Newborn Screening by Tandem Mass Spectrometry

    ERIC Educational Resources Information Center

    Rinaldo, Piero; Zafari, Saba; Tortorelli, Silvia; Matern, Dietrich

    2006-01-01

    The expansion of newborn screening programs to include multiplex testing by tandem mass spectrometry requires understanding and close monitoring of performance metrics. This is not done consistently because of lack of defined targets, and interlaboratory comparison is almost nonexistent. Between July 2004 and April 2006 (N = 176,185 cases), the…

  10. The Regional Genetic and Newborn Screening Service Collaboratives: The First Two Years

    ERIC Educational Resources Information Center

    Puryear, Michele; Weissman, Gloria; Watson, Michael; Mann, Marie; Strickland, Bonnie; van Dyck, Peter C.

    2006-01-01

    Newborn screening and genetic technologies are expanding and changing rapidly, increasing the demand for genetic specialty services. Because of the scarcity and geographic maldistribution of genetic specialty services, access to these services is a critical issue. This article discusses some of the efforts initiated by the Maternal and Child…

  11. The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry.

    PubMed

    la Marca, Giancarlo; Giocaliere, Elisa; Malvagia, Sabrina; Funghini, Silvia; Ombrone, Daniela; Della Bona, Maria Luisa; Canessa, Clementina; Lippi, Francesca; Romano, Francesca; Guerrini, Renzo; Resti, Massimo; Azzari, Chiara

    2014-01-01

    Severe combined immunodeficiency due to adenosine-deaminase defect (ADA-SCID) is usually deadly in childhood because of severe recurrent infections. When clinical diagnosis is done, permanent damages due to infections or metabolite accumulation are often present. Gene therapy, bone marrow transplantation or enzyme replacement therapy may be effective if started early. The aim of this study was to set-up a robust method suitable for screening with a minimized preparation process and with inexpensive running costs, for diagnosing ADA-SCID by tandem mass spectrometry. ADA-SCID satisfies all the criteria for inclusion in a newborn screening program. We describe a protocol revised to incorporate adenosine and 2-deoxyadenosine testing into an expanded newborn screening program. We assessed the effectiveness of this approach testing dried blood spots from 4 genetically confirmed early-onset and 5 delayed-onset ADA-SCID patients. Reference values were established on 50,000 healthy newborns (deoxyadenosine <0.09μmol/L, adenosine <1.61μmol/L). We also developed a second tier test to distinguish true positives from false positives and improve the positive predictive value of an initial abnormal result. In the first 18 months, the pilot project has identified a newborn with a genetically confirmed defect in adenosine deaminase (ADA) gene. The results show that the method having great simplicity, low cost and low process preparations can be fully applicable to a mass screening program.

  12. The Impact of the National Newborn Hearing Screening Programme on Educational Services in England

    ERIC Educational Resources Information Center

    McCracken, Wendy; Young, Alys; Tattersall, Helen; Uus, Kai; Bamford, John

    2005-01-01

    This article presents results related to the impact on educational support services of the introduction of the first phase of the national Newborn Hearing Screening Programme (NHSP) in England. This study was funded by the Department of Health and undertaken as one element of a national evaluation of NHSP across a range of domains. It presents…

  13. Medical swab touch spray-mass spectrometry for newborn screening of nicotine and cotinine in meconium.

    PubMed

    Yang, Bi-Cheng; Wang, Feng; Yang, Xiao; Zou, Wei; Wang, Jia-Chun; Zou, Yang; Liu, Fa-Ying; Liu, Huai; Huang, Ou-Ping

    2016-12-01

    Newborn screening is one of public health concerns designed to screen infants shortly after birth. Prenatal exposure to tobacco smoke such as nicotine has been reported to affect babies. Levels of nicotine and cotinine in meconium were widely used to evaluate the tobacco exposure of foetuses during pregnancy in a polluted environment. In this study, medical swabs were applied by using touch spray-mass spectrometry (TS-MS) to collect meconium from newborn infants for detection of nicotine and cotinine. Parameters such as choice of spray solvents, solvent volume and collision energy for screening of nicotine and cotinine were optimized. The limits of detection, reproducibility and matrix effect for analysis of meconium were also investigated. In this study, the levels of nicotine and cotinine in 54 puerpera volunteers were screened by TS-MS and were validated by using traditional liquid chromatography-mass spectrometry. These results showed that medical swab TS-MS would be useful for newborn screening of nicotine and cotinine in meconium with high reproducibility, speed, sensitivity and specificity. The use of disposable medical swabs involves no sample preparation and no chromatographic separation, significantly reducing the cost and time required for screening a large number of clinical sample. Copyright © 2016 John Wiley & Sons, Ltd.

  14. Screening for seemingly healthy newborns with congenital cytomegalovirus infection by quantitative real-time polymerase chain reaction using newborn urine: an observational study

    PubMed Central

    Yamaguchi, Akira; Oh-ishi, Tsutomu; Arai, Takashi; Sakata, Hideaki; Adachi, Nodoka; Asanuma, Satoshi; Oguma, Eiji; Kimoto, Hirofumi; Matsumoto, Jiro; Fujita, Hidetoshi; Uesato, Tadashi; Fujita, Jutaro; Shirato, Ken; Ohno, Hideki; Kizaki, Takako

    2017-01-01

    Objective Approximately 8–10% of newborns with asymptomatic congenital cytomegalovirus (cCMV) infection develop sensorineural hearing loss (SNHL). However, the relationship between CMV load, SNHL and central nervous system (CNS) damage in cCMV infection remains unclear. This study aimed to examine the relationship between urinary CMV load, SNHL and CNS damage in newborns with cCMV infection. Study design The study included 23 368 newborns from two maternity hospitals in Saitama Prefecture, Japan. Urine screening for cCMV infection (quantitative real-time PCR) and newborn hearing screening (automated auditory brainstem response (AABR) testing) were conducted within 5 days of birth to examine the incidence of cCMV infection and SNHL, respectively. CNS damage was assessed by MRI of cCMV-infected newborns. Results The incidence of cCMV infection was 60/23 368 (0.257%; 95% CI 0.192% to 0.322%). The geometric mean urinary CMV DNA copy number in newborns with cCMV was 1.79×106 copies/mL (95% CI 7.97×105 to 4.02×106). AABR testing revealed abnormalities in 171 of the 22 229 (0.769%) newborns whose parents approved hearing screening. Of these 171 newborns, 22 had SNHL (12.9%), and 5 of these 22 were infected with cCMV (22.7%). Newborns with both cCMV and SNHL had a higher urinary CMV DNA copy number than newborns with cCMV without SNHL (p=0.036). MRI revealed CNS damage, including white matter abnormalities, in 83.0% of newborns with cCMV. Moreover, newborns with CNS damage had a significantly greater urinary CMV load than newborns without CNS damage (p=0.013). Conclusions We determined the incidence of cCMV infection and urinary CMV DNA copy number in seemingly healthy newborns from two hospitals in Saitama Prefecture. SNHL and CNS damage were associated with urinary CMV DNA copy number. Quantification of urinary CMV load may effectively predict the incidence of late-onset SNHL and neurodevelopmental disorders. PMID:28110288

  15. Newborn Screening (NBS): Answers to Frequently Asked Questions

    MedlinePlus

    ... The hearing screen is done using a special machine, often while your baby is asleep. But we ... doctors will ask for blood and possibly urine samples to do special testing for the condition of ...

  16. Newborn screening for sickle cell disease in Jamaica: logistics and experience with umbilical cord samples.

    PubMed

    Serjeant, G R; Serjeant, B E; Mason, K P; Gardner, R; Warren, L; Gibson, F; Coombs, M

    2017-01-01

    The study aims to describe the logistics and results of a programme for newborn screening for sickle cell disease based on samples from the umbilical cord. Samples were dried on Guthrie cards and analysed by high pressure liquid chromatography. All suspected clinically significant abnormal genotypes were confirmed by age 4-6 weeks with family studies and then recruited to local sickle cell clinics. The programme has screened 66,833 samples with the sickle cell trait in 9.8 % and the HbC trait in 3.8 %. Sickle cell syndromes occurred in 407 babies (204 SS, 148 SC, 35 Sbeta(+) thalassaemia, 6 Sbeta(o) thalassaemia, 6 sickle cell-variants, 8 sickle cell-hereditary persistence of fetal haemoglobin) and HbC syndromes in 42 (22 CC, 14 Cbeta(+) thalassaemia, 1 Cbeta(o) thalassaemia, 5 HbC- hereditary persistence of fetal haemoglobin). Focusing on the year 2015, screening was performed in 15,408, compliance with sample collection was 98.1 %, and maternal contamination occurred in 335 (2.6 %) but in only 0.05 % did diagnostic confusion require patient recall and further tests. This model of newborn screening for sickle cell disease is accurate, robust and economic. It is hoped that it may be helpful for other societies with high prevalence of abnormal haemoglobins and limited resources, who are planning to embark on newborn screening for sickle cell disease.

  17. First Colombian Multicentric Newborn Screening for Congenital Toxoplasmosis

    PubMed Central

    Gómez-Marin, Jorge Enrique; de-la-Torre, Alejandra; Angel-Muller, Edith; Rubio, Jorge; Arenas, Jaime; Osorio, Elkin; Nuñez, Lilian; Pinzon, Lyda; Mendez-Cordoba, Luis Carlos; Bustos, Agustin; de-la-Hoz, Isabel; Silva, Pedro; Beltran, Monica; Chacon, Leonor; Marrugo, Martha; Manjarres, Cristina; Baquero, Hernando; Lora, Fabiana; Torres, Elizabeth; Zuluaga, Oscar Elias; Estrada, Monica; Moscote, Lacides; Silva, Myriam Teresa; Rivera, Raul; Molina, Angie; Najera, Shirley; Sanabria, Antonio; Ramirez, Maria Luisa; Alarcon, Claudia; Restrepo, Natalia; Falla, Alejandra; Rodriguez, Tailandia; Castaño, Giovanny

    2011-01-01

    Aims To determine the incidence of congenital toxoplasmosis in Colombian newborns from 19 hospital or maternal child health services from seven different cities of five natural geographic regions (Caribbean, Central, Andean, Amazonia and Eastern). Materials and Methods We collected 15,333 samples from umbilical cord blood between the period of March 2009 to May 2010 in 19 different hospitals and maternal-child health services from seven different cities. We applied an IgM ELISA assay (Vircell, Spain) to determine the frequency of IgM anti Toxoplasma. The results in blood cord samples were confirmed either by western blot and repeated ELISA IgM assay. In a sub-sample of 1,613 children that were negative by the anti-Toxoplasma IgM assay, the frequency of specific anti-Toxoplasma IgA by the ISAGA assay was determined. All children with positive samples by IgM, IgA, clinical diagnosis or treatment during pregnancy were recalled for confirmatory tests after day 10 of life. Results 61 positive samples for specific IgM (0.39%) and 9 positives for IgA (0.5%) were found. 143 questionnaires were positive for a clinical diagnosis or treatment for toxoplasmosis during pregnancy. 109 out of the 218 children that had some of the criteria for postnatal confirmatory tests were followed. Congenital toxoplasmosis infection was confirmed in 15 children: 7 were symptomatic, and three of them died before the first month of life (20% of lethality). A significant correlation was found between a high incidence of markers for congenital toxoplasmosis and higher mean annual rainfall for the city. Conclusions Incidence for congenital toxoplasmosis is significantly different between hospitals or maternal child health services from different cities in Colombia. Mean annual rainfall was correlated with incidence of congenital toxoplasmosis. PMID:21655304

  18. The Screening of Hereditary Metabolic Defects Among Newborn Infants

    PubMed Central

    Hsia, David Yi-Yung

    1966-01-01

    The present communciation describes the use of four approaches to the detection of hereditary metabolic disorders: (1) the bacterial inhibition assay, (2) the reduction of nicotinamide adenine dinucleotide phosphate (NADP), (3) the use of paper chromatography, and (4) other specific methods. Using small quantities of capillary blood or urine, practical and simple methods have been devised for the diagnosis of 30 inborn errors of metabolism through screening programs. PMID:4380501

  19. Infrastructure and Educational Needs of Newborn Screening Short-Term Follow-Up Programs within the Southeast Regional Newborn Screening & Genetics Collaborative: A Pilot Survey.

    PubMed

    Bellcross, Cecelia A; Harmond, Lokie; Floyd-Browning, Phaidra; Singh, Rani

    2015-10-15

    Newborn screening (NBS) follow-up protocols vary significantly by state, and there is a need to better understand the infrastructure and communication flow of NBS programs. In addition, assessment of the educational needs of families and providers with regard to the implications of NBS results is required to inform the development of appropriate informational resources and training opportunities. To begin to address these issues, we administered a web-based survey to state NBS coordinators within the Southeast Regional Newborn Screening & Genetics Collaborative (SERC). Fourteen coordinators responded to the survey, including at least one from each of the 10 SERC states/territories. Over one-third of respondents had never received formal training regarding the metabolic conditions identified on NBS. Most communicated results via telephone or fax, though two centers indicated use of a web-based platform. Only two programs were involved in directly reporting results to the family. Four programs reported a long-term follow-up protocol. Deficits were noted for primary care provider (PCP) knowledge of metabolic disorders identified on NBS, and how to inform parents of abnormal results. Close to half indicated that the adequacy of the number of genetic counselors, dietitians, and medical/biochemical geneticists was minimal to insufficient. Respondents uniformly recognized the importance of providing additional educational and informational resources in multiple categories to NBS staff, PCPs, and families.

  20. Fifty years of phenylketonuria newborn screening - A great success for many, but what about the rest?

    PubMed

    Groselj, Urh; Tansek, Mojca Zerjav; Battelino, Tadej

    2014-01-01

    Guthrie's landmark discovery and the subsequent implementation of the first newborn screening programs for phenylketonuria (PKU) and other inherited errors of metabolism (IEM) could be - in a 50 year retrospective - easily considered among the greatest advances in medicine. They have not just improved the quality of hundreds of thousands of lives, but also transformed our understanding and approach to PKU and IEM in general. However, according to the available albeit very scarce data, many countries and regions seem not to share the benefits of the last 50 years of development. Many of them have not yet introduced the newborn screening for PKU or face significant problems in its implementation. In addition, the issue seems to be underrated by the relevant professional forums. Action to improve the current situation should urgently be taken.

  1. Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.

    PubMed

    2012-04-06

    Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. Under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) regulations, laboratory testing is categorized on the basis of the level of testing complexity as either waived (i.e., from routine regulatory oversight) or nonwaived testing (which includes tests of moderate and high complexity). Laboratories that perform biochemical genetic testing are required by CLIA regulations to meet the general quality systems requirements for nonwaived testing and the personnel requirements for high-complexity testing. Laboratories that perform public health newborn screening are subject to the same CLIA regulations and applicable state requirements. As the number of inherited metabolic diseases that are included in state-based newborn screening programs continues to increase, ensuring the quality of performance and delivery of testing services remains a continuous challenge not only for public health laboratories and other newborn screening facilities but also for biochemical genetic testing laboratories. To help ensure the quality of laboratory testing, CDC collaborated with the Centers for Medicare & Medicaid Services, the Food and Drug Administration, the Health Resources and Services Administration, and the National Institutes of Health to develop guidelines for laboratories to meet CLIA requirements and apply additional quality assurance measures for these areas of genetic testing. This report provides recommendations for good laboratory practices that were developed based on recommendations from the Clinical Laboratory Improvement Advisory Committee, with additional input from the Secretary's Advisory Committee on Genetics, Health, and Society; the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; and representatives of newborn

  2. Defining the Newborn Blood Spot Screening Reference Interval for TSH: Impact of Ethnicity

    PubMed Central

    Brooke, Ivan; Heales, Simon; Ifederu, Adeboye; Langham, Shirley; Hindmarsh, Peter; Cole, Tim J.

    2016-01-01

    Context: There is variability in the congenital hypothyroidism (CH) newborn screening TSH cutoff across the United Kingdom. Objective: To determine the influences of year, gender, and ethnicity on screening variability and examine whether there is an optimal operational TSH cutoff. Design and Setting: Single center, retrospective population study using blood spot TSH cards received by the Great Ormond Street Hospital Screening Laboratory between 2006 and 2012. Patients: A total of 824 588 newborn screening blood spot TSH cards. Intervention: Blood spot TSH results were recorded with demographic data including the Ethnic Category Code. Main Outcome Measures: The proportions of samples exceeding different TSH cutoffs, ranked by ethnicity. Results: The proportion of samples exceeding the TSH cutoff increased over time, with the cutoff at 4 mU/L, but not at 6 mU/L. There was a consistent trend with ethnicity, irrespective of cutoff, with the odds ratio of exceeding the TSH cutoff lowest (∼1.0) in White babies, higher in Pakistani and Bangladeshi (>2.0), and highest in Chinese (>3.5). Conclusions: The blood spot TSH screening data demonstrate a clear ranking according to ethnicity for differences in mean TSH. This suggests that there may be ethnic differences in thyroid physiology. Ethnic diversity within populations needs to be considered when establishing and interpreting screening TSH cutoffs. PMID:27399348

  3. The case for mandatory newborn screening for severe combined immunodeficiency (SCID).

    PubMed

    Gaspar, H B; Hammarström, L; Mahlaoui, N; Borte, M; Borte, S

    2014-05-01

    Severe combined immunodeficiency (SCID) is the most severe form of inherited primary immunodeficiency and is a paediatric emergency. Delay in recognising and detecting SCID can have fatal consequences and also reduces the chances of a successful haematopoietic stem cell transplant (HSCT). Screening for SCID at birth would prevent children from dying before HSCT can be attempted and would increase the success of HSCT. There is strong evidence to show that SCID fulfills the internationally-established criteria for a condition to be screened for at birth. There is also a test (the T-cell receptor excision circle (TREC) assay) that is now being successfully used in an increasing number of US states to screen for SCID in routine newborn Guthrie samples. Concerted lobbying efforts have highlighted the need for newborn screening (NBS) for SCID, and its implementation is being discussed in Europe both at EU and individual country level, but as yet there is no global mandate to screen for this rare and frequently lethal condition. This paper summarizes the current evidence for, and the success of SCID NBS, together with a review of the practical aspects of SCID testing and the arguments in favour of adding SCID to the conditions screened for at birth.

  4. A prospective newborn screening and treatment program for sickle cell anemia in Luanda, Angola.

    PubMed

    McGann, Patrick T; Ferris, Margaret G; Ramamurthy, Uma; Santos, Brigida; de Oliveira, Vysolela; Bernardino, Luis; Ware, Russell E

    2013-12-01

    Over 300,000 infants are born annually with sickle cell anemia (SCA) in sub-Saharan Africa, and >50% die young from infection or anemia, usually without diagnosis of SCA. Early identification by newborn screening (NBS), followed by simple interventions dramatically reduced the mortality of SCA in the United States, but this strategy is not yet established in Africa. We designed and implemented a proof-of-principle NBS and treatment program for SCA in Angola, with focus on capacity building and local ownership. Dried bloodspots from newborns were collected from five birthing centers. Hemoglobin identification was performed using isoelectric focusing; samples with abnormal hemoglobin patterns were analyzed by capillary electrophoresis. Infants with abnormal FS or FSC patterns were enrolled in a newborn clinic to initiate penicillin prophylaxis and receive education, pneumococcal immunization, and insecticide-treated bed nets. A total of 36,453 infants were screened with 77.31% FA, 21.03% FAS, 1.51% FS, and 0.019% FSC. A majority (54.3%) of affected infants were successfully contacted and brought to clinical care. Compliance in the newborn clinic was excellent (96.6%). Calculated first-year mortality rate for babies with SCA compares favorably to the national infant mortality rate (6.8 vs. 9.8%). The SCA burden is extremely high in Angola, but NBS is feasible. Capacity building and training provide local healthcare workers with skills needed for a functional screening program and clinic. Contact and retrieval of all affected SCA infants remains a challenge, but families are compliant with clinic appointments and treatment. Early mortality data suggest screening and early preventive care saves lives.

  5. Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry.

    PubMed

    Yoon, Hye-Ran

    2015-09-01

    The main purpose of newborn screening is to diagnose genetic, metabolic, and other inherited disorders, at their earliest to start treatment before the clinical manifestations become evident. Understanding and tracing the biochemical data obtained from tandem mass spectrometry is vital for early diagnosis of metabolic diseases associated with such disorders. Accordingly, it is important to focus on the entire diagnostic process, including differential and confirmatory diagnostic options, and the major factors that influence the results of biochemical analysis. Compared to regular biochemical testing, this is a complex process carried out by a medical physician specialist. It is comprised of an integrated program requiring multidisciplinary approach such as, pediatric specialist, expert scientist, clinical laboratory technician, and nutritionist. Tandem mass spectrometry is a powerful tool to improve screening of newborns for diverse metabolic diseases. It is likely to be used to analyze other treatable disorders or significantly improve existing newborn tests to allow broad scale and precise testing. This new era of various screening programs, new treatments, and the availability of detection technology will prove to be beneficial for the future generations.

  6. A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios.

    PubMed

    Vaz, Frédéric M; Bootsma, Albert H; Kulik, Willem; Verrips, Aad; Wevers, Ron A; Schielen, Peter C; DeBarber, Andrea E; Huidekoper, Hidde H

    2017-03-17

    Cerebrotendinous xanthomatosis (CTX) is a treatable neurodegenerative metabolic disorder of bile acid synthesis where symptoms can be prevented if treatment with chenodeoxycholic acid supplementation is initiated early in life, making CTX an excellent candidate for newborn screening. We developed a new dried blood spot screening assay for this disorder based on different ratios between the accumulating cholestanetetrol glucuronide (tetrol) and specific bile acids/bile acid intermediates, without the need for derivatization. A quarter-inch dried blood spot punch was extracted with methanol, internal standards were added and after concentration the extract was injected into the tandem mass spectrometer using a 2 minute flow injection analysis where specific transitions were measured for cholestanetetrol glucuronide, tauro-chenodeoxycholic acid (t-CDCA) and tauro-trihydroxycholestanoic acid (t-THCA). A proof of principle experiment was performed using 216 Guthrie cards from healthy term/preterm newborns, CTX patients and Zellweger patients. Using two calculated biomarkers, tetrol/t-CDCA and t-THCA/tetrol, this straightforward method achieved an excellent separation between dried blood spots of CTX patients and those of controls, Zellweger patients and newborns with cholestasis. The results of this small pilot study indicate that the tetrol/t-CDCA ratio is an excellent derived biomarker for CTX that has the potential to be used in neonatal screening programs.

  7. Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.

    PubMed

    Scolamiero, Emanuela; Cozzolino, Carla; Albano, Lucia; Ansalone, Antonella; Caterino, Marianna; Corbo, Graziella; di Girolamo, Maria Grazia; Di Stefano, Cristina; Durante, Adriano; Franzese, Giovanni; Franzese, Ignazio; Gallo, Giovanna; Giliberti, Paolo; Ingenito, Laura; Ippolito, Giovanni; Malamisura, Basilio; Mazzeo, Pietro; Norma, Antonella; Ombrone, Daniela; Parenti, Giancarlo; Pellecchia, Silvana; Pecce, Rita; Pierucci, Ippolito; Romanelli, Roberta; Rossi, Anna; Siano, Massimo; Stoduto, Teodoro; Villani, Guglielmo R D; Andria, Generoso; Salvatore, Francesco; Frisso, Giulia; Ruoppolo, Margherita

    2015-06-01

    Inborn errors of metabolism are genetic disorders due to impaired activity of enzymes, transporters, or cofactors resulting in accumulation of abnormal metabolites proximal to the metabolic block, lack of essential products or accumulation of by-products. Many of these disorders have serious clinical consequences for affected neonates, and an early diagnosis allows presymptomatic treatment which can prevent severe permanent sequelae and in some cases death. Expanded newborn screening for these diseases is a promising field of targeted metabolomics. Here we report the application, between 2007 and 2014, of this approach to the identification of newborns in southern Italy at risk of developing a potentially fatal disease. The analysis of amino acids and acylcarnitines in dried blood spots by tandem mass spectrometry revealed 24 affected newborns among 45,466 infants evaluated between 48 and 72 hours of life (overall incidence: 1 : 1894). Diagnoses of newborns with elevated metabolites were confirmed by gas chromatography-mass spectrometry, biochemical studies, and genetic analysis. Five infants were diagnosed with medium-chain acyl CoA dehydrogenase deficiency, 1 with methylmalonic acidemia with homocystinuria type CblC, 2 with isolated methylmalonic acidemia, 1 with propionic acidemia, 1 with isovaleric academia, 1 with isobutyryl-CoA dehydrogenase deficiency, 1 with beta ketothiolase deficiency, 1 with short branched chain amino acid deficiency, 1 with 3-methlycrotonyl-CoA carboxylase deficiency, 1 with formimino-transferase cyclodeaminase deficiency, and 1 with cystathionine-beta-synthase deficiency. Seven cases of maternal vitamin B12 deficiency and 1 case of maternal carnitine uptake deficiency were detected. This study supports the widespread application of metabolomic-based newborn screening for these genetic diseases.

  8. A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels.

    PubMed

    Chinen, Yasutsugu; Nakamura, Sadao; Yoshida, Tomohide; Maruyama, Hiroki; Nakamura, Kimitoshi

    2017-01-01

    A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low α-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of the GLA gene. This mutation was considered to be a late-onset type, as evaluated based on plasma globotriaosylsphingosine levels and family history.

  9. A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels

    PubMed Central

    Chinen, Yasutsugu; Nakamura, Sadao; Yoshida, Tomohide; Maruyama, Hiroki; Nakamura, Kimitoshi

    2017-01-01

    A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low α-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of the GLA gene. This mutation was considered to be a late-onset type, as evaluated based on plasma globotriaosylsphingosine levels and family history. PMID:28224042

  10. Ultrasound as a primary screening tool for detecting low birthweight newborns

    PubMed Central

    Goto, Eita

    2016-01-01

    Abstract Background: As low birthweight (i.e., birthweight < 2500 g) is a major determinant of neonatal mortality and morbidity, the pre-delivery detection of low birthweight is clinically advantageous. This study was performed to determine whether ultrasound is suitable for use in primary screening to detect low birthweight newborns. Methods: The primary outcomes included sensitivity, specificity, and positive and negative likelihood ratios of ultrasound detection of low birthweight newborns. Ten databases, including PubMed, were searched. All English language studies that provided true- and false-positive and true- and false-negative results regarding the pre-delivery ultrasound detection of low birthweight newborns were eligible for inclusion in the analysis. Study quality was assessed using the Quality Assessment of Diagnostic Accuracy Studies. Bivariate diagnostic meta-analysis was performed and hierarchical summary receiver operating characteristic curves were constructed. Results: Studies of relatively good quality were included in the analysis to evaluate crown–rump length (n = 12); femur length (n = 5); formulas of Campbell, Hadlock, and Shepard (n = 9); and uterine artery blood flow (n = 7). All showed low sensitivity (=0.24–0.58) regardless of specificity (=0.60–0.96). The formulas of Campbell, Hadlock, and Shepard were usable for a confirmation strategy only (positive and negative likelihood ratios = 14.8 and 0.44, respectively), but crown–rump or femur length, and uterine artery blood flow were not usable for an exclusion or confirmation strategy (positive and negative likelihood ratios = 1.4–2.8 and 0.71–0.85, respectively). Conclusions: Primary screening does not have to confirm low birthweight, but should almost always categorize low birthweight as a positive result and exclude normal birthweight. Therefore, ultrasound is not suitable as a primary screening tool to detect low birthweight newborns. PMID

  11. Screening for cystic fibrosis in the newborn by meconium analysis.

    PubMed Central

    Ryley, H C; Neale, L M; Brogan, T D; Bray, P T

    1979-01-01

    During a 4-year routine screening programme for cystic fibrosis (CF) 15 464 specimens were examined for raised meconium albumin levels by a test strip method and by electroimmunoassay. The incidence of false-positive results was about 5 per 1000 specimens in either test. This could be reduced by 90% by determining the ratio of albumin : alpha-1-trypsin inhibitor (a ratio below 2.0 being considered as a negative result), and it could be reduced to zero by determining the ratio in subsequent faecal specimens. Three of 12 meconium specimens from infants with proved CF gave false-negative results in all 3 tests. The other 9 specimens had greater than 100 mg albumin/g dry weight and albumin: alpha-1-trypsin inhibitor ratios of greater than 3.0; in subsequent faecal specimens the ratios were over 4.0. 176 meconium specimens from elsewhere in the UK were examined and these included 23 from infants who were subsequently proved to have CF. Six of these 23 CF specimens gave false-negative results, the other 17 being strongly positive. The origins of meconium serum protein suggest that infants with CF in whom meconium gives false-negative results have normal pancreatic functions at birth. The specificity of current meconium tests therefore cannot be improved as they depend on pancreatic dysfunction. PMID:312055

  12. Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?

    PubMed Central

    Cadet, E; Capron, D; Gallet, M; Omanga-Leke, M; Boutignon, H; Julier, C; Robson, K; Rochette, J

    2005-01-01

    Background: Genetic testing can determine those at risk for hereditary haemochromatosis (HH) caused by HFE mutations before the onset of symptoms. However, there is no optimum screening strategy, mainly owing to the variable penetrance in those who are homozygous for the HFE Cys282Tyr (C282Y) mutation. The objective of this study was to identify the majority of individuals at serious risk of developing HFE haemochromatosis before they developed life threatening complications. Methods: We first estimated the therapeutic penetrance of the C282Y mutation in people living in la Somme, France, using genetic, demographic, biochemical, and follow up data. We examined the benefits of neonatal screening on the basis of increased risk to relatives of newborns carrying one or two copies of the C282Y mutation. Between 1999 and 2002, we screened 7038 newborns from two maternity hospitals in the north of France for the C282Y and His63Asp (H63D) mutations in the HFE gene, using bloodspots collected on Guthrie cards. Family studies and genetic counselling were undertaken, based on the results of the baby's genotype. Findings: In la Somme, we found that 24% of the adults homozygous for the C282Y mutation required at least 5 g iron to be removed to restore normal iron parameters (that is, the therapeutic penetrance). In the reverse cascade screening study, we identified 19 C282Y homozygotes (1/370), 491 heterozygotes (1/14) and 166 compound heterozygotes (1/42) in 7038 newborns tested. The reverse cascade screening strategy resulted in 80 adults being screened for both mutations. We identified 10 previously unknown C282Y homozygotes of whom six (four men and two women) required venesection. Acceptance of neonatal screening was high; parents understood the risks of having HH and the benefits of early detection, but a number of parents were reluctant to take the test themselves. Neonatal screening for HH is straightforward. Reverse cascade screening increased the efficiency of

  13. [Analysis of newborn screening for galactosemia and genotype-phenotype of confirmed galatosemia cases].

    PubMed

    Yang, R L; Tong, F; Hong, F; Qian, G L; Wu, D W; Zhao, Z Y

    2017-02-02

    Objective: To investigate the prevalence of galactosemia(GAL), and the characteristics of genotype and phenotype of newborns who were confirmed with GAL in newborn screening in Zhejiang province. Method: The number of all live births, newborn screened infants and all clinical data of confirmed newborns with GAL from October 2013 to March 2015 were retrospectively analyzed by reviewing the data of Zhejiang Province screening center database. And the characteristics of genes and the clinical data of GAL cases who were confirmed by correlative gene test and enzyme activity measurement were analyzed. Result: The prevalence of GAL in Zhejiang province was 1/189 857. Among them, there was 1 case confirmed with GAL typeⅠ (prevalence, 1/759 428), with mutations of c. 904+ 1G>T and c. 687G>A, the enzyme activity of galactose-1-phosphate uridyltransferase (GALT) was 56.4% of controls. And there was 1 case of GAL typeⅡ(prevalence, 1/759 428), with mutations of c. 85G>T and c. 502G>A. There were 2 cases confirmed with GAL type Ⅲ(prevalence, 1/379 714), with mutations of c. 505C>T, c. 452G>A, c. 280G>A and c. 925G>A, the enzyme activity of UDP-galactose-4'-epimerase (GALE) were 42% and 38% of controls, respectively. All cases had different abnormal biochemical marks of liver function, and 1 case had combined hyperlactacidemia or hyperammonemia or increase of multiple kinds of amino acids, respectively. The newborn of GAL type Ⅱ had phacoscotasmus before treatment. All the cases were fed with lactose free milk powder, and all the abnormal parameters were improved during following up. Conclusion: The disease of GAL is rare in Zhejiang province, and its genotype distribution is scattered with comparatively mind clinical manifestations, and the cases with early treatment with lactose free milk powder have good prognosis. All cases needed to be treated and followed up for a life-long time. It is recommended that the high risk cases with GAL should be screened as soon as

  14. Tandem mass spectrometry newborn screening for inborn errors of intermediary metabolism: abnormal profile interpretation.

    PubMed

    Fernández-Lainez, C; Aguilar-Lemus, J J; Vela-Amieva, M; Ibarra-González, I

    2012-01-01

    Expanded newborn screening for inherited metabolic disorders using tandem mass spectrometry was introduced in 1990's and is widely used around the world. In contrast to conventional screening methods, tandem mass spectrometry does not measure single analytes but identifies and quantifies metabolite profiles; one single blood spot analyzed provides information of about 60 metabolites including amino acids, acylcarnitines and related ratios that enable the diagnosis of approximately 50 different diseases. However, the interpretation of these profiles can become quite complex. The aim of this work is to present in an easy and practical manner a comprehensive compilation of information needed for tandem mass neonatal screening profile interpretation, and basic actions for immediate follow up of abnormal results, including the tests that are required for confirmatory purposes. Other conditions not attributable to metabolic disorders which can lead to an abnormal profile of these markers are also described as well as a series of general recommendations which would be useful for health professionals who are beginning newborn screening for inborn errors of intermediary metabolism using tandem mass spectrometry.

  15. Interdisciplinary approach to design, performance, and quality management in a multicenter newborn hearing screening project: introduction, methods, and results of the newborn hearing screening in Hamburg (Part I).

    PubMed

    Rohlfs, Anna-Katharina; Wiesner, Thomas; Drews, Holger; Müller, Frank; Breitfuss, Achim; Schiller, Regina; Hess, Markus

    2010-11-01

    From the actual point of view, the "sensitive period" for the effects of hearing impairment on speech and language development is within the first year of life. Early exposure to acoustic or electric stimulation can compensate for the acoustic deficit. A regional-based, specifically designed concept of a universal newborn hearing screening (UNHS) was started in Hamburg in the year 2002. For the first time in Germany, a comprehensive protocol including screening measurement, follow-up procedures, tracking, and early intervention was implemented. An interdisciplinary approach from the very beginning could be realized. Sixty-three thousand, four hundred fifty-nine out of 65,466 births were registered during the period August 2002 to July 2006, 93% were primarily screened. 3.3% failed the test and 31.3% were lost to follow-up. A total of 118 children were diagnosed with hearing loss in the follow-up. The median age at time of diagnosis was 3.5 months. Seventy-four children received hearing aids. Out of these 74 children, 6 were subsequently supplied with cochlear implants. The high lost-to-follow-up rate is the biggest challenge for the tracking. Our results will be discussed in part II.

  16. Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal.

    PubMed

    Kwon, Jennifer M; Abdel-Hamid, Hoda Z; Al-Zaidy, Samiah A; Mendell, Jerry R; Kennedy, Annie; Kinnett, Kathi; Cwik, Valerie A; Street, Natalie; Bolen, Julie; Day, John W; Connolly, Anne M

    2016-08-01

    New developments in the rapid diagnosis and treatment of boys with Duchenne muscular dystrophy (DMD) have led to growing enthusiasm for instituting DMD newborn screening (NBS) in the United States. Our group has been interested in developing clinical guidance to be implemented consistently in specialty care clinics charged with the care of presymptomatically identified newborns referred after DMD-NBS. We reviewed the existing literature covering patient-centered clinical follow-up after NBS, educational material from public health and advocacy sites, and federal recommendations on effective NBS follow-up. We discussed the review as a group and added our own experience to develop materials suitable for initial parent and primary care provider education. These materials and a series of templates for subspecialist encounters could be used to provide consistent care across centers and serve as the basis for ongoing quality improvement. Muscle Nerve 54: 186-191, 2016.

  17. Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry☆

    PubMed Central

    Elliott, Susan; Buroker, Norman; Cournoyer, Jason J.; Potier, Anna M.; Trometer, Joseph D.; Elbin, Carole; Schermer, Mack J.; Kantola, Jaana; Boyce, Aaron; Turecek, Frantisek; Gelb, Michael H.; Scott, C. Ronald

    2017-01-01

    Background There is current expansion of newborn screening (NBS) programs to include lysosomal storage disorders because of the availability of treatments that produce an optimal clinical outcome when started early in life. Objective To evaluate the performance of a multiplex-tandem mass spectrometry (MS/MS) enzymatic activity assay of 6 lysosomal enzymes in a NBS laboratory for the identification of newborns at risk for developing Pompe, Mucopolysaccharidosis-I (MPS-I), Fabry, Gaucher, Niemann Pick-A/B, and Krabbe diseases. Methods and Results Enzyme activities (acid α-glucosidase (GAA), galactocerebrosidase (GALC), glucocerebrosidase (GBA), α-galactosidase A (GLA), α-iduronidase (IDUA) and sphingomyeline phosphodiesterase-1 (SMPD-1)) were measured on ~43,000 de-identified dried blood spot (DBS) punches, and screen positive samples were submitted for DNA sequencing to obtain genotype confirmation of disease risk. The 6-plex assay was efficiently performed in the Washington state NBS laboratory by a single laboratory technician at the bench using a single MS/MS instrument. The number of screen positive samples per 100,000 newborns were as follows: GAA (4.5), IDUA (13.6), GLA (18.2), SMPD1 (11.4), GBA (6.8), and GALC (25.0). Discussion A 6-plex MS/MS assay for 6 lysosomal enzymes can be successfully performed in a NBS laboratory. The analytical ranges (enzyme-dependent assay response for the quality control HIGH sample divided by that for all enzyme-independent processes) for the 6-enzymes with the MS/MS is 5- to 15-fold higher than comparable fluorimetric assays using 4-methylumbelliferyl substrates. The rate of screen positive detection is consistently lower for the MS/MS assay compared to the fluorimetric assay using a digital microfluidics platform. PMID:27238910

  18. Newborn Hearing Screening in a Public Maternity Ward in Curitiba, Brazil: Determining Factors for Not Retesting.

    PubMed

    Luz, Idalina; Ribas, Angela; Kozlowski, Lorena; Willig, Mariluci; Berberian, Ana Paula

    2016-10-01

    Introduction Law 12.303/10 requires hearing screening in newborns before hospital discharge to detect possible hearing problems within the first three months after birth. If the newborn fails the test or presents signs of risk for hearing loss, it must undergo a retest and monitoring during the first year of life. In practice, this often does not happen. Objective To identify, in a group of mothers of children with risk factors for hearing loss, the determining reasons for non-compliance with the auditory retest. Method This is a cross-sectional quantitative study. For data collection, we handed a semi-structured questionnaire to 60 mothers of babies at risk for hearing loss who did not attend the hearing retest after hospital discharge. The questionnaire investigated their age, education, marital status, level of knowledge about the hearing screening, and reasons for non-compliance with the retest. We compared and analyzed data using the Chi-square test at a significance level of 0.05%. Results Our study found that 63% of the respondents were unaware of the hearing screening and most did not receive guidance on testing during prenatal care; 30% of participants stated forgetting as the reason for not attending the retest. There was no significant relationship between age, education, and marital status regarding knowledge about the test and the non-compliance with the retest. Conclusion Identified as the most significant determining factors for non-compliance with the newborn hearing screening retest were the surveyed mothers' forgetting the date, and their ignorance as to the importance of retesting.

  19. Newborn Hearing Screening in a Public Maternity Ward in Curitiba, Brazil: Determining Factors for Not Retesting

    PubMed Central

    Luz, Idalina; Ribas, Angela; Kozlowski, Lorena; Willig, Mariluci; Berberian, Ana Paula

    2015-01-01

    Introduction Law 12.303/10 requires hearing screening in newborns before hospital discharge to detect possible hearing problems within the first three months after birth. If the newborn fails the test or presents signs of risk for hearing loss, it must undergo a retest and monitoring during the first year of life. In practice, this often does not happen. Objective To identify, in a group of mothers of children with risk factors for hearing loss, the determining reasons for non-compliance with the auditory retest. Method This is a cross-sectional quantitative study. For data collection, we handed a semi-structured questionnaire to 60 mothers of babies at risk for hearing loss who did not attend the hearing retest after hospital discharge. The questionnaire investigated their age, education, marital status, level of knowledge about the hearing screening, and reasons for non-compliance with the retest. We compared and analyzed data using the Chi-square test at a significance level of 0.05%. Results Our study found that 63% of the respondents were unaware of the hearing screening and most did not receive guidance on testing during prenatal care; 30% of participants stated forgetting as the reason for not attending the retest. There was no significant relationship between age, education, and marital status regarding knowledge about the test and the non-compliance with the retest. Conclusion Identified as the most significant determining factors for non-compliance with the newborn hearing screening retest were the surveyed mothers' forgetting the date, and their ignorance as to the importance of retesting. PMID:27746830

  20. Application of a second-tier newborn screening assay for c5 isoforms.

    PubMed

    Cloppenborg, T; Janzen, N; Wagner, Hj; Steuerwald, U; Peter, M; Das, Am

    2014-01-01

    We report a case of false-positive metabolic screening for isovaleric acidemia in a newborn due to treatment of the mother with pivalic acid containing antibiotics before delivery. By using a recently established second-tier test based on the tandem-MS technique, we could identify pivalic acid in a dried blood sample taken during routine neonatal screening. Before this second-tier test was initiated, diverse analytical procedures were performed in the baby to rule out isovaleric acidemia and carnitine supplementation was started. This caused additional psychological burden to the family. The direct use of the second-tier test would have avoided these negative consequences of a false-positive screening result.

  1. Evidence for a Right-Ear Advantage in Newborn Hearing Screening Results

    PubMed Central

    Hildesheimer, Minka; Roziner, Ilan; Henkin, Yael

    2016-01-01

    The aim of the present study was to investigate the effect of ear asymmetry, order of testing, and gender on transient-evoked otoacoustic emission (TEOAE) pass rates and response levels in newborn hearing screening. The screening results of 879 newborns, of whom 387 (study group) passed screening successfully in only one ear in the first TEOAE screening, but passed screening successfully in both ears thereafter, and 492 (control group) who passed screening successfully in both ears in the first TEOAE, were retrospectively examined for pass rates and TEOAE characteristics. Results indicated a right-ear advantage, as manifested by significantly higher pass rates in the right ear (61% and 39% for right and left ears, respectively) in the study group, and in 1.75 dB greater TEOAE response amplitudes in the control group. The right-ear advantage was enhanced when the first tested ear was the right ear (76%). When the left ear was tested first, pass rates were comparable in both ears. The right-ear advantage in pass rates was similar in females versus males, but manifested in 1.5 dB higher response amplitudes in females compared with males, regardless of the tested ear and order of testing in both study and control groups. The study provides further evidence for the functional lateralization of the auditory system at the cochlear level already apparent soon after birth in both males and females. While order of testing plays a significant role in the asymmetry in pass rates, the innate right-ear advantage seems to be a more dominant contributor. PMID:27927982

  2. Evidence for a Right-Ear Advantage in Newborn Hearing Screening Results.

    PubMed

    Ari-Even Roth, Daphne; Hildesheimer, Minka; Roziner, Ilan; Henkin, Yael

    2016-12-06

    The aim of the present study was to investigate the effect of ear asymmetry, order of testing, and gender on transient-evoked otoacoustic emission (TEOAE) pass rates and response levels in newborn hearing screening. The screening results of 879 newborns, of whom 387 (study group) passed screening successfully in only one ear in the first TEOAE screening, but passed screening successfully in both ears thereafter, and 492 (control group) who passed screening successfully in both ears in the first TEOAE, were retrospectively examined for pass rates and TEOAE characteristics. Results indicated a right-ear advantage, as manifested by significantly higher pass rates in the right ear (61% and 39% for right and left ears, respectively) in the study group, and in 1.75 dB greater TEOAE response amplitudes in the control group. The right-ear advantage was enhanced when the first tested ear was the right ear (76%). When the left ear was tested first, pass rates were comparable in both ears. The right-ear advantage in pass rates was similar in females versus males, but manifested in 1.5 dB higher response amplitudes in females compared with males, regardless of the tested ear and order of testing in both study and control groups. The study provides further evidence for the functional lateralization of the auditory system at the cochlear level already apparent soon after birth in both males and females. While order of testing plays a significant role in the asymmetry in pass rates, the innate right-ear advantage seems to be a more dominant contributor.

  3. Parents' Decisions to Screen Newborns for FMR1 Gene Expansions in a Pilot Research Project

    PubMed Central

    Choudhury, Summer; Sideris, John; Guarda, Sonia; Buansi, Allen; Roche, Myra; Powell, Cynthia; Bailey, Donald B.

    2011-01-01

    OBJECTIVE: The goal of this study was to document rates of parental consent in a pilot study of newborn screening for FMR1 gene expansions, examine demographic characteristics of mothers who consented or declined, describe the reasons for their decision, and discuss ethical and social aspects of the consent process. METHODS: A brief survey was used to record basic demographic data from mothers and an open-ended question was used to elicit parents' reasons for accepting or declining screening. A descriptive analysis was conducted on the number of mothers who consented to or declined screening, and a logistic regression model predicted mothers' likelihood to agree to screening based on demographic characteristics. Reasons for decisions were analyzed using content analysis. The study was conducted at University of North Carolina Hospitals. A total of 2137 mothers were approached. RESULTS: The uptake rate for couples was 63%. Acceptance rates varied by race/ethnicity, with black respondents being less likely to accept screening. Primary reasons for accepting were “to know,” “belief in research,” and “the test was minimal/no risk.” Reasons for declining included not wanting to know or worry, not being a good time, and issues with testing children or with genetic tests. CONCLUSIONS: Findings demonstrate that a majority of parents accepted newborn screening for FMR1 gene expansions, but decision rates and reasons for accepting or declining varied in part as a function of race/ethnicity and in part as a function of what parents most valued or feared in their assessment of risks and benefits. PMID:21624881

  4. The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005.

    PubMed

    Frazier, D M; Millington, D S; McCandless, S E; Koeberl, D D; Weavil, S D; Chaing, S H; Muenzer, J

    2006-02-01

    North Carolina (NC) was the first US state to initiate universal tandem mass spectrometry (MS/MS) newborn screening. This began as a statewide pilot project in 1997 to determine the incidence and feasibility of screening for fatty acid oxidation, organic acid and selected amino acid disorders. The MS/MS analyses were done by a commercial laboratory and all follow-up and confirmatory testing was performed through the NC Newborn Screening (NBS) Program. In April 1999, the NC NBS Laboratory began the MS/MS analyses in-house. Between 28 July 1997 and 28 July 2005, 944,078 infants were screened and 219 diagnoses were confirmed on newborns with elevated screening results, for an overall incidence of 1:4,300. Ninety-nine infants were identified with fatty acid oxidation disorders, 58 with organic acidaemias and 62 with aminoacidopathies. Medium-chain acyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency and disorders of phenylalanine metabolism were the most common disorders detected. Identification of affected infants has allowed retrospective testing of other family members, resulting in an additional 16 diagnoses. Seven neonates died from complications of their metabolic disorders/prematurity despite timely MS/MS screening. In addition, there were six infants who were not identified by elevated NBS results but who presented with symptoms later in infancy. The NC MS/MS NBS Program uses a two-tier system, categorizing results as either 'borderline' or 'diagnostic' elevated, for both the cutoffs and follow-up protocol. Infants with an initial borderline result had only a repeat screen. Infants with a diagnostic or two borderline results were referred for confirmatory testing. The positive predictive value of the NC MS/MS NBS for those infants requiring confirmatory testing was 53% for 2003 and 2004. The success of the NC MS/MS NBS Program in identifying infants with metabolic disorders was dependent on a comprehensive follow-up protocol

  5. Newborn Screening: National Library of Medicine Literature Search, January 1980 through March 1987. No. 87-2.

    ERIC Educational Resources Information Center

    Patrias, Karen

    This bibliography, prepared by the National Library of Medicine through a literature search of its online databases, covers all aspects of newborn screening. It includes references to screening for: inborn errors of metabolism, such as phenylketonuria and galactosemia; hemoglobinopathies, particularly sickle cell disease; congenital hypothyroidism…

  6. 21 CFR 862.1055 - Newborn screening test system for amino acids, free carnitine, and acylcarnitines using tandem...

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ..., free carnitine, and acylcarnitines using tandem mass spectrometry. 862.1055 Section 862.1055 Food and... screening test system for amino acids, free carnitine, and acylcarnitines using tandem mass spectrometry. (a) Identification. A newborn screening test system for amino acids, free carnitine, and acylcarnitines using...

  7. Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening.

    PubMed

    Anderson, Sharon; Botti, Christina; Li, Bo; Millonig, James H; Lyon, Elaine; Millson, Alison; Karabin, Suzanne S M; Brooks, Susan Sklower

    2012-09-01

    In the follow-up of New Jersey newborn screens suggestive of medium chain acyl-CoA dehydrogenase deficiency (MCADD) during a 30-month period, we identified five patients of Hispanic American ethnicity. With information provided by the New Jersey Department of Health and Human Services Newborn Screening program we calculated an overall cumulative incidence of approximately 7.20/100,000 for MCADD; 7.58/100,000 among Hispanic Americans and 7.08/100,000 among non-Hispanic Americans. Among the five Hispanic American infants who screened positive, a common variant (c.443G>A [p.R148K]) was identified which accounted for 30% of the alleles; c.799G>A (p.G267R) and c.985A>G (p.K329E) each accounted for an additional 20%; and a novel variant c.302G>A (p.G101E) was identified in one patient. Although treated prospectively during interim illnesses to prevent unwanted sequelae; till date, none of the patients carrying the c.443G>A variant have been symptomatic.

  8. Universal newborn screening for congenital CMV infection: what is the evidence of potential benefit?†

    PubMed Central

    Cannon, Michael J.; Griffiths, Paul D.; Aston, Van; Rawlinson, William D.

    2015-01-01

    SUMMARY Congenital CMV infection is a leading cause of childhood disability. Many children born with congenital CMV infection are asymptomatic or have nonspecific symptoms and therefore are typically not diagnosed. A strategy of newborn CMV screening could allow for early detection and intervention to improve clinical outcomes. Interventions might include antiviral drugs or nonpharmaceutical therapies such as speech-language therapy or cochlear implants. Using published data from developed countries, we analyzed existing evidence of potential benefit that could result from newborn CMV screening. We first estimated the numbers of children with the most important CMV-related disabilities (i.e. hearing loss, cognitive deficit, and vision impairment), including the age at which the disabilities occur. Then, for each of the disabilities, we examined the existing evidence for the effectiveness of various interventions. We concluded that there is good evidence of potential benefit from nonpharmaceutical interventions for children with delayed hearing loss that occurs by 9 months of age. Similarly, we concluded that there is fair evidence of potential benefit from antiviral therapy for children with hearing loss at birth and from nonpharmaceutical interventions for children with delayed hearing loss occurring between 9 and 24 months of age and for children with CMV-related cognitive deficits. We found poor evidence of potential benefit for children with delayed hearing loss occurring after 24 months of age and for children with vision impairment. Overall, we estimated that in the United States, several thousand children with congenital CMV could benefit each year from newborn CMV screening, early detection, and interventions. Copyright © 2014 John Wiley & Sons, Ltd. PMID:24760655

  9. Universal newborn screening for congenital CMV infection: what is the evidence of potential benefit?

    PubMed

    Cannon, Michael J; Griffiths, Paul D; Aston, Van; Rawlinson, William D

    2014-09-01

    Congenital CMV infection is a leading cause of childhood disability. Many children born with congenital CMV infection are asymptomatic or have nonspecific symptoms and therefore are typically not diagnosed. A strategy of newborn CMV screening could allow for early detection and intervention to improve clinical outcomes. Interventions might include antiviral drugs or nonpharmaceutical therapies such as speech-language therapy or cochlear implants. Using published data from developed countries, we analyzed existing evidence of potential benefit that could result from newborn CMV screening. We first estimated the numbers of children with the most important CMV-related disabilities (i.e. hearing loss, cognitive deficit, and vision impairment), including the age at which the disabilities occur. Then, for each of the disabilities, we examined the existing evidence for the effectiveness of various interventions. We concluded that there is good evidence of potential benefit from nonpharmaceutical interventions for children with delayed hearing loss that occurs by 9 months of age. Similarly, we concluded that there is fair evidence of potential benefit from antiviral therapy for children with hearing loss at birth and from nonpharmaceutical interventions for children with delayed hearing loss occurring between 9 and 24 months of age and for children with CMV-related cognitive deficits. We found poor evidence of potential benefit for children with delayed hearing loss occurring after 24 months of age and for children with vision impairment. Overall, we estimated that in the United States, several thousand children with congenital CMV could benefit each year from newborn CMV screening, early detection, and interventions.

  10. Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.

    PubMed

    Cavicchi, C; Malvagia, S; la Marca, G; Gasperini, S; Donati, M A; Zammarchi, E; Guerrini, R; Morrone, A; Pasquini, E

    2009-07-12

    In an expanded newborn screening program for inborn errors of metabolism by LC-MS/MS in Tuscany, six newborns out of 169,000 showed decreased blood citrulline levels. In one of them, molecular analysis of the OTC gene identified the known p.Trp265Leu mutation, which is correlated with late-onset ornithine transcarbamylase deficiency (OTCD). Hypocitrullinemia is not a reliable marker for OTCD newborn screening, especially for late-onset forms that may exhibit normal citrulline levels. However, when hypocitrullinemia is detected in a newborn in whom intestinal dysfunction and prematurity have been excluded, OTCD should be investigated first because of the OTCD incidence (1:14,000) and the small size of the OTC gene coding sequence.

  11. The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area).

    PubMed

    Grosse, Regine; Lukacs, Zoltan; Cobos, Paulina Nieves; Oyen, Florian; Ehmen, Christa; Muntau, Birgit; Timmann, Christian; Noack, Bernd

    2016-01-01

    Sickle cell disease is among hereditary diseases with evidence that early diagnoses and treatment improves the clinical outcome. So far sickle cell disease has not been included in the German newborn screening program despite immigration from countries with populations at risk. To determine the birth prevalence we tested 17,018 newborns. High pressure liquid chromatography and subsequent molecular-genetic testing were used for the detection and confirmation of hemoglobin variants. The frequency of sickle cell disease-consistent genotypes was one in 2,385 newborns. Duffy-blood group typing showed evidence that affected children were likely of Sub-Saharan ancestry. An inclusion of sickle cell disease into the German newborn screening seems reasonable.

  12. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

    PubMed

    Coffee, Bradford; Keith, Krayton; Albizua, Igor; Malone, Tamika; Mowrey, Julie; Sherman, Stephanie L; Warren, Stephen T

    2009-10-01

    Fragile X syndrome (FXS) results from a CGG-repeat expansion that triggers hypermethylation and silencing of the FMR1 gene. FXS is referred to as the most common form of inherited intellectual disability, yet its true incidence has never been measured directly by large population screening. Here, we developed an inexpensive and high-throughput assay to quantitatively assess FMR1 methylation in DNA isolated from the dried blood spots of 36,124 deidentified newborn males. This assay displays 100% specificity and 100% sensitivity for detecting FMR1 methylation, successfully distinguishing normal males from males with full-mutation FXS. Furthermore, the assay can detect excess FMR1 methylation in 82% of females with full mutations, although the methylation did not correlate with intellectual disability. With amelogenin PCR used for detecting the presence of a Y chromosome, this assay can also detect males with Klinefelter syndrome (KS) (47, XXY). We identified 64 males with FMR1 methylation and, after confirmatory testing, found seven to have full-mutation FXS and 57 to have KS. Because the precise incidence of KS is known, we used our observed KS incidence as a sentinel to assess ascertainment quality and showed that our KS incidence of 1 in 633 newborn males was not significantly different from the literature incidence of 1 in 576 (p = 0.79). The seven FXS males revealed an FXS incidence in males of 1 in 5161 (95% confidence interval of 1 in 10,653-1 in 2500), consistent with some earlier indirect estimates. Given the trials now underway for possible FXS treatments, this method could be used in newborn or infant screening as a way of ensuring early interventions for FXS.

  13. Assessment of the Knowledge and Attitudes of Saudi Mothers towards Newborn Screening

    PubMed Central

    Al-Sulaiman, Ayman; Kondkar, Altaf A.; Saeedi, Mohammad Y.; Saadallah, Amal; Al-Odaib, Ali; Abu-Amero, Khaled K.

    2015-01-01

    Objective. To assess the attitude and knowledge of the Saudi mothers toward newborn screening (NBS) program. Methods. A total of 425 Saudi women (only mothers who have at least one pregnancy) participated in the study from different regions in Saudi Arabia and completed the structured questionnaire which sought their views on the NBS services. Results. A majority of the participating women (91.1%) supported the NBS program and felt it was very important and useful. However, knowledge of NBS was found to be very limited and only 34.6% knew that NBS was a test to detect genetic disorders. A lack of communication and counseling to NBS clients by health authorities offering screening is implied. Conclusion. In general, there is a positive attitude towards the NBS program among Saudi women. However, they have several concerns to improve the availability of medication and formulas, genetic counseling, medical interventions, communication, education materials, and awareness. PMID:26543864

  14. Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program.

    PubMed

    Botler, Judy; Camacho, Luiz Antonio Bastos; Cruz, Marly Marques da

    2012-09-01

    In this study, the frequency of detected congenital hypothyroidism, phenylketonuria and haemoglobinopathies in the State of Rio de Janeiro's (Brazil) Newborn Screening Program (NBSP) was analyzed between the years of 2005 and 2007. There were two Newborn Screening Reference Centers (named NSRC A and B) with programmatic differences. In 2007, overall detection coverage reached 80.7%. The increase in the incidence of congenital hypothyroidism (1:1,030 in 2007) was attributed to the reduction of neonatal TSH value limits over time. The incidence discrepancy of phenylketonuria between NSRC A (1:28,427) and B (1:16,522) might be partially explained by the small number of cases. The incidence of sickle cell disease and its traits were uniformly high (1:1,288 and 1:21, respectively). This was coherent with the ethnic composition of the population. The differences in laboratory methods and critical values, in addition to other programmatic issues, may explain the variances in the results and limited analysis of the role of biological and environmental determinants in the occurrence of these diseases.

  15. VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.

    PubMed

    Evans, Maureen; Andresen, Brage S; Nation, Judy; Boneh, Avihu

    2016-08-01

    Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder of fatty acid oxidation. Treatment practices of the disorder have changed over the past 10-15years since this disorder was included in newborn screening programs and patients were diagnosed pre-symptomatically. A genotype-phenotype correlation has been suggested but the discovery of novel mutations make this knowledge limited. Herein, we describe our experience in treating patients (n=22) diagnosed through newborn screening and mutational confirmation and followed up over a median period of 104months. We report five novel mutations. In 2013 we formalised our treatment protocol, which essentially follows a European consensus paper from 2009 and our own experience. The prescribed low natural fat diet is relaxed for patients who are asymptomatic when reaching age 5years but medium-chain triglyceride oil is recommended before and after physical activity regardless of age. Metabolic stability, growth, development and cardiac function are satisfactory in all patients. There were no episodes of encephalopathy or hypoglycaemia but three patients had episodes of muscle pain with our without rhabdomyolysis. Body composition studies showed a negative association between dietary protein intake and percent body fat. Larger patient cohort and longer follow up time are required for further elucidation of genotype-phenotype correlations and for establishing the role of dietary protein in metabolic stability and long-term healthier body composition in patients with VLCAD deficiency.

  16. Using Formative Research to Develop a Counselor Training Program for Newborn Screening in Ghana

    PubMed Central

    Anie, Kofi A.; Grant, Althea M.; Ofori-Acquah, Solomon F.; Ohene-Frempong, Kwaku

    2015-01-01

    Sickle cell disease (SCD), sickle cell trait (SCT) and related conditions are highly prevalent in sub-Saharan Africa. Despite the public health implications, there is limited understanding of the unique needs regarding establishing and implementing extensive screening for newborns and appropriate family counseling. We sought to gain understanding of community attitudes and beliefs about SCD/SCT from counselors and potential counselors in Ghana; obtain their input about goals for counseling following newborn screening; and obtain guidance about developing effective counselor education. Five focus groups with 32 health care providers and health educators from 9 of 10 regions in Ghana were conducted by trained facilitators according to a structured protocol. Qualitative data were coded and categorized to reflect common themes. Saturation was achieved in themes related to genetics/inheritance; common complications of SCD; potential for stigmatization; marital strain; and emotional stress. Misconceptions about SCT as a form of SCD were prevalent as were cultural and spiritual beliefs about the causes of SCD/SCT. Potential positive aspects included affected children's academic achievement as compensation for physical limitations, and family cohesion. This data informed recommendations for content and structure of a counselor training program that was provided to the Ministry of Health in Ghana. PMID:25193810

  17. Fiscal implications of newborn screening in the diagnosis of severe combined immunodeficiency.

    PubMed

    Kubiak, Catherine; Jyonouchi, Soma; Kuo, Caroline; Garcia-Lloret, Maria; Dorsey, Morna J; Sleasman, John; Zbrozek, Arthur S; Perez, Elena E

    2014-01-01

    In the United States, newborn screening (NBS) is currently recommended for identification of 31 debilitating and potentially fatal conditions. However, individual states determine which of the recommended conditions are screened. The addition of severe combined immunodeficiency (SCID) screening to the recommended NBS panel has been fully instituted by 18 states, with another 11 states piloting programs or planning to begin screening in 2014. Untreated, SCID is uniformly fatal by 2 years of age. Hematopoietic stem cell transplantation usually is curative, but the success rate depends on the age at which the procedure is performed. Short-term implementation costs may be a barrier to adding SCID to states' NBS panels. A retrospective economic analysis was performed to determine the cost-effectiveness of NBS for early (<3.5 months) versus late (≥3.5 months) treatment of children with SCID at 3 centers over 5 years. The mean total charges at these centers for late treatment were 4 times greater than early treatment ($1.43 million vs $365,785, respectively). Mean charges for intensive care treatments were >5 times higher ($350,252 vs $66,379), and operating room-anesthesia charges were approximately 4 times higher ($57,105 vs $15,885). The cost-effectiveness of early treatment for SCID provides a strong economic rationale for the addition of SCID screening to NBS programs of other states.

  18. Exploring existing and deliberated community perspectives of newborn screening: informing the development of state and national policy standards in newborn screening and the use of dried blood spots

    PubMed Central

    Muchamore, Ian; Morphett, Luke; Barlow-Stewart, Kristine

    2006-01-01

    Objective Since the 1960s newborn screening (NBS) for several rare and serious disorders has been in place across Australia. Testing of a simple blood spot now enables the early detection of over 30 conditions. Policies across Australian states have diverged in some aspects of NBS, especially in the retention and further use of dried blood spots collected as part of the screening and attempts are underway to bring some further national consistency. Whilst this has initiated debate amongst health professionals and policy makers there is limited empirical evidence of wider community attitudes to such issues. Methods This research has explored the range and depth of views held by the wider community in New South Wales through moderated small group discussions. It has also assessed the range and depth of responses where the groups are reconvened after being given further information. Results The findings suggest that there is limited community awareness of the public health importance of NBS and especially that resulting biological samples are stored. Members of the wider community presented with opportunities to consider current procedures and policies appear reassured and to have high levels of trust. However there are clearly some groups who have concerns with the storage of dried blood spot specimens and perceive that these may be abused. Policy implications and conclusion The findings will inform health professionals and policy makers as to the perceived benefits and future challenges NBS raises for the wider community. The findings have implications for improving current communications about NBS, maintaining public confidence and the development of state and national initiatives in genetic health. PMID:17164009

  19. Evaluation of universal newborn hearing screening in South African primary care

    PubMed Central

    Harbinson, Shannon

    2015-01-01

    Background: Universal Newborn Hearing Screening (UNHC) is the gold standard toward early hearing detection and intervention, hence the importance of its deliberation within the South African context. Aim: To determine the feasibility of screening in low-risk neonates, using Otoacoustic Emissions (OAEs), within the Midwife Obstetric Unit (MOU) three-day assessment clinic at a Community Health Centre (CHC), at various test times following birth. Method: Within a quantitative, prospective design, 272 neonates were included. Case history interviews, otoscopic examinations and Distortion Product OAEs (DPOAEs) screening were conducted at two sessions (within six hours and approximately three days after birth). Data were analysed via descriptive statistics. Results: Based on current staffing profile and practice, efficient and comprehensive screening is not successful within hours of birth, but is more so at the MOU three-day assessment clinic. Significantly higher numbers of infants were screened at session 2, with significantly less false-positive results. At session 1, only 38.1% of the neonates were screened, as opposed to more than 100% at session 2. Session 1 yielded an 82.1% rate of false positive findings, a rate that not only has important implications for the emotional well-being of the parents; but also for resource-stricken environments where expenditure has to be accounted for carefully. Conclusion: Current findings highlight the importance of studying methodologies to ensure effective reach for hearing screening within the South African context. These findings argue for UNHS initiatives to include the MOU three-day assessment to ensure that a higher number of neonates are reached and confounding variables such as vernix have been eliminated. PMID:26245605

  20. Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study

    PubMed Central

    Baker, Mei W.; Atkins, Anne E.; Cordovado, Suzanne K.; Hendrix, Miyono; Earley, Marie C.; Farrell, Philip M.

    2016-01-01

    Purpose Many regions have implemented newborn screening (NBS) for cystic fibrosis (CF) using a limited panel of cystic fibrosis transmembrane regulator (CFTR) mutations after immunoreactive trypsinogen (IRT) analysis. We sought to assess the feasibility of further improving the screening using next-generation sequencing (NGS) technology. Methods An NGS assay was used to detect 162 CFTR mutations/variants characterized by the CFTR2 project. We used 67 dried blood spots (DBSs) containing 48 distinct CFTR mutations to validate the assay. NGS assay was retrospectively performed on 165 CF screen–positive samples with one CFTR mutation. Results The NGS assay was successfully performed using DNA isolated from DBSs, and it correctly detected all CFTR mutations in the validation. Among 165 screen-positive infants with one CFTR mutation, no additional disease-causing mutation was identified in 151 samples consistent with normal sweat tests. Five infants had a CF-causing mutation that was not included in this panel, and nine with two CF-causing mutations were identified. Conclusion The NGS assay was 100% concordant with traditional methods. Retrospective analysis results indicate an IRT/NGS screening algorithm would enable high sensitivity, better specificity and positive predictive value (PPV). This study lays the foundation for prospective studies and for introducing NGS in NBS laboratories. PMID:25674778

  1. Efficacy of screening immune system function in at-risk newborns.

    PubMed

    Pavlovski, Christopher J

    2014-01-01

    This paper explores the introduction of a screening test to highlight impaired immune system status for newborn infants and its efficacy as a preventative clinical measure. Moreover, it is suggested that screening of the infantile immune system has the potential to highlight susceptibility to a range of infant and childhood diseases, bestowing an opportunity to introduce early intervention to reduce the incidence of these diseases. Development of the neonatal immune system is an important health issue, implicated in many childhood problems such as allergies, infection, and autoimmunity. The neonate has a limited immune system and ability to combat bacteria. Depleted levels of the tripeptide reduced glutathione (GSH) have been linked to numerous conditions and its intracellular level is acknowledged as an indicator of immune system function. Introduction of an immune system screening programme for infants is formally reviewed and assessed. Several benefits are reported in the treatment of impaired immune systems, a trial screening programme is proposed for at-risk infants to gather further evidence as to its efficacy. Infants at risk of impaired immune system function include cystic fibrosis, premature infants, and low birth weight infants. The interventions include breastfeeding, milk banks, and appropriate formula to support the immune system.

  2. Waiving informed consent in newborn screening research: balancing social value and respect.

    PubMed

    Tarini, Beth A; Burke, Wylie; Scott, C Ronald; Wilfond, Benjamin S

    2008-02-15

    While newborn screening (NBS) programs have historically relied on presumptive benefit in deciding when to implement new tests, experience has demonstrated that this approach can lead to screening tests that lack efficacy or, worse yet, cause harm. Population-based NBS research provides an opportunity to evaluate safety and effectiveness of potential tests prior to widespread implementation. Using the example of Pompe disease, we argue that waiving the requirement for informed consent is appropriate for research evaluating the screening phase of potential NBS tests when data support the potential health benefits of testing and when other research safeguards are present. The regulatory requirement for informed consent can be waived if a research study meets criteria of minimal risk, protecting rights and welfare, and practicability. In population-based NBS research, the main risks are related to false positive results and results with ambiguous implications for treatment-risks that are comparable to those posed by many tests newly added to NBS programs without prior population-based NBS research. Waiving the informed consent requirement facilitates the development of flexible strategies for informing and educating parents about NBS research that reflect the logistics of population-based NBS screening. A strict interpretation of the regulatory requirement of informed consent may create significant logistical and financial barriers to adequate evaluation of NBS tests. Without a broader interpretation of this regulatory requirement in NBS research for which there is evidence of a clinically meaningful benefit from treatment, we may create incentives for the implementation of inadequately evaluated NBS tests.

  3. Why newborn screening for severe combined immunodeficiency is essential: a case report.

    PubMed

    Adeli, Mehdi M; Buckley, Rebecca H

    2010-08-01

    Physicians caring for infants in the first months of life need to know the normal ranges for absolute lymphocyte counts (ALCs) during that age. Any ALC <2500/microL is potentially pathogenic in early infancy and should be evaluated. We report the case of a 4-month-old white girl with a 2-month history of an oral ulcer, intermittent fever, recurrent otitis, decreased appetite, weight loss, and a new respiratory illness with hypoxemia. She had been in an in-home day care since birth. The patient's primary care physician had seen her frequently and obtained blood counts, but her persistent lymphopenia had not been appreciated. The infant was ultimately diagnosed with T(-)B(-)NK(+) (lacking both B and T lymphocytes and having primarily natural killer [NK] cells), recombinase-activating gene 2 (RAG2)-deficient severe combined immunodeficiency (SCID). However, because she had already developed 2 difficult-to-treat viral infections (parainfluenza 3 and adenovirus), she did not survive long enough to receive a bone marrow transplant. Newborn screening would not only have made the diagnosis at birth but would have led to measures to protect her from becoming infected before she could receive a transplant. Newborn screening would also reveal the true incidence of SCID and define the range of conditions characterized by severely impaired T-cell development. Until screening for SCID and other T-cell defects becomes available for all neonates (either by quantifying T-cell receptor excision circles in Guthrie spots or using other tests that quantify T cells), all pediatricians should know the normal range for ALCs according to age. Recognition of the characteristic lymphopenia of SCID can facilitate early diagnosis.

  4. Applying public health screening criteria: how does universal newborn screening compare to universal tumor screening for Lynch syndrome in adults with colorectal cancer?

    PubMed

    Cragun, Deborah; DeBate, Rita D; Pal, Tuya

    2015-06-01

    Institutions have increasingly begun to adopt universal tumor screening (UTS) programs whereby tumors from all newly diagnosed patients with colorectal cancer (CRC) are screened to identify who should be offered germline testing for Lynch syndrome (the most common cause of hereditary CRC). Given limited information about the impact of universal screening programs to detect hereditary disease in adults, we apply criteria used to evaluate public health screening programs and compare and contrast UTS with universal newborn screening (NBS) for the purpose of examining ethical implications and anticipating potential outcomes of UTS. Both UTS and a core set of NBS conditions clearly meet most of the Wilson and Jungner screening criteria. However, many state NBS panels include additional conditions that do not meet several of these criteria, and there is currently insufficient data to confirm that UTS meets some of these criteria. Comparing UTS and NBS with regard to newer screening criteria raises additional issues that require attention for both UTS and NBS. Comparisons also highlight the importance of evaluating the implementation of genomic tests to ensure or improve their effectiveness at reducing morbidity and mortality while minimizing potential harms.

  5. Factors associated with parental perception of child vulnerability 12 months after abnormal newborn screening results.

    PubMed

    Tluczek, Audrey; McKechnie, Anne Chevalier; Brown, Roger L

    2011-10-01

    We identified factors associated with elevated parental perceptions of child vulnerability (PPCV) 12 months after newborn screening (NBS) of 136 children: healthy, normal results (H, n = 37), cystic fibrosis carriers (CF-C, n = 40), congenital hypothyroidism (CH, n = 36), and cystic fibrosis (CF, n = 23). Controlling for infant and parent characteristics, mixed logit structural equation modeling showed direct paths to elevated PPCV included parent female sex, CF diagnosis, and high documented illness frequency. PPCV was positively associated with maternal parenting stress. Infants with CF and CF carriers had significantly more documented illness frequency than H group infants. The CH group did not differ significantly from the H group and had no paths to PPCV. Unexpectedly high documented illness frequency among infants who are CF carriers warrants further investigation.

  6. 21 CFR 862.1055 - Newborn screening test system for amino acids, free carnitine, and acylcarnitines using tandem...

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... mass spectrometry is a device that consists of stable isotope internal standards, control materials... 21 Food and Drugs 8 2011-04-01 2011-04-01 false Newborn screening test system for amino acids... CLINICAL CHEMISTRY AND CLINICAL TOXICOLOGY DEVICES Clinical Chemistry Test Systems § 862.1055...

  7. Screening of Menkes Disease in Newborns that are likely to Benefit from Copper Treatment | NCI Technology Transfer Center | TTC

    Cancer.gov

    The Eunice Kennedy Shriver National Institute of Child Health and Human Development's (NICHD) Molecular Medicine Program is seeking statements of capability or interest from parties interested in collaborative research to further develop, or evaluate on a large-scale, population-based newborn screening for Menkes disease (also known as kinky hair disease).

  8. Neonatal newborn hearing screening: four years' experience at Ferrara University Hospital (CHEAP project): part 1.

    PubMed

    Ciorba, A; Hatzopoulos, S; Camurri, L; Negossi, L; Rossi, M; Cosso, D; Petruccelli, J; Martini, A

    2007-02-01

    The Child Hearing Early Assessment Programme (CHEAP) regional project, was a combined departmental approach (Audiology, Neonatology) of the University Hospital of Ferrara, aimed at identifying neonatal hearing impairment and defining early intervention strategies. Aims of this project have been: (i) construction of a neonatal screening programme using evoked otoacoustic emission and auditory brainstem responses; (ii) the calculation of a precise estimate of cost-benefits for every child tested; (iii) the development of an information flow instrument (database) for the storage of data and the statistical analysis of the results. The present report refers only to the results of the project related to the otoacoustic emission data from well-babies and intensive care unit residents. In the period January 2000-December 2004, 4269 full-term newborns and 654 Neonatal Intensive Care Unit babies were tested at the Neonatology Department. The cost of the Universal Neonatal Hearing Screening was estimated at Euro 9.20 per child, considering the use of the ILO-292 apparatus, and Euro 8.28 per child in the case of an automatic screener. In this screening model, the initial hardware costs can be re-iterated into budget in a period of two years, if 1000 children per year are tested.

  9. Targeted Screening of Hip Dysplasia in Newborns: Experience at a District General Hospital in Scotland

    PubMed Central

    Tyagi, Rahul; Zgoda, Marcin R.; Short, Rachel

    2016-01-01

    National Health Service Quality Improvement Scotland (NHS QIS) published a health technology scoping report in 2006 acknowledging that there are serious concerns within Scotland in relation to Developmental Dysplasia of Hip (DDH) as there is no formal screening program in place and there are significant variations between NHS boards leading to confusion for staff and parents. NHS QIS identified need for audit work to improve hip screening in Scotland. The aim of this study is review of current practice of selective screening for DDH. All newborns who had their first hip scan during one year period (2014) were included in this retrospective study and followed up until June 2015 to include any surgical intervention for dysplastic hip. Out of 428 babies (856 hip scans), abnormality was seen in 119 babies/147 hips (134 Graf 2a/2b, 10 hips were 2c and 3 hips were Graf grade 3). Average age when first scan was performed was 5 weeks (range 3 weeks to 22 weeks). Analysis of risk factors in 119 babies with abnormal scan was consistent with literature (83 breech, 12 family history, 12 HBW, 10 instability and 2 twins of breech). Twelve babies (16 hips) required treatment and were successfully treated in Pavlik harness. There was one case of missed/late dislocation, which lived in outside catchment area for 3 years since birth. During this study period there was no case of avascular necrosis or femoral nerve palsy as a result of treatment. In our experience, selective hip screening by ultrasound scan is useful in avoiding overtreatment and minimizing late presentations. PMID:27761220

  10. Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011).

    PubMed

    Verbsky, James W; Baker, Mei W; Grossman, William J; Hintermeyer, Mary; Dasu, Trivikram; Bonacci, Benedetta; Reddy, Sreelatha; Margolis, David; Casper, James; Gries, Miranda; Desantes, Ken; Hoffman, Gary L; Brokopp, Charles D; Seroogy, Christine M; Routes, John M

    2012-02-01

    Severe combined immunodeficiency is a life-threatening primary immune deficiency characterized by low numbers of naïve T cells. Early diagnosis and treatment of this disease decreases mortality. In 2008, Wisconsin began newborn screening of infants for severe combined immunodeficiency and other forms of T-cell lymphopenia by the T-cell receptor excision circle assay. In total, 207,696 infants were screened. Seventy-two infants had an abnormal assay. T-cell numbers were normal in 38 infants, abnormal in 33 infants, and not performed in one infant, giving a positive predictive value for T-cell lymphopenia of any cause of 45.83% and a specificity of 99.98%. Five infants with severe combined immunodeficiency/severe T-cell lymphopenia requiring hematopoietic stem cell transplantation or other therapy were detected. In summary, the T-cell receptor excision circle assay is a sensitive and specific test to identify infants with severe combined immunodeficiency and severe T-cell lymphopenia that leads to life-saving therapies such as hematopoietic stem cell transplantation prior to the acquisition of severe infections.

  11. Identification of a male with fragile X syndrome through newborn screening

    PubMed Central

    Famula, Jessica; Basuta, Kirin; Gane, Louise W.; Hagerman, Randi J.; Tassone, Flora

    2015-01-01

    Summary A pilot newborn screening (NBS) study for fragile X syndrome was recently conducted at the University of California, Davis Medical Center. The screening study identified a case of a male with the full mutation completely methylated and no detectable expression of the fragile X mental retardation-1 (FMR1) gene. The patient was initially seen in clinic at the MIND Institute, for medical follow-up and a genetic counseling session at the chronological age of 3 months. Since then, he has been seen in clinic every six months for follow up, medical examination and developmental assessments. Longitudinally administered developmental testing of the infant has revealed persistent delays in development, consistent with fragile X syndrome. Cascade testing revealed that the patient's mother and two siblings also have the full mutation. The patient has been receiving speech and language therapy, combined with physical and occupational therapies on a weekly basis since the age of one year. He is currently being treated with 2.5 mg of sertraline, which has been demonstrated to be helpful for improving language in young children with the syndrome. PMID:26668780

  12. IgE screening in 1701 newborn infants and the development of atopic disease during infancy.

    PubMed Central

    Croner, S; Kjellman, N I; Eriksson, B; Roth, A

    1982-01-01

    IgE screening was done using the Phadebas IgE PRIST technique on the cord blood of 1701 newborn infants. Of these 8.3% developed obvious or probable atopic disease, predominantly atopic dermatitis and bronchial asthma, during the first 18 months of life. Of infants with a family history of atopic disease 10.5% developed such illness; the corresponding figure for infants with an initially high IgE concentration was 70%. Atopic disease developed in 73% of infants with a high IgE concentration in cord blood and a family history, but in only 3% of infants with a low IgE and no family history. A high IgE concentration in cord blood was associated with a high IgE and a positive radioallergosorbent test at between ages 18 and 24 months more often than was a low initial IgE level, indicating that in man as in animals there are high and low IgE responders already genetically coded at birth. IgE screening in cord blood is recommended if there is obvious atopy in both parents or if severe atopic disease if present in a sibling or in one parent. PMID:7092292

  13. Funding decisions for newborn screening: a comparative review of 22 decision processes in Europe.

    PubMed

    Fischer, Katharina Elisabeth; Rogowski, Wolf Henning

    2014-05-19

    Decision-makers need to make choices to improve public health. Population-based newborn screening (NBS) is considered as one strategy to prevent adverse health outcomes and address rare disease patients' needs. The aim of this study was to describe key characteristics of decisions for funding new NBS programmes in Europe. We analysed past decisions using a conceptual framework. It incorporates indicators that capture the steps of decision processes by health care payers. Based on an internet survey, we compared 22 decisions for which answers among two respondents were validated for each observation. The frequencies of indicators were calculated to elicit key characteristics. All decisions resulted in positive, mostly unrestricted funding. Stakeholder participation was diverse focusing on information provision or voting. Often, decisions were not fully transparent. Assessment of NBS technologies concentrated on expert opinion, literature review and rough cost estimates. Most important appraisal criteria were effectiveness (i.e., health gain from testing for the children being screened), disease severity and availability of treatments. Some common and diverging key characteristics were identified. Although no evidence of explicit healthcare rationing was found, processes may be improved in respect of transparency and scientific rigour of assessment.

  14. Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening.

    PubMed

    Kay, Denise M; Langfelder-Schwind, Elinor; DeCelie-Germana, Joan; Sharp, Jack K; Maloney, Breanne; Tavakoli, Norma P; Saavedra-Matiz, Carlos A; Krein, Lea M; Caggana, Michele; Kier, Catherine

    2015-08-01

    Newborn screening for Cystic Fibrosis (CF) began in New York in October, 2002 using immunoreactive trypsinogen (IRT)/DNA methodology. Infants with at least one CFTR mutation or very high IRT and no mutations (VHIRT) are referred for sweat testing. In a preliminary analysis, we noted a very low positive predictive value (PPV) and preponderance of Hispanic infants in the group of infants with CF referred for VHIRT, which led to a decision to revise, but not eliminate, the VHIRT category. Automatic referral for specimens with VHIRT collected on the day of birth was eliminated, and the VHIRT threshold was raised from 0.2% to 0.1%. In this report, we describe outcomes from VHIRT referrals among 2.4 million infants screened between March 2003 and February 2013. Following the algorithm change, referrals decreased by 37.8% overall (annual mean 1,485 vs. 923), and the VHIRT PPV improved (0.6-1.0%). The number of infants diagnosed has remained consistent at 1 in 4,400 births. The proportion of Black/Hispanic/Asian/Other infants with confirmed CF, CFTR-related metabolic syndrome (CRMS), or possible CF/CRMS was 21.3% in infants with 1-2 mutations, but 75.8% in the VHIRT group. In conclusion, although the PPV among VHIRT referrals remains low, had this category never been implemented, 24 infants with confirmed CF, and 9 infants with CRMS or possible CF/CRMS, most of whom were Hispanic, would have been missed over the 10 years. Information from this study may be helpful in assessing the need for the VHIRT category and algorithm changes in other screening programs.

  15. Positive screening and carrier results for the England-wide universal newborn sickle cell screening programme by ethnicity and area for 2005–07

    PubMed Central

    Latinovic, Radoslav; Henthorn, Joan

    2010-01-01

    Aims The overall aim of the new national newborn programme is to identify infants at risk of sickle cell disease to allow early detection and to minimise deaths and complications. Methods Universal screening for sickle cell disease was introduced in England between September 2003 and July 2006. The 13 newborn laboratories each screen between 25 000 and 110 000 babies a year using the existing dried bloodspot cards. The specified conditions to be screened for include sickle cell anaemia (Hb SS), Hb SC disease, Hb S/β thalassaemia, Hb S/DPunjab and Hb S/OArab. Data are reported on screening results by ethnic group and geographical area. Results The prevalence of screen positive results across England is 1:2000. There is a 25-fold variation by geographical area. African babies make up 61% of all screen positive results despite representing only 4% of total births. Combined carrier rates vary widely by ethnicity, from 1.85 per 1000 (1:540) in ‘White British’ to 145 per 1000 (1:7) in ‘African’ babies. Refusal rates for screening show variation by ethnicity. Conclusions These results provide useful information both about the frequency of these conditions and the carrier state and their geographic and ethnic distribution across England. This can be used to refine counselling information and are also useful to target and plan services and public information. PMID:20591912

  16. Abnormal TREC-Based Newborn Screening Test in a Premature Neonate with Massive Perivillous Fibrin Deposition of the Placenta

    PubMed Central

    Kostadinov, Stefan; Robbins, Karen A.; Hayward, Anthony

    2016-01-01

    Severe combined immunodeficiency (SCID), a primary immunodeficiency arising from variable defects in lymphocyte development and survival, is characterized by significant deficiency of thymus derived (T-) lymphocytes and variable defects in the B-lymphocyte population. Newborn screening for SCID is based on detection of low numbers of T-cell receptor excision circles (TRECs) by real time quantitative PCR (RT-qPCR). This screening allows for early identification of individuals with SCID and other disorders characterized by T-lymphopenia. Higher rates of abnormal screens are commonly seen in premature and critically ill neonates, often representing false positives. It is possible that many abnormal screens seen in these populations are result of conditions that are characterized by systemic inflammation or stress, possibly in the context of stress-induced thymic involution. We present a case of a male infant delivered at 27 weeks, 6 days of gestation, with severe intrauterine growth restriction who had an abnormal TREC screen and a massive perivillous fibrin deposition (MPFD) of the placenta. This association has not been reported previously. We are raising the awareness to the fact that conditions, such as MPFD, that can create adverse intrauterine environment are capable of causing severe stress-induced thymic involution of the fetus which can present with abnormal TREC results on newborn screening. PMID:27403355

  17. Error analysis in newborn screening: can quotients support the absolute values?

    PubMed

    Arneth, Borros; Hintz, Martin

    2017-03-01

    Newborn screening is performed using modern tandem mass spectrometry, which can simultaneously detect a variety of analytes, including several amino acids and fatty acids. Tandem mass spectrometry measures the diagnostic parameters as absolute concentrations and produces fragments which are used as markers of specific substances. Several prominent quotients can also be derived, which are quotients of two absolute measured concentrations. In this study, we determined the precision of both the absolute concentrations and the derived quotients. First, the measurement error of the absolute concentrations and the measurement error of the ratios were practically determined. Then, the Gaussian theory of error calculation was used. Finally, these errors were compared with one another. The practical analytical accuracies of the quotients were significantly higher (e.g., coefficient of variation (CV) = 5.1% for the phenylalanine to tyrosine (Phe/Tyr) quotient and CV = 5.6% for the Fisher quotient) than the accuracies of the absolute measured concentrations (mean CVs = 12%). According to our results, the ratios are analytically correct and, from an analytical point of view, can support the absolute values in finding the correct diagnosis.

  18. An Update on the Use of Health Information Technology in Newborn Screening

    PubMed Central

    Abhyankar, Swapna; Goodwin, Rebecca M.; Sontag, Marci; Yusuf, Careema; Ojodu, Jelili; McDonald, Clement J.

    2015-01-01

    Newborn screening (NBS) has high-stakes health implications and requires rapid and effective communication between many people and organizations. Multiple NBS stakeholders worked together to create national guidance for reporting NBS results with HL7 (Health Level 7) messages that contain LOINC (Logical Observation Identifiers Names and Codes) and SNOMED CT (Systematized Nomenclature of Medicine--Clinical Terms) codes, report quantitative test results, and use standardized computer-readable UCUM units of measure. This guidance (a LOINC panel and an example annotated HL7 message) enables standard HL7 v2.5.1 laboratory messages to carry the information required for reporting NBS results. Other efforts include HL7 implementation guides for reporting point-of-care (POC) NBS results, as well as standardizing follow-up of patients diagnosed with conditions identified through NBS. If the guidance is used nationally, regional and national registries can aggregate results from state programs to facilitate research and quality assurance, and help ensure continuity of operations following a disaster situation. PMID:25935354

  19. CLINICAL PRACTICES FOR INTERMEDIATE/EQUIVICAL SWEAT TESTS FOLLOWING ABNORMAL CYSTIC FIBROSIS NEWBORN SCREENS

    PubMed Central

    Nelson, Megan R.; Adamski, Craig R.; Tluczek, Audrey

    2013-01-01

    Background Newborn screening (NBS) for cystic fibrosis (CF) has become standard practice in many countries. Consequently, the prevalence of infants with intermediate/equivalent sweat test results has increased. This study examined clinical practices in the United States (US) related to intermediate sweat test results subsequent to NBS. Methods Telephone surveys were conducted with staff from 77 (47% response rate) US CF centers documenting clinical practices related to intermediate/equivalent sweat chloride levels (30–59 mmol/L) following abnormal NBS. Results Thirty percent of centers followed CF Foundation guidelines for classifying intermediate/equivalent results. There was much variability in sweat testing procedures, diagnostic labels, additional diagnostics, addressing prognosis, and services offered to parents. CF center staff identified a need for resources to better address the uncertainty associated with intermediate/equivalent results. Conclusion Findings warrant evaluation of barriers to adherence with existing guidelines and establishment of internationally accepted, evidenced-based, clinical standards for infants with intermediate/equivalent CF NBS results. PMID:21855423

  20. Education and parental involvement in decision-making about newborn screening: understanding goals to clarify content.

    PubMed

    Potter, Beth K; Etchegary, Holly; Nicholls, Stuart G; Wilson, Brenda J; Craigie, Samantha M; Araia, Makda H

    2015-06-01

    A challenge in designing effective education for parents about newborn screening (NBS) has been uncertainty about appropriate content. Arguing that the goals of education may be usefully tied to parental decision-making, we sought to: (1) explore how different ways of implementing NBS differ in their approaches to parental engagement in decision-making; (2) map the potential goals of education onto these "implementation models"; and (3) consider the content that may be needed to support these goals. The resulting conceptual framework supports the availability of comprehensive information about NBS for parents, irrespective of the model of implementation. This is largely because we argue that meeting parental expectations and preferences for communication is an important goal regardless of whether or notparents are actively involved in making a decision. Our analysis supports a flexible approach, in which some educational messages are emphasized as important for all parents to understand while others are made available depending on parents' preferences. We have begun to define the content of NBS education for parents needed to support specific goals. Further research and discussion is important to determine the most appropriate strategies for delivering the tailored approach to education that emerged from our analysis.

  1. Psychosocial effects in parents and children 12 years after newborn genetic screening for type 1 diabetes.

    PubMed

    Kerruish, Nicola J; Healey, Dione M; Gray, Andrew R

    2017-04-01

    Little is known about the psychosocial consequences of testing newborns for genetic susceptibility to multifactorial diseases. This study reports quantitative psychosocial evaluations of parents and children 12 years after screening for type 1 diabetes (T1D). Two parent-child cohorts participated: children at increased genetic risk of T1D and children at low genetic risk. T1D risk status was determined at birth as part of a prospective study investigating potential environmental triggers of autoimmunity. Parent measures included ratings of children's emotional, behavioural and social functioning (Child Behaviour Checklist) and parenting style (Alabama Parenting Questionnaire). Child self-concept was assessed using the self-description questionnaire (SDQ1). Statistical analyses were conducted to test for differences between the groups. Twelve years after testing there was no evidence that knowledge of a child's increased genetic risk of T1D adversely affected parental ratings of their child's emotional, behavioural or social functioning, or impacted upon parenting style. There was no adverse effect upon the child's assessment of their self-concept. This study provides important preliminary data concerning longer-term psychosocial effects of incorporating tests for genetic risk of complex disorders into NBS panels. While it is reassuring that no significant adverse effects have been detected, more data will be required to adequately inform policy.

  2. Thyroxine values from newborn screening of 919 infants born before 29 weeks' gestation.

    PubMed Central

    Reuss, M L; Leviton, A; Paneth, N; Susser, M

    1997-01-01

    OBJECTIVES: Severe transient hypothyroxinemia in premature infants is associated with cerebral palsy and mental retardation: this study assessed its prevalence in very premature infants. METHODS: Congenital hypothyroidism screening programs in three states provided thyroxine values for 919 newborn infants younger than 29 weeks who were enrolled in a multicenter study. RESULTS: Thyroxine values were lower than 4.0 micrograms/dL in 21% of survivors and increased each week by 0.6 microgram/dL (95% confidence interval [CI] = 0.4, 0.7). At tests done 1 to 2 days after birth, levels were 2.5 micrograms/dL higher (95% CI = 1.8, 3.3) than at tests done at 8 to 14 days. In New York, levels were 1.0 microgram/dL higher (95% CI = 0.3, 1.6) than elsewhere. The levels of infants who died were 1.3 micrograms/dL lower (95% CI = 0.6, 2.0) than those of survivors. CONCLUSIONS: Severe transient hypothyroxinemia is common in very premature infants and deserves further study. PMID:9357357

  3. Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening.

    PubMed

    Whitaker, Ashley M; Thomas, Nina Hattiangadi; Krivitzky, Lauren S; Ficicioglu, Can H

    2017-01-10

    Cobalamin C (CblC) disease is the most common inborn error of cobalamin metabolism and recent data has indicated a higher prevalence among children of Hispanic heritage in particular. The purpose of this study was to (a) describe the neuropsychological characteristics of a pilot sample of Hispanic children with CblC disease and (b) explore potential differences in outcome based on underlying genetic mutation(s) and biochemical levels. Six Hispanic children (ages 2-10) diagnosed with CblC disease through newborn screening (NBS) underwent neuropsychological evaluation with a bilingual examiner. Biochemical levels and underlying mutation(s) were obtained through medical records. The overall sample performed below normative expectations across neuropsychological domains, including general cognition, adaptive functioning, language ability, and visual-motor integration. Underlying mutations and associative clinical phenotypes were found to significantly predict general cognitive abilities, while plasma methionine and Hcy at the time of diagnosis were significantly correlated with language outcomes. Despite limited sample size, results indicate that Hispanic children with CblC disease detected through NBS and treated early experience neuropsychological deficits even when treated with current standard treatments. However, consistent with prior research in non-Hispanic children with CblC disease, underlying mutations and early biochemical levels may predict better outcomes in this population as well.

  4. Factors Influencing Follow-up to Newborn Hearing Screening for Infants who are Hard-of-Hearing

    PubMed Central

    Holte, Lenore; Walker, Elizabeth; Oleson, Jacob; Spratford, Meredith; Moeller, Mary Pat; Roush, Patricia; Tomblin, J. Bruce; Ou, Hua

    2012-01-01

    Purpose To document the epidemiological characteristics of a group of hard-of-hearing children, to identify individual predictor variables for timely follow-up after a failed newborn hearing screen, and to identify barriers to follow-up encountered by families. Method An accelerated longitudinal design was used to investigate outcomes for children who are hard-of-hearing in a large multicenter study. The current study involves a subgroup of 193 of children with hearing loss who did not pass the newborn hearing screen. Available records were used to capture ages of confirmation of hearing loss, hearing aid fitting and entry into early intervention. Linear regression models were used to investigate relationships among individual predictor variables and age at each follow-up benchmark. Results Of several predictor variables, only higher levels of maternal education were significantly associated with earlier confirmation of hearing loss and fitting of hearing aids. Severity of hearing loss was not. No variables were significantly associated with age of entry into early intervention. Each recommended benchmark was met by a majority of children, but only one-third met all of the benchmarks within the recommended time frame. Conclusions Results suggest that underserved communities need extra support in navigating steps that follow failed newborn hearing screening. PMID:22585937

  5. Case of hepatocellular carcinoma in a patient with hereditary tyrosinemia in the post-newborn screening era

    PubMed Central

    Imseis, Essam M; Bynon, John S; Thornhill, Chad

    2017-01-01

    Hereditary tyrosinemia type 1 (HT-1) is a metabolic disorder caused by a defect in tyrosine degradation. Without treatment, symptoms of hepatomegaly, renal tubular dysfunction, growth failure, neurologic crises resembling porphyrias, rickets and possible hepatocellular carcinoma can develop. The use of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione and early diagnosis through newborn screening initiatives have resulted in a sharp decline in morbidity and mortality associated with this disease. We present a case report of a 7-year-old patient with HT-1 who was born prior to the addition of tyrosinemia to the newborn screening in her birth area. At her time of diagnosis, the patient had developed many of the symptoms associated with her disease, including chronic kidney disease, rickets, and myopathy that left her non-ambulatory. During her initial evaluation, she was also noted to have hepatocellular carcinoma. With cadaveric liver transplantation and nutritional support, her symptoms all either resolved or stabilized. Her case illustrates the severity of the disease if left untreated, the need for vigilance in populations who do not routinely receive newborn screens, and the markedly improved outcomes in patients following transplant.

  6. An approach to family-centered coordinated co-management for individuals with conditions identified through newborn screening.

    PubMed

    Cooley, W Carl; Kemper, Alex R

    2013-03-01

    The care of individuals with rare heritable conditions, such as those detectable through newborn screening, is an important target for quality improvement. Not only is there great opportunity to improve long-term outcomes, but there are lessons that can be generalized to the care of all children with special health-care needs. To identify an approach to quality improvement for individuals with conditions identified through newborn screening, the National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives convened an expert workgroup to develop strategies based on a family-centered, community-based system of care. These recommendations centered on involving families, the primary care medical home, and specialty care providers as equal partners. Key activities to improve care include explicit care coordination, identification of the location of management, and planned co-management. To implement this model of care, the Regional Collaboratives will develop a clearinghouse of tools, engage in activities to evaluate the effectiveness of interventions to improve co-management, and identify strategies to align incentives for health-care providers and families to work together.

  7. Linkage approach and direct COL4A5 gene mutation screening in Alport syndrome

    SciTech Connect

    Turco, A.E.; Rossetti, S.; Biasi, O.

    1994-09-01

    Alport Syndrome (AS) is transmitted as an X-linked dominant trait in the majority of families, the defective gene being COL4A5 at Xq22. In the remaining cases AS appears to be autosomally inherited. Recently, mutations in COL4A3 and COL4A4 genes at 2q35-q37 were identified in families with autosomal recessive AS. Mutation detection screening is being performed by non-radioactive single stand conformation polymorphism (SSCP), heteroduplex analysis, and automated DNA sequencing in over 170 AS patients enrolled in the ongoing Italian Multicenter Study on AS. So far twenty-five different mutations have been found, including missense, splicing, and frameshifts. Moreover, by using six tightly linked COL4A5 informative makers, we have also typed two larger AS families, and have shown compatible sex-linked transmission in one other, suggesting autosomal recessive inheritance. In this latter three-generation COL4A5-unlinked family we are now looking for linkage and for mutations in the candidate COL4A3 and COL4A4 genes on chromosome 2q.

  8. DRIED BLOOD SPOT REAL-TIME POLYMERASE CHAIN REACTION ASSAYS TO SCREEN NEWBORNS FOR CONGENITAL CYTOMEGALOVIRUS INFECTION

    PubMed Central

    Boppana, Suresh B.; Ross, Shannon A.; Novak, Zdenek; Shimamura, Masako; Tolan, Robert W.; Palmer, April L.; Ahmed, Amina; Michaels, Marian G.; Sánchez, Pablo J.; Bernstein, David I.; Britt, William J.; Fowler, Karen B.

    2010-01-01

    Context Reliable methods to screen newborns for congenital cytomegalovirus (CMV) infection are needed for identification of infants at increased risk for hearing loss. Since dried blood spots (DBS) are routinely collected for metabolic screening from all newborns in the United States, there has been interest in using DBS polymerase chain reaction (PCR)-based methods for newborn CMV screening. Objective To determine the diagnostic accuracy of DBS real-time PCR assays for newborn CMV screening Design, Setting, and Participants Between March 2007 and May 2008, infants born at seven medical centers in the U.S. were enrolled in the CMV and Hearing Multicenter Screening (CHIMES) study. Newborn saliva specimens were tested for the detection of early antigen fluorescent foci (DEAFF). Results of saliva DEAFF were compared with a single-primer (from 03/07 to 12/07) and a two-primer (from 01/08 to 05/08) DBS real-time PCR. Infants positive by screening DEAFF or PCR were enrolled in follow-up to confirm congenital infection by the reference standard method, DEAFF on saliva or urine. Main Outcome Measures Sensitivity, specificity and positive and negative likelihood ratios (LRs) of single-primer and two-primer DBS real-time PCR assays for identifying infants with confirmed congenital CMV infection. Results Congenital CMV infection was confirmed in 92 of 20,448 (0.45%; 95% CI, 0.36–0.55) infants. Ninety-one of 92 infants were saliva DEAFF positive on screening. Of the 11,422 infants screened using the single-primer DBS PCR, 17 of 60 (28%) infants were positive with this assay, whereas, among the 9,026 infants screened using the two-primer DBS PCR, 11 of 32 (34%) infants were positive. The single-primer DBS PCR identified congenital CMV infection with a sensitivity of 28.3% (95% CI, 17.4–41.4%), specificity, 99.9% (95% CI, 99.9–100%), positive LR, 803.7 (95% CI, 278.7–2317.9), and negative LR, 0.7 (95% CI, 0.6–0.8). The positive and negative predictive values of the

  9. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.

    PubMed

    Koeberl, Dwight D; Young, Sarah P; Gregersen, Niels S; Vockley, Jerry; Smith, Wendy E; Benjamin, Daniel Kelly; An, Yan; Weavil, Susan D; Chaing, Shu H; Bali, Deeksha; McDonald, Marie T; Kishnani, Priya S; Chen, Y-T; Millington, David S

    2003-08-01

    Tandem mass spectrometry was adopted for newborn screening by North Carolina in April 1999. Since then, three infants with short-chain acyl-CoA dehydrogenase (SCAD) and one with isobutyryl-CoA dehydrogenase deficiency were detected on the basis of elevated butyrylcarnitine/isobutyrylcarnitine (C4-carnitine) concentrations in newborn blood spots analyzed by tandem mass spectrometry. For three SCAD-deficient infants, biochemical evaluation included a plasma acylcarnitine profile with markedly elevated C4-carnitine, urine organic acid analysis with markedly elevated ethylmalonic and 2-methylsuccinic acids, and markedly elevated [U-13C]butyrylcarnitine concentrations in medium from fibroblasts incubated with [U-13C]palmitic acid and excess l-carnitine, consistent with classic SCAD deficiency. Two of three infants diagnosed with classic SCAD deficiency remained asymptomatic; however, the third infant presented with seizures and a cerebral infarct at 10 wk of age. All three infants had putatively inactivating mutations in both alleles of the SCAD gene. The highly elevated plasma C4-carnitine levels in the three infants detected by newborn screening tandem mass spectrometry differentiated them from infants and children who were homozygous or compound heterozygous for one of two SCAD gene susceptibility variations; for the latter group the C4-carnitine levels were normal. Isobutyryl-CoA dehydrogenase deficiency in a fourth infant was confirmed after isolated elevation of C4-carnitine in the acylcarnitine profile.

  10. GJB2-associated hearing loss undetected by hearing screening of newborns.

    PubMed

    Minami, Shujiro B; Mutai, Hideki; Nakano, Atsuko; Arimoto, Yukiko; Taiji, Hidenobu; Morimoto, Noriko; Sakata, Hideaki; Adachi, Nodoka; Masuda, Sawako; Sakamoto, Hirokazu; Yoshida, Haruo; Tanaka, Fujinobu; Morita, Noriko; Sugiuchi, Tomoko; Kaga, Kimitaka; Matsunaga, Tatsuo

    2013-12-10

    The hearing loss caused by GJB2 mutations is usually congenital in onset, moderate to profound in degree, and non-progressive. The objective of this study was to study genotype/phenotype correlations and to document 14 children with biallelic GJB2 mutations who passed newborn hearing screening (NHS). Genetic testing for GJB2 mutations by direct sequencing was performed on 924 individuals (810 families) with hearing loss, and 204 patients (175 families) were found to carry biallelic GJB2 mutations. NHS results were obtained through medical records. A total of 18 pathological mutations were identified, which were subclassified as eight inactivating and 10 non-inactivating mutations. p.I128M and p.H73Y were identified as novel missense GJB2 mutations. Of the 14 children with biallelic GJB2 mutations who passed NHS, eight were compound heterozygotes and 3 were homozygous for the c.235delC mutation in GJB2, and the other three combinations of non-c.235delC mutations identified were p.Y136X-p.G45E/p.V37I heterozygous, c.512ins4/p.R143W heterozygous, and p.V37I/p.R143W heterozygous. These 14 cases demonstrate that the current NHS does not identify all infants with biallelic GJB2 mutations. They suggest that the frequency of non-penetrance at birth is approximately 6.9% or higher in DFNB1 patients and provide further evidence that GJB2 hearing loss may not always be congenital in onset.

  11. Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing

    PubMed Central

    Joseph, Galen; Chen, Flavia; Harris-Wai, Julie; Puck, Jennifer M.; Young, Charlotte; Koenig, Barbara A.

    2016-01-01

    BACKGROUND AND OBJECTIVE The potential application of whole-genome sequencing (WGS) to state-mandated standard newborn screening (NBS) challenges the traditional public health approach to NBS and raises ethical, policy, and clinical practice issues. This article examines the perspectives and values of diverse healthy pregnant women and parents of children diagnosed with a primary immunodeficiency disorder about traditional NBS and expanded NBS with the use of WGS. METHODS We conducted 4 focus groups (3 in English and 1 in Spanish) with socioeconomically and ethnically diverse pregnant women (n = 26), and a comparison group with parents of children diagnosed with a primary immunodeficiency disorder (n = 5). RESULTS Pediatric policy–relevant themes that emerged from our analysis of the focus group data are presented within 4 categories: (1) perspectives on traditional NBS, (2) informed consent, (3) return of results, and (4) storage and retrieval of results. Analyses indicate that study participants desired greater inclusion in the NBS process. Despite an optimistic orientation to the potential benefits and limited harms likely to result from genomic applications of NBS, parents voiced concerns about privacy and control over test results. Limited trust in the medical system and the state-run NBS program informed these concerns. CONCLUSIONS Expanded NBS with WGS for pediatricians may require management of more genetic conditions, including mutations that convey risk to both the child and parents for adult-onset disorders, and an informed-consent process to manage the genomic data and storage of blood spots. Attention to how these technologies are understood in diverse populations is needed for effective implementation. PMID:26729702

  12. [A clinical study on 106 infant cases who received detailed hearing tests after newborn hearing screening].

    PubMed

    Okano, Takayuki; Iwai, Noriko; Taniguchi, Mirei; Ito, Juichi

    2014-10-01

    Newborn hearing screening (NHS) has been conducted widely in Japan in the last decade, however, there seems to be some confusion regarding the significance of NHS or management of the results obtained from NHS among clinics and practitioners. The system of NHS in Japan should be improved and refined through continuous evaluation of NHS, in terms of cost effectiveness in particular, so that NHS can be conducted more efficiently and effectively. To achieve this goal, the authors thought it important to clarify the current status and roles of our department as a facility for infants with congenital hearing impairment. In the present study, we studied 106 infant cases who were referred to the Department of Otolaryngology in Kyoto University Hospital after NHS before the age of twelve months in a period of seven years from 2006 to 2012 via retrospective chart reviewing. 79.2% of 96 infants who were qualified as referred either unilaterally or bilaterally following NHS were diagnosed as having hearing impairment in any form, either unilateral or bilateral, or conductive and/or sensorineural. The positive agreement rate was 88.7% in 53 cases who were qualified as referred bilaterally in NHS, demonstrating a high reliability of the NHS system. Twenty-four cases were diagnosed as having the need for hearing aids and were assigned to treatment and education. All the infants who underwent cochlear implantation in our department had severe bilateral hearing impairment of more than 105 dBnHL in both ears at the first examination. Moreover, a number of infants who were qualified as having passed in both ears in NHS or who had failed to receive NHS at birth were revealed as having hearing impairment and needed treatment later in the first year of their life, suggesting that NHS should be conducted in combination with periodical health checkups by family practitioners in order to identify infants with hearing impairment earlier in their life with higher efficacy.

  13. Inborn errors of metabolism and expanded newborn screening: review and update.

    PubMed

    Mak, Chloe Miu; Lee, Han-Chih Hencher; Chan, Albert Yan-Wo; Lam, Ching-Wan

    2013-11-01

    Inborn errors of metabolism (IEM) are a phenotypically and genetically heterogeneous group of disorders caused by a defect in a metabolic pathway, leading to malfunctioning metabolism and/or the accumulation of toxic intermediate metabolites. To date, more than 1000 different IEM have been identified. While individually rare, the cumulative incidence has been shown to be upwards of 1 in 800. Clinical presentations are protean, complicating diagnostic pathways. IEM are present in all ethnic groups and across every age. Some IEM are amenable to treatment, with promising outcomes. However, high clinical suspicion alone is not sufficient to reduce morbidities and mortalities. In the last decade, due to the advent of tandem mass spectrometry, expanded newborn screening (NBS) has become a mandatory public health strategy in most developed and developing countries. The technology allows inexpensive simultaneous detection of more than 30 different metabolic disorders in one single blood spot specimen at a cost of about USD 10 per baby, with commendable analytical accuracy and precision. The sensitivity and specificity of this method can be up to 99% and 99.995%, respectively, for most amino acid disorders, organic acidemias, and fatty acid oxidation defects. Cost-effectiveness studies have confirmed that the savings achieved through the use of expanded NBS programs are significantly greater than the costs of implementation. The adverse effects of false positive results are negligible in view of the economic health benefits generated by expanded NBS and these could be minimized through increased education, better communication, and improved technologies. Local screening agencies should be given the autonomy to develop their screening programs in order to keep pace with international advancements. The development of biochemical genetics is closely linked with expanded NBS. With ongoing advancements in nanotechnology and molecular genomics, the field of biochemical genetics

  14. Trypanosoma cruzi seroprevalence in pregnant women and screening by PCR and microhaematocrit in newborns from Guanajuato, Mexico.

    PubMed

    Montes-Rincón, Laura Mayela; Galaviz-Silva, Lucio; González-Bravo, Francisco Ernesto; Molina-Garza, Zinnia Judith

    2016-12-01

    Chagas disease is caused by an infection with the protozoan hemoflagellate Trypanosoma cruzi, and it is a major endemic health problem in Latin America. The congenital route is one of the main non-vectorial pathways of transmission, which can arise either in the chronic or acute phase of maternal infection. Serological screening of T. cruzi infection was performed in 520 pregnant women and newborns at the Hospital General Regional de León, Guanajuato, Mexico, between 2014 and 2015. Anti-T. cruzi antibodies were detected in 20 mothers (4%) by ELISA and HIA with four PCR-positive newborn cases. Risk factors were identified according to an epidemiological survey, and the most significant (P<0.050) factors associated with T. cruzi infection were the building materials of dwellings, the presence of pets and dwellings located in rural areas. This study constitutes the first systematic study on congenital Chagas disease and the epidemiological risk factors in Guanajuato. Our results represent the probability of an incidence of 770 cases per 100,000 births during a period of 12 months, with a vertical transmission rate by 0.8%, which highlights the necessity to establish reliable serological and PCR tests in pregnant women to prevent vertical transmission. However, it is also important to follow-up the newborns from seropositive mothers for one year, which is necessary, as many children yielded negative results.

  15. Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort

    PubMed Central

    Chang, Ruey-Kang R.; Lan, Yueh-Tze; Silka, Michael J.; Morrow, Hallie; Kwong, Alan; Smith-Lang, Janna; Wallerstein, Robert; Lin, Henry J.

    2014-01-01

    Objectives Autosomal recessive long QT syndrome (LQTS), or Jervell and Lange-Nielsen syndrome (JLNS), can be associated with sensorineural hearing loss (SNHL). We aimed to explore newborn hearing screening combined with ECGs for early JLNS detection. Study design We conducted California statewide, prospective ECG screening of children ≤6 years of age with unilateral or bilateral, severe or profound, sensorineural or mixed hearing loss. Families were identified through newborn hearing screening and interviewed about medical and family histories. Twelve-lead ECGs were obtained. Those with positive histories or QTc intervals ≥450 ms had repeat ECGs. DNA sequencing of 12 LQTS genes was performed for repeat QTc intervals ≥450 ms. Results We screened 707 subjects by ECGs (number screened/number of responses = 91%; number of responses/number of families who were mailed invitations = 54%). Of these, 73 had repeat ECGs, and 19 underwent gene testing. No subject had homozygous or compound heterozygous LQTS mutations, as in JLNS. However, 3 individuals (with QTc intervals of 472, 457, and 456 ms, respectively) were heterozygous for variants that cause truncation or missplicing: 2 in KCNQ1 (c.1343dupC or p.Glu449Argfs*14; c.1590+1G>A or p.Glu530sp) and 1 in SCN5A (c.5872C>T or p.Arg1958*). Conclusions In contrast to reports of JLNS in up to 4% of children with SNHL, we found no examples of JLNS. Because the 3 variants identified were unrelated to hearing, they likely represent the prevalence of potential LQTS mutations in the general population. Further studies are needed to define consequences of such mutations and assess the overall prevalence. PMID:24388587

  16. Surface-enhanced Raman scattering (SERS) for detection of phenylketonuria for newborn screening

    NASA Astrophysics Data System (ADS)

    Javanmard, M.; Davis, R. W.

    2014-02-01

    Diagnosis of Phenylketonuria (PKU) in newborns is important because it can potentially help prevent mental retardation since it is treatable by dietary means. PKU results in phenylketonurics having phenylalanine levels as high as 2 mM whereas the normal upper limit in healthy newborns is 120 uM. To this end, we are developing a microfluidic platform integrated with a SERS substrate for detection of high levels of phenylalanine. We have successfully demonstrated SERS detection of phenylalanine using various SERS substrates fabricated using nanosphere lithography, which exhibit high levels of field enhancement. We show detection of SERS at clinically relevant levels.

  17. Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.

    PubMed

    Pedersen, Christina B; Bischoff, Claus; Christensen, Ernst; Simonsen, Henrik; Lund, Allan M; Young, Sarah P; Koeberl, Dwight D; Millington, David S; Roe, Charles R; Roe, Diane S; Wanders, Ronald J A; Ruiter, Jos P N; Keppen, Laura D; Stein, Quinn; Knudsen, Inga; Gregersen, Niels; Andresen, Brage S

    2006-09-01

    The isobutyryl-CoA dehydrogenase (IBD) enzyme is involved in the degradation of valine. IBD deficiency was first reported in 1998 and subsequent genetic investigations identified acyl-CoA dehydrogenase (ACAD) 8, now IBD, as the gene responsible for IBD deficiency. Only three individuals homozygous or compound heterozygous for variations in the IBD gene have been reported. We present IBD deficiency in an additional four newborns with elevated C(4)-carnitine identified by tandem mass spectrometry (MS/MS) screening in Denmark and the United States. Three showed urinary excretions of isobutyryl-glycine, and in vitro probe analysis of fibroblasts from two newborns indicated enzymatic IBD defect. Molecular genetic analysis revealed seven new rare variations in the IBD gene (c.348C>A, c.400G>T, c.409G>A, c.455T>C, c.958G>A, c.1000C>T and c.1154G>A). Furthermore, sequence analysis of the short-chain acyl-CoA dehydrogenase (SCAD) gene revealed heterozygosity for the prevalent c.625G>A susceptibility variation in all newborns and in the first reported IBD patient. Functional studies in isolated mitochondria demonstrated that the IBD variations present in the Danish newborn (c.409G>A and c.958G>A) together with a previously published IBD variation (c.905G>A) disturbed protein folding and reduced the levels of correctly folded IBD tetramers. Accordingly, low/no IBD residual enzyme activity was detectable when the variant IBD proteins were overexpressed in Chang cells.

  18. The Effect of Mode of Delivery and Hospital Type on Newborn Hearing Screening Results Using Otoacoustic Emissions: Based on Screening Age.

    PubMed

    Farahani, Farhad; Hamidi Nahrani, Morteza; Seifrabiei, Mohammad Ali; Emadi, Maryam

    2017-03-01

    It is well known that false positive on newborn hearing screening increases cost and maternal anxiety and worry. We aimed to evaluate the influence of mode of delivery (cesarean, vaginal) and hospital type (private, public) on false positives first screening test based on screening age. Identification and control of these factors can reduce the rate of false positives. Overall, 2784 infants were evaluated by otoacoustic emissions test. Hearing screening test was performed before hospital discharge. Finally, rate of the false-positive between both delivery group and hospital types were compared on the basis of screening age. False-positive results are obtained when a condition is not present, but the test results indicate that it is present. False positive rate in the first screening test in vaginal delivery was significantly higher than cesarean delivery and rate of significantly decreased with screening age. This reduction was observed only in cesarean delivery. Also the rate of false positives in public hospital is 2.2 fold higher than private hospital (P = 0.000) and with increase in screening age, the rate of False positive is significantly reduced in private hospitals while this decrease is not observed in public hospital. Screening test be retarded as much as possible in cesarean group and private hospital and be conducted just prior to hospital discharge also in public hospital, screening test are done in a separate room. In this way, false positive can be reduced by about six times and the cost and concerns imposed by the rate of false positives minimized.

  19. Evolution and Escalation of an Emergency Department Routine, Opt-out HIV Screening and Linkage-to-Care Program

    PubMed Central

    Willig, James H.; Rodgers, Joel B.; Donnelly, John P.; Westfall, Andrew O.; Ross-Davis, Kelly L.; Heath, Sonya L.

    2016-01-01

    Objective The Centers for Disease Control and Prevention has recommended emergency department (ED) opt-out HIV screening since 2006. Routine screening can prove challenging due to the ED's complexity and competing priorities. This study examined the implementation and evolution of a routine, integrated, opt-out HIV screening program at an urban academic ED in Alabama since August 2011. Methods ED routine, opt-out HIV screening was implemented as a standard of care in September 2011. To describe the outcomes and escalation of the screening program, data analyses were performed from three separate data queries: (1) encounter-level HIV screening questionnaire and test results from September 21, 2011, through December 31, 2013; (2) test-level, fourth-generation HIV results from July 9 through December 31, 2013; and (3) daily HIV testing rates and trends from September 9, 2011, through June 30, 2014. Results Of the 46,385 HIV screening tests performed, 252 (0.5%) were confirmed to be positive. Acute HIV infection accounted for 11.8% of all HIV patients identified using the fourth-generation HIV screening assay. Seventy-six percent of confirmed HIV-positive patients had successful linkage to care. Implementation of fourth-generation HIV instrument-based testing resulted in a 15.0% decline in weekly HIV testing rates. Displacement of nursing provider HIV test offers from triage to the bedside resulted in a 31.6% decline in weekly HIV testing rates. Conclusion This program demonstrated the capacity for high-volume, routine, opt-out HIV screening. Evolving ED challenges require program monitoring and adaptation to sustain scalable HIV screening in EDs. PMID:26862235

  20. Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.

    PubMed

    Chien, Yin-Hsiu; Lee, Ni-Chung; Chiang, Shu-Chuan; Desnick, Robert J; Hwu, Wuh-Liang

    2012-07-18

    Fabry disease is a panethnic, X-linked, inborn error of glycosphingolipid metabolism resulting from mutations in the α-galactosidase A gene (GLA) that lead to the deficient activity of the lysosomal enzyme, α-galactosidase A (α-Gal A). Affected males with no α-Gal A activity have the early-onset classic phenotype, whereas those with residual activity present with the later-onset subtype. Recently, we reported that newborn enzyme-based screening using dried blood spots (DBS) in Taiwan revealed a high incidence of newborn males who had the GLA c.936+919G→A (IVS4+919G→A) mutation. This lesion causes cryptic splicing, markedly reducing the amount of wild-type GLA mRNA, and has been found in males with the later-onset Fabry phenotype, manifesting as cardiac, renal and/or cerebrovascular disease. To more accurately determine the incidence of the IVS4+919G→A mutation, 20,063 consecutive newborns were screened by a deoxyribonucleic acid (DNA)-based assay. Of the 10,499 males, 12 (1/875) and 24 of the 9,564 females (1/399) had the mutation. On the basis of these frequencies, the previous newborn enzyme-based DBS screening (cutoff: <30% of the normal mean) only identified 67% and 17% of mutation-positive males and females, respectively. The mean DBS α-Gal A activities in the mutation-positive males and females were 23% (1.54 U) and 55% (3.63 U) of normal mean male/female values, respectively. These studies confirm the high incidence of the IVS4+919G→A mutation in the Taiwanese population and indicate that its detectability by enzyme-based DBS screening is unreliable, especially in females. These studies emphasize the superiority of DNA-based newborn screening for common mutations, particularly for X-linked diseases.

  1. Effects of sterilizing gamma irradiation on bloodspot newborn screening tests and whole blood cyclosporine and tacrolimus measurements.

    PubMed

    Stickle, Douglas F; McKenzie, David A; Landmark, James D; Pirruccello, Samuel J; Post, Gregory R; Iwen, Peter C; Thompson, Robert B; Hinrichs, Steven H

    2003-02-01

    Sterilizing irradiation of the US mail has been proposed as a method to prevent delivery of viable anthrax spores. Because newborn screening samples (bloodspots) and cyclosporine and tacrolimus specimens (whole blood) are delivered routinely through the mail, we studied whether sterilizing gamma irradiation could affect these test results. Specimens were exposed to 18 kGy gamma irradiation (100 hours x 18,000 rad/h), a "kill dose" for Bacillus pumilus spore strips. Irradiation had no significant effect on whole blood cyclosporine or tacrolimus results, but it had a degradative effect on bloodspot phenylalanine, hemoglobins, biotinidase, galactose-1-phosphate uridyltransferase, thyroxine, and thyrotropin. Such irradiation potentially could cause false-negative results for the detection of phenylketonuria and likely would lead to an increase in secondary testing for hemoglobin variants, but it is unlikely to lead to false-negative or false-positive results for the remaining newborn screening tests. These experiments cannot rule out possible greater effects by larger doses or other types of irradiation.

  2. Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I

    PubMed Central

    Blanchard, Sophie; Sadilek, Martin; Scott, C. Ronald; Turecek, Frantisek; Gelb, Michael H.

    2008-01-01

    Background Treatments now available for Mucopolysaccharidosis I require early detection for optimum therapy. Therefore, we have developed an assay appropriate for newborn screening of the activity of the relevant enzyme, α-l-iduronidase. Methods We synthesized a new α-l-iduronidase substrate that can be used to assay the enzyme by use of tandem mass spectrometry together with an internal standard. The assay uses a dried blood spot on a newborn screening card as the enzyme source. The assay protocol uses a simple liquid-liquid extraction step prior to mass spectrometry. We optimized enzyme reaction conditions and procedures for the assay, including the concentration of substrate, the reaction pH, the incubation time, and mass spectrometer operation. We also assessed inter- and intra-assay imprecision. Results When the assay was tested on dried blood spots, the α-l-iduronidase activity measured for 5 patients with Mucopolysaccharidosis I was well below the interval found for 10 randomly chosen newborns. Inter- and intra-assay imprecision were less than 10 %. The synthesis of the α-l-iduronidase substrate is practical on a scale needed to support newborn screening demands. Conclusions This newly developed tandem mass spectrometry assay has the potential to be adopted for newborn screening of Mucopolysaccharidosis I. It presents advantages compared to the one previously published from this laboratory and has the potential to be performed in a multiplex fashion with several lysosomal enzymes relevant to treatable lysosomal storage diseases. PMID:19042989

  3. Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme.

    PubMed

    Kemper, E A; Boelen, A; Bosch, A M; van Veen-Sijne, M; van Rijswijk, C N; Bouva, M J; Fingerhut, R; Schielen, P C J I

    2017-01-01

    Newborn screening for classical galactosemia in the Netherlands is performed by five laboratories and is based on the measurement of galactose 1-phosphate-uridyltransferase (GALT) activity and total galactose (TGAL) in heel prick blood spots. Unexpected problems with the GALT assay posed a challenge to switch to a new assay. The aim of this study was to make an analytical and clinical evaluation of GALT assays to replace the current assay and to establish new cut-off values (COVs).First, the manual assay from PerkinElmer (NG-1100) and the GSP assay were compared by analyzing 626 anonymous heel prick samples in parallel. Secondly, a manual GSP method was evaluated and 2,052 samples were compared with the automated GSP assay. Finally, a clinical evaluation was performed by collecting data from 93 referred newborns.No satisfactory correlation was observed between GALT activity measured with the manual NG-1100 assay and the automated GSP assay. An acceptable correlation was found between the manual and automated GSP assay. Intra- and inter-assay variation of the automated GSP were 1.8-10.0% and 3.1-13.9%, respectively. Evaluation of clinical data demonstrated that adjusting the COVs for GALT to 2.0 U/dl and TGAL to 1,100 μmol/l improved specificity of screening for classical galactosemia.An assay designed for automated processing to measure GALT activity in heel prick samples works equally well when processed manually. We therefore adopted both methods in the Dutch screening laboratories. As a result of this evaluation new COVs for GALT and TGAL have been introduced and are valid from July 2015.

  4. Cost-Effectiveness of Community-Based TB/HIV Screening and Linkage to Care in Rural South Africa

    PubMed Central

    Gilbert, Jennifer A.; Shenoi, Sheela V.; Moll, Anthony P.; Friedland, Gerald H.; Paltiel, A. David; Galvani, Alison P.

    2016-01-01

    South Africa has one of the highest burdens of TB worldwide, driven by the country’s widespread prevalence of HIV, and further complicated by drug resistance. Active case finding within the community, particularly in rural areas where healthcare access is limited, can significantly improve diagnosis and treatment coverage in high-incidence settings. We evaluated the potential health and economic consequences of implementing community-based TB/HIV screening and linkage to care. Using a dynamic model of TB and HIV transmission over a time horizon of 10 years, we compared status quo TB/HIV control to community-based TB/HIV screening at frequencies of once every two years, one year, and six months. We also considered the impact of extending IPT from 36 months for TST positive and 12 months for TST negative or unknown patients (36/12) to lifetime use for all HIV-infected patients. We conducted a probabilistic sensitivity analysis to assess the effect of parameter uncertainty on the cost-effectiveness results. We identified four strategies that saved the most life years for a given outlay: status quo TB/HIV control with 36/12 months of IPT and TB/HIV screening strategies at frequencies of once every two years, one year, and six months with lifetime IPT. All of these strategies were very cost-effective at a threshold of $6,618 per life year saved (the per capita GDP of South Africa). Community-based TB/HIV screening with linkage to care is therefore very cost-effective in rural South Africa. PMID:27906986

  5. Newborn Critical Congenital Heart Disease Screening Using Pulse Oximetry: Nursing Aspects.

    PubMed

    Hom, Lisa A; Martin, Gerard R

    2016-09-01

    Congenital heart disease (CCHD) is the most common birth defect. Screening for the most critical forms (CCHD) using pulse oximetry was added to the Recommended Uniform Screening Panel in the United States in 2011. Since then, CCHD screening has become nearly universal in the United States. Nurses are ideally situated to contribute to the development of best practices for implementation and provide education to families on CCHD screening. Much of the standardization, advocacy, and development of national recommendations occurred with key input from nurses. Nurses often have responsibility for educating parents, performing the screening, interpreting the screening algorithm, and the documentation of results. The nurse role often includes implementing follow-up quality improvement initiatives to ensure that systematic and accurate screening occurs. Smooth implementation can be achieved by identifying champions early, obtaining input from a multidisciplinary team including both physician and nursing leaders, and identifying ways to integrate screening into already existing workflow. By knowing the basics of why screening is important, how to screen, current recommendations on the follow-up for positive screens and the limitations of CCHD screening, nurses can advocate for their patients and positively impact outcomes for infants born with CCHD through early identification before discharge.

  6. Rapid HIV Screening in an Urban Jail: How Testing at Exit With Linkage to Community Care Can Address Perceived Barriers.

    PubMed

    Simonsen, Kari A; Shaikh, Raees A; Earley, Mary; Foxall, Mark; Boyle, Cole; Islam, K M; Younger, Heather; Sandkovsky, Uriel; Berthold, Elizabeth; Margalit, Ruth

    2015-12-01

    Despite recommendations from the CDC, only 36 % of jails offer routine HIV screening to inmates. Our purpose was to explore the feasibility of rapid HIV testing at release from an urban jail, and to identify potential barriers to this process. This project was incorporated into an established partnership between the jail, local academic medical center, and local public health department. We offered rapid HIV testing at the time of release to 507 jail inmates over a 7 week period of 2013. Three hundred and two (60 %) inmates elected testing. All participating inmates received individual test counseling, HIV prevention education, and linkage to care in the community prior to release. All tested inmates received results before release; one inmate screened positive for HIV and was linked to care. Previous HIV testing was the most frequently cited reason given (60 %) among the 205 inmates who declined at the time of the study. Utilizing the partnership between the jail, public health, and an academic medical center, we found that rapid HIV testing at exit was feasible and acceptable in this urban jail setting and could provide immediate linkage to care for those in need.

  7. The potential of electrospray ionization mass spectrometry for the diagnosis of hemoglobin variants found in newborn screening.

    PubMed

    Wild, B J; Green, B N; Stephens, A D

    2004-01-01

    Analytical procedures have been developed for the detection and diagnosis of sickle cell disease in newborn babies by analyzing the hemoglobin extracted from dried blood spots on Guthrie cards using electrospray ionization mass spectrometry (ESI-MS). An essential requirement is the ability to reliably differentiate two globin chains whose molecular weights differ by only 1 Da such as adult hemoglobin (Hb A) and Hb C. This has been achieved by improving the accuracy and precision of the molecular weight determination to a fraction of a dalton. We report the potential of mass spectrometry for screening neonates for these debilitating diseases by presenting results from 147 blood spots that had been characterized by phenotypic methods and which include samples from 20 sickle cell disease, 1 beta-thalassemia major, 57 sickle cell trait, and 39 normal babies. In all cases, the mass spectrometric results agreed with the results obtained using conventional analytical practice with high-performance liquid chromatography (HPLC) and isoelectric focusing (IEF). We show that mass spectrometry is a viable technique for the diagnosis of newborns with sickle cell disease or homozygous beta0-thalassemia.

  8. Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.

    PubMed

    Kunz, Joachim B; Awad, Saida; Happich, Margit; Muckenthaler, Lena; Lindner, Martin; Gramer, Gwendolyn; Okun, Jürgen G; Hoffmann, Georg F; Bruckner, Thomas; Muckenthaler, Martina U; Kulozik, Andreas E

    2016-02-01

    Children with sickle cell disease (SCD) benefit from newborn screening, because life-threatening complications can be prevented by pre-symptomatic diagnosis. In Germany, the immigration of people from endemic countries is steadily growing. Comprehensive data about the epidemiology and prevalence of SCD in Germany are however lacking, and SCD is not included in the national newborn screening program. We provide data on the prevalence of SCD in a population from both urban and rural areas in Southwest Germany. Anonymized dried blood spots from 37,838 unselected newborns were analyzed by allele-specific PCR for the HbS mutation. Samples tested positive were subjected to Sanger sequencing of the entire β-globin coding sequence firstly to validate the screening and secondly to identify compound heterozygous SCD patients with other mutations of the β-globin gene. We identified 83 carriers of the sickle cell trait, three compound heterozygous SCD patients (two with sickle cell-β-thalassemia, one with sickle cell-Hb Tianshui) but no homozygous SCD patients. The novel molecular method and strategy for newborn screening for SCD presented here compares favorably in terms of sensitivity (1.0 for homozygous HbS, 0.996 for heterozygous HbS), specificity (0.996), practicability, and costs with conventional biochemical screening. Our results demonstrate a significant prevalence of SCD of approximately 1:12,000 in an unselected urban and rural population in Southwest Germany. Together with previously published even higher results from exclusively urban populations in Berlin and Hamburg, our data provide the basis for the decision on a newborn screening program for SCD in Germany.

  9. Family, Community, and Health System Considerations for Reducing the Burden of Pediatric Sickle Cell Disease in Uganda Through Newborn Screening

    PubMed Central

    Green, Nancy S.; Mathur, Sanyukta; Kiguli, Sarah; Makani, Julie; Fashakin, Victoria; LaRussa, Philip; Lyimo, Magdalena; Abrams, Elaine J.; Mulumba, Lukia; Mupere, Ezekiel

    2016-01-01

    Sickle cell disease (SCD) is associated with high mortality for children under 5 years of age in sub-Saharan Africa. Newborn sickle screening program and enhanced capacity for SCD treatment are under development to reduce disease burden in Uganda and elsewhere in the region. Based on an international stakeholder meeting and a family-directed conference on SCD in Kampala in 2015, and interviews with parents, multinational experts, and other key informants, we describe health care, community, and family perspectives in support of these initiatives. Key stakeholder meetings, discussions, and interviews were held to understand perspectives of public health and multinational leadership, patients and families, as well as national progress, resource needs, medical and social barriers to program success, and resources leveraged from HIV/AIDS. Partnering with program leadership, professionals, patients and families, multinational stakeholders, and leveraging resources from existing programs are needed for building successful programs in Uganda and elsewhere in sub-Saharan Africa. PMID:27336011

  10. Universal Newborn Hearing Screening and Early Identification of Deafness: Parents' Responses to Knowing Early and Their Expectations of Child Communication Development

    ERIC Educational Resources Information Center

    Young, Alys; Tattersall, Helen

    2007-01-01

    This article presents results from an interview study of 45 parents/caregivers (representing 27 families) whose infants were correctly identified as deaf during the first phase of the implementation of the national universal Newborn Hearing Screening Programme in England. Average age of children when parents were interviewed was 25 weeks. Two…

  11. Design and evaluation of a decision aid for inviting parents to participate in a fragile X newborn screening pilot study.

    PubMed

    Bailey, Donald B; Lewis, Megan A; Harris, Shelly L; Grant, Tracey; Bann, Carla; Bishop, Ellen; Roche, Myra; Guarda, Sonia; Barnum, Leah; Powell, Cynthia; Therrell, Bradford L

    2013-02-01

    The major objectives of this project were to develop and evaluate a brochure to help parents make an informed decision about participation in a fragile X newborn screening study. We used an iterative development process that drew on principles of Informed Decision Making (IDM), stakeholder input, design expertise, and expert evaluation. A simulation study with 118 women examined response to the brochure. An independent review rated the brochure high on informational content, guidance, and values. Mothers took an average of 6.5 min to read it and scored an average of 91.1 % correct on a knowledge test. Most women rated the brochure as high quality and trustworthy. When asked to make a hypothetical decision about study participation, 61.9 % would agree to screening. Structural equation modeling showed that agreement to screening and decisional confidence were associated with perceived quality and trust in the brochure. Minority and white mothers did not differ in perceptions of quality or trust. We demonstrate the application of IDM in developing a study brochure. The brochure was highly rated by experts and consumers, met high standards for IDM, and achieved stated goals in a simulation study. The IDM provides a model for consent in research disclosing complicated genetic information of uncertain value.

  12. Genome Screen to Detect Linkage to Common Susceptibility Genes for Intracranial and Aortic Aneurysms

    PubMed Central

    Worrall, Bradford B.; Foroud, Tatiana; Brown, Robert D.; Connolly, E. Sander; Hornung, Richard W.; Huston, John; Kleindorfer, Dawn; Koller, Daniel L.; Lai, Dongbing; Moomaw, Charles J.; Sauerbeck, Laura; Woo, Daniel; Broderick, Joseph P.

    2008-01-01

    Background and Purpose Risk for both intracranial aneurysms (IAs) and aortic aneurysms (AAs) is thought to be heritable with mounting evidence for genetic predisposition. The concept of shared risk for these conditions is challenged by differences in age of diagnosis and demographic characteristics. We performed a genomewide linkage analysis in multiplex families with both IA and AA from the Familial Intracranial Aneurysm study. Methods Available medical records of subjects who reported IA or abdominal/thoracic AA were reviewed with adjudication as definite/probable, possible, or not a case. To identify genes contributing to the susceptibility for IA and AA, genomewide linkage analysis was performed in the 26 multiplex IA families who had members who also had thoracic or abdominal AA. Individuals (n=91) were defined as affected if they had an IA (definite/probable) or an aortic or thoracic AA (definite/probable). Results Maximum logarithm of odds (LOD) scores were found on chromosomes 11 (144 cM; LOD=3.0) and 6 (33 cM; LOD=2.3). In both chromosomal regions, analyses of these same 26 families considering only IA as the disease phenotype produced LOD scores of 1.8 and 1.6, respectively. Conclusions Our linkage analysis in these 26 families using the broadest disease phenotype, including IA, abdominal AA, and thoracic AA, supports the concept of shared genetic risk. The chromosome 11 locus appears to confirm earlier independent associations in IA and AA. The chromosome 6 finding is novel. Both warrant further investigation. PMID:18948608

  13. Temporal Trends of Polybrominated Diphenyl Ethers (PBDEs) in the Blood of Newborns from New York State during 1997 through 2011: Analysis of Dried Blood Spots from the Newborn Screening Program

    PubMed Central

    Ma, Wan-Li; Yun, Sehun; Bell, Erin M.; Druschel, Charlotte M.; Caggana, Michele; Aldous, Kenneth M.; Buck Louis, Germaine M.; Kannan, Kurunthachalam

    2013-01-01

    Polybrominated diphenyl ethers (PBDEs) are ubiquitous environmental pollutants, and, on a global basis, North American populations are exposed to the highest doses of PBDEs. In response to the exponential increase in human exposure to PBDEs during the late 1990s, some PBDE formulations were phased out from production in the early 2000s. The effectiveness of the phase-out of commercial Penta-BDE and Octa-BDE mixtures in 2004 in the U.S. on human exposure levels is not known. Dried blood spots (DBSs), collected for the newborn screening program (NSP) in the U.S., are a valuable resource for the elucidation of trends in exposure to environmental pollutants in newborns. In this study, seven PBDE congeners were determined by gas chromatography-high resolution mass spectrometry (GC-HRMS) in archived DBS samples (in total, 51 blood spot composites from 1,224 newborns) collected from newborns in New York State (NYS) from 1997 to 2011. The most frequently detected PBDE congener was BDE-47, with a detection rate (DR) of 86%, followed by BDE-99 (DR: 45%) and BDE-100 (DR: 43%). The mean concentrations determined during 1997 through 2011 in the whole blood of newborns were 0.128, 0.040, and 0.012 ng/mL for BDEs −47, −99, and −100, respectively. A significant correlation was found among the concentrations of three major congeners (p < 0.001). PBDE concentrations were similar during 1997 through 2002 and, thereafter, decreased significantly, which was similar to the trends observed for perfluorinated compounds (PFCs) in DBS samples. Occurrence of PBDEs in the whole blood of newborns confirms that these compounds do cross the placental barrier. PMID:23755886

  14. Newborn screening for pompe disease? a qualitative study exploring professional views

    PubMed Central

    2014-01-01

    Background Developments in enzyme replacement therapy have kindled discussions on adding Pompe disease, characterized by progressive muscle weakness and wasting, to neonatal screening. Pompe disease does not fit traditional screening criteria as it is a broad-spectrum phenotype disorder that may occur in lethal form in early infancy or manifest in less severe forms from infancy to late adulthood. Current screening tests cannot differentiate between these forms. Normally, expanding screening is discussed among experts in advisory bodies. While advisory reports usually mention the procedures and outcome of deliberations, little is known of the importance attached to different arguments and the actual weighing processes involved. In this research we aim to explore the views of a wide range of relevant professionals to gain more insight into the process of weighing pros and cons of neonatal screening for Pompe disease, as an example of the dilemmas involved in screening for broad-spectrum phenotype disorders. Methods We conducted 24 semi-structured interviews with medical, lab, insurance and screening professionals, and executive staff of patient organisations. They were asked about their first reaction to neonatal screening for Pompe disease, after which benefits and harms and requirements for screening were explored in more detail. Results Advantages included health gain by timely intervention, avoiding a diagnostic quest, having a reproductive choice and gaining more knowledge about the natural course and treatment. Being prepared was mentioned as an advantage for the later manifesting cases. Disadvantages included treatment costs and uncertainties about its effect, the timing of treatment in later manifesting cases, the psychological burden for the patient-in-waiting and the family. Also the downsides of having prior knowledge as well as having to consider a reproductive option were mentioned as disadvantages. Conclusion When weighing pros and cons, interviewees

  15. Screening of hearing impairment in the newborn using the auditory response cradle.

    PubMed Central

    Tucker, S M; Bhattacharya, J

    1992-01-01

    The Auditory Response Cradle (ARC) is a fully automated microprocessor controlled machine that was designed for the hearing screening of full term neonates. In order to evaluate the ARC, 6000 babies were screened at a district maternity hospital over a period of three years. Every infant subsequently entered a three year follow up programme. One hundred and two babies (1.7%) failed the ARC screen (that is, they failed two ARC tests) and 20 of these were found to have some hearing impairment: in 10 it was severe (80-90 dBHL), in seven moderate (45-60 dBHL), and in three it was mild to moderate (less than 45 dBHL). In addition, of the 20 babies who failed a first test and were discharged before a second could be performed, two were confirmed to have a severe hearing loss; 79 infants failing the screen were cleared on further testing, giving the ARC a false positive rate of 1.3%. On following up all 6000 infants for three years, seven children who passed the neonatal screen were subsequently found to have a hearing loss. For two babies the aetiology was unknown but for five the hearing impairment was either due to a hereditary progressive loss or definite postnatal factors. Progressive and acquired hearing losses cannot be detected at a neonatal screen and this emphasises the need for follow up screens at other stages in the child's life. In this long term study the ARC has been found to have a high detection rate for severe hearing loss and confirms the practical possibility of using a behavioural technique for the universal screening of hearing in neonates. Images Figure 1 Figure 2 PMID:1519957

  16. False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency.

    PubMed

    Stuhrman, Grace; Perez Juanazo, Stefanie J; Crivelly, Kea; Smith, Jennifer; Andersson, Hans; Morava, Eva

    2017-01-12

    Classical galactosemia is detected through newborn screening by measuring galactose-1-phosphate uridylyltransferase (GALT) in the USA primarily via the Beutler spot assay. We report on an 18-month-old patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency that was originally diagnosed with classical galactosemia. The patient presented with elevated liver function enzymes and bilirubinemia and was immediately treated with soy-based formula. Confirmatory tests revealed deficiency of the GALT enzyme, however, full-sequencing of GALT was normal, suggestive of a different ideology. The Beutler spot assay uses three other enzymatic steps in addition to GALT. A deficiency in either of these enzymes can result in suspected decreased GALT activity when using the Beutler assay. Congenital Disorders of Glycosylation screening for phosphoglucomutase-1 deficiency was negative. Quantitative analysis of G6PD enzyme in red blood cells showed a severe deficiency and a deletion in G6PD. Soy-formula, the standard treatment for galactosemia, has been reported to trigger hemolysis in G6PD deficient patients. G6PD and phosphoglucomutase-1 deficiencies should be considered when confirmatory tests are negative for pathogenic variants in GALT and galactose-1-phosphate level is normal.

  17. Newborn hearing screening outcomes during the first decade of the program in a reference hospital from Turkey.

    PubMed

    Kemaloğlu, Yusuf Kemal; Gökdoğan, Çağıl; Gündüz, Bülent; Önal, Eray Esra; Türkyılmaz, Canan; Atalay, Yıldız

    2016-05-01

    In this study, the authors report the results of a three-stage newborn hearing screening (NHS) program for well babies at the Gazi University Hospital (GUH) in Ankara between 2003 and 2013. GUH-NHS was performed by automated transient evoked otoacoustic emission (a-TEOAE) at the first and second steps and by automated brainstem audiometry (a-ABR) at the third step. The data were analysed to assess not only rate of congenital permanent hearing loss (CPHL), but also the effectiveness of the program during the years. A total of 18,470 well babies were tested. The data showed that coverage ratio for the GUH-born babies was increased and more outside-born babies (OBB) were admitted by time (means 84.31 and 11.28 %, respectively). Mean CPHL was found to be 0.26 %. Mean referral rate was decreased to 0.81 % by a-ABR from 2.16 % by a-TEOAE. Mean of missed cases in any stage of GUH-NHS was 4.88 %. It was seen that neither CPHL nor referral rate, but only ratio of missed ones presented increase in parallel to increment in OBB. This paper first presents that clinically acceptable screening procedures developed in GUH by time, and secondly higher rate of CPHL in Turkey than in the Western countries, and benefits of third stage screening by a-ABR because it prevented referral of 251 children (1.29 %) to the clinical tests. We think that this number is reasonably important regarding not only economical point of view, but also waiting lists in the audiology departments in a developing country, in which audiological service is still limited.

  18. A Call to Include Severe Combined Immunodeficiency in Newborn Screening Program

    PubMed Central

    Somech, Raz; Etzioni, Amos

    2014-01-01

    Quantification of the T cell receptor excision circles (TRECs) has recently emerged as a useful non-invasive clinical and research tool to investigate thymic activity. It allows the identification of T cell production by the thymus. Quantification of TREC copies has recently been implemented as the preferred test to screen neonates with severe combined immunodeficiency (SCID) or significant lymphopenia. Neonatal genetic screening for SCID is highly important in countries with high rates of consanguinous marriages, such as Israel, and can be used for early diagnosis, enabling prompt therapeutic intervention that will save lives and improve the outcome of these patients. TREC measurement is also applicable in clinical settings where T cell immunity is involved, including any T cell immunodeficiencies, HIV infection, the aging process, autoimmune diseases, and immune reconstitution after bone marrow transplantation. TAKE-HOME MESSAGES Severe combined immunodeficiency, a life-threatening condition, can be detected by neonatal screening. The earlier the detection and the quicker the implementation of appropriate treatment, the greater the likelihood for improved outcome, even cure, for the affected children. TRECs and KRECs quantification are useful screening tests for severe T and B cell immunodeficiency and can be used also to evaluate every medical condition involving T and B cell immunity. PMID:24498508

  19. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

    PubMed Central

    2013-01-01

    Background Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited defect in the mitochondrial fatty acid oxidation pathway, resulting in significant morbidity and mortality in undiagnosed patients. Newborn screening (NBS) has considerably improved MCADD outcome, but the risk of complication remains in some patients. The aim of this study was to evaluate the relationship between genotype, biochemical parameters and clinical data at diagnosis and during follow-up, in order to optimize monitoring of these patients. Methods We carried out a multicenter study in southwest Europe, of MCADD patients detected by NBS. Evaluated NBS data included free carnitine (C0) and the acylcarnitines C8, C10, C10:1 together with C8/C2 and C8/C10 ratios, clinical presentation parameters and genotype, in 45 patients. Follow-up data included C0 levels, duration of carnitine supplementation and occurrence of metabolic crises. Results C8/C2 ratio and C8 were the most accurate biomarkers of MCADD in NBS. We found a high number of patients homozygous for the prevalent c.985A > G mutation (75%). Moreover, in these patients C8, C8/C10 and C8/C2 were higher than in patients with other genotypes, while median value of C0 was significantly lower (23 μmol/L vs 36 μmol/L). The average follow-up period was 43 months. To keep carnitine levels within the normal range, carnitine supplementation was required in 82% of patients, and for a longer period in patients homozygotes for the c.985A>G mutation than in patients with other genotypes (average 31 vs 18 months). Even with treatment, median C0 levels remained lower in homozygous patients than in those with other genotypes (14 μmol/L vs 22 μmol/L). Two patients died and another three suffered a metabolic crisis, all of whom were homozygous for the c.985 A>G mutation. Conclusions Our data show a direct association between homozygosity for c.985A>G and lower carnitine values at diagnosis, and a higher dose of carnitine

  20. Incidence of congenital toxoplasmosis estimated by neonatal screening: relevance of diagnostic confirmation in asymptomatic newborn infants.

    PubMed

    Carvalheiro, C G; Mussi-Pinhata, M M; Yamamoto, A Y; De Souza, C B S; Maciel, L M Z

    2005-06-01

    Congenital toxoplasmosis is rarely identified by routine clinical examination. The aim of this study was to estimate the incidence of the disease in the region of Ribeirão Preto, south-eastern Brazil. A definitive diagnosis was made on the basis of the persistence of anti-Toxoplasma IgG antibodies beyond 1 year of age. Blood samples obtained from 15,162 neonates and adsorbed onto filter paper were tested for anti-Toxoplasma IgM antibodies. Fifteen samples gave positive results. A definitive diagnosis was confirmed in five of the 13 infants (38.5%) who completed follow-up. These five infants presented with serum IgM and/or IgA antibodies, and clinical abnormalities. Disease incidence was estimated to be 3.3/10,000 (95% CI 1.0-7.7), indicating the need for preventive measures. Neonatal screening is feasible, but screening tests with a better performance are required; positive screening results must be carefully confirmed.

  1. A Novel Approach to Realizing Routine HIV Screening and Enhancing Linkage to Care in the United States: Protocol of the FOCUS Program and Early Results

    PubMed Central

    Sullivan, Patrick S; Rothman, Richard E; Brown, Emily H; Fitzpatrick, Lisa K; Wood, Angela F; Hernandez, Paloma I; Nunn, Amy S; Serota, Martin L; Moreno-Walton, Lisa

    2014-01-01

    Background The United States health care system remains far from implementing the Centers for Disease Control and Prevention's recommendation of routine human immunodeficiency virus (HIV) screening as part of health care for adults. Although consensus for the importance of screening has grown, innovations in implementing routine screening are still lacking. HIV on the Frontlines of Communities in the United States (FOCUS) was launched in 2010 to provide an environment for testing innovative approaches to routine HIV screening and linkage to care. Objective The strategy of the FOCUS program was to develop models that maximize the use of information systems, fully integrate HIV screening into clinical practice, transform basic perceptions about routine HIV screening, and capitalize on emerging technologies in health care settings and laboratories. Methods In 10 of the most highly impacted cities, the FOCUS program supports 153 partnerships to increase routine HIV screening in clinical and community settings. Results From program launch in 2010 through October 2013, the partnerships have resulted in a total of 799,573 HIV tests and 0.68% (5425/799,573) tested positive. Conclusions The FOCUS program is a unique model that will identify best practices for HIV screening and linkage to care. PMID:25093431

  2. Reliability of isoelectrofocusing for the detection of Hb S, Hb C, and HB D in a pioneering population-based program of newborn screening in Brazil.

    PubMed

    Paixão, M C; Cunha Ferraz, M H; Januário, J N; Viana, M B; Lima, J M

    2001-08-01

    Out of 128,326 newborns in the first 6-month period of a population-based screening program in Minas Gerais, Brazil, a second sample was obtained at the age of 6 months from 4,635 carriers of Hbs AS, AC, and AD which were detected by isoelectrofocusing. Discordance in results occurred in only 27 cases (0.6%): in seven there was a history of hemotransfusion; errors during pipetting or transcription of results occurred in seven cases; it was difficult to differenciate between Hbs S and D in eight patients; and the causes were not elucidated in five patients. The incidence of Hbs FS and FSC for the total population was 1:2,800 and 1:3,450, respectively. Isoelectrofocusing is a very reliable method for distinguishing AS, AC, or AD carriers from patients presenting with [corrected] variant hemoglobin and beta(+)-thalassemia combinations, and may be widely used in massive newborn screening programs.

  3. A Tailored Approach to Family-Centered Genetic Counseling for Cystic Fibrosis Newborn Screening: The Wisconsin Model

    PubMed Central

    Tluczek, Audrey; Zaleski, Christina; Stachiw-Hietpas, Dania; Modaff, Peggy; Adamski, Craig R.; Nelson, Megan R.; Reiser, Catherine A.; Ghate, Sumedha; Josephson, Kevin D.

    2010-01-01

    Objective Develop a tailored family-centered approach to genetic counseling following abnormal newborn screening (NBS) for cystic fibrosis (CF). Method A genetic counseling consortium reviewed research literature, selected theoretical frameworks, and incorporated counseling psychology micro skills. Results This innovative intervention integrated theories and empirically validated techniques. Pilot testing and parent feedback confirmed satisfaction with and feasibility of the approach designed to (a) minimize parents’ distress, (b) facilitate parents’ understanding, (c) increase parents’ capacities to use genetic information, and (d) enhance parents’ experiences with genetic counseling. Counselors engage in a highly interactive process of evaluating parents’ needs and tailoring assessments and interventions that include a therapeutic environment, the family’s emotional needs, parents’ informational needs, and a follow-up plan. Conclusion This promising new model is the first to establish a theory-driven, evidence-based standard for genetic counseling in the context of NBS for CF. Additional research will evaluate the model’s efficacy in clinical practice. PMID:20936425

  4. Comparison of DNA extraction methods from small samples of newborn screening cards suitable for retrospective perinatal viral research.

    PubMed

    McMichael, Gai L; Highet, Amanda R; Gibson, Catherine S; Goldwater, Paul N; O'Callaghan, Michael E; Alvino, Emily R; MacLennan, Alastair H

    2011-04-01

    Reliable detection of viral DNA in stored newborn screening cards (NSC) would give important insight into possible silent infection during pregnancy and around birth. We sought a DNA extraction method with sufficient sensitivity to detect low copy numbers of viral DNA from small punch samples of NSC. Blank NSC were spotted with seronegative EDTA-blood and seropositive EBV EDTA-blood. DNA was extracted with commercial and noncommercial DNA extraction methods and quantified on a spectrofluorometer using a PicoGreen dsDNA quantification kit. Serial dilutions of purified viral DNA controls determined the sensitivity of the amplification protocol, and seropositive EBV EDTA-blood amplified by nested PCR (nPCR) validated the DNA extraction methods. There were considerable differences between the commercial and noncommercial DNA extraction methods (P=0.014; P=0.016). Commercial kits compared favorably, but the QIamp DNA micro kit with an added forensic filter step was marginally more sensitive. The mean DNA yield from this method was 3 ng/μl. The limit of detection was 10 viral genome copies in a 50-μl reaction. EBV nPCR detection in neat and 1:10 diluted DNA extracts could be replicated reliably. We conclude that the QIamp Micro DNA extraction method with the added forensic spin-filter step was suitable for retrospective DNA viral assays from NSC.

  5. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

    PubMed Central

    Turecek, Frantisek; Scott, C. Ron; Chamoles, Nestor A.

    2008-01-01

    Summary Tandem mass spectrometry is currently used in newborn screening programmes to quantify the level of amino acids and acylcarnitines in dried blood spots for detection of metabolites associated with treatable diseases. We have developed assays for lysosomal enzymes in re-hydrated dried blood spots in which a set of substrates is added and the set of corresponding enzymatic products are quantified using tandem mass spectrometry with the aid of mass-differentiated internal standards. We have developed a multiplex assay of the set of enzymes that, when deficient, cause the lysosomal storage disorders Fabry, Gaucher, Hurler, Krabbe, Niemann–Pick A/B and Pompe diseases. These diseases were selected because treatments are now available or expected to emerge shortly. The discovery that acarbose is a selective inhibitor of maltase glucoamylase allows the Pompe disease enzyme, acid α-glucosidase, to be selectively assayed in white blood cells and dried blood spots. When tested with dried blood spots from 40 unaffected individuals and 10–12 individuals with the lysosomal storage disorder, the tandem mass spectrometry assay led to the correct identification of the affected individuals with 100% sensitivity. Many of the reagents needed for the new assays are commercially available, and those that are not are being prepared under Good Manufacturing Procedures for approval by the FDA. Our newborn screening assay for Krabbe disease is currently being put in place at the Wadsworth Center in New York State for the analysis of ~1000 dried blood spots per day. Summary We have developed tandem mass spectrometry for the direct assay of lysosomal enzymes in rehydrated dried blood spots that can be implemented for newborn screening of lysosomal storage disorders. Several enzymes can be analysed by a single method (multiplex analysis) and in a high-throughput manner appropriate for newborn screening laboratories. PMID:16763908

  6. Impact of early transcranial Doppler screening and intensive therapy on cerebral vasculopathy outcome in a newborn sickle cell anemia cohort.

    PubMed

    Bernaudin, Françoise; Verlhac, Suzanne; Arnaud, Cécile; Kamdem, Annie; Chevret, Sylvie; Hau, Isabelle; Coïc, Lena; Leveillé, Emmanuella; Lemarchand, Elisabeth; Lesprit, Emmanuelle; Abadie, Isabelle; Medejel, Nadia; Madhi, Fouad; Lemerle, Sophie; Biscardi, Sandra; Bardakdjian, Josiane; Galactéros, Frédéric; Torres, Martine; Kuentz, Mathieu; Ferry, Christelle; Socié, Gérard; Reinert, Philippe; Delacourt, Christophe

    2011-01-27

    Transcranial Doppler (TCD) is used to detect children with sickle cell anemia (SCA) who are at risk for stroke, and transfusion programs significantly reduce stroke risk in patients with abnormal TCD. We describe the predictive factors and outcomes of cerebral vasculopathy in the Créteil newborn SCA cohort (n = 217 SS/Sβ(0)), who were early and yearly screened with TCD since 1992. Magnetic resonance imaging/magnetic resonance angiography was performed every 2 years after age 5 (or earlier in case of abnormal TCD). A transfusion program was recommended to patients with abnormal TCD and/or stenoses, hydroxyurea to symptomatic patients in absence of macrovasculopathy, and stem cell transplantation to those with human leukocyte antigen-genoidentical donor. Mean follow-up was 7.7 years (1609 patient-years). The cumulative risks by age 18 years were 1.9% (95% confidence interval [95% CI] 0.6%-5.9%) for overt stroke, 29.6% (95% CI 22.8%-38%) for abnormal TCD, which reached a plateau at age 9, whereas they were 22.6% (95% CI 15.0%-33.2%) for stenosis and 37.1% (95% CI 26.3%-50.7%) for silent stroke by age 14. Cumulating all events (stroke, abnormal TCD, stenoses, silent strokes), the cerebral risk by age 14 was 49.9% (95% CI 40.5%-59.3%); the independent predictive factors for cerebral risk were baseline reticulocytes count (hazard ratio 1.003/L × 10(9)/L increase, 95% CI 1.000-1.006; P = .04) and lactate dehydrogenase level (hazard ratio 2.78/1 IU/mL increase, 95% CI1.33-5.81; P = .007). Thus, early TCD screening and intensification therapy allowed the reduction of stroke-risk by age 18 from the previously reported 11% to 1.9%. In contrast, the 50% cumulative cerebral risk suggests the need for more preventive intervention.

  7. Newborn screening shows a high incidence of sickle cell anemia in Central India.

    PubMed

    Jain, Dipty L; Sarathi, Vijaya; Upadhye, Dipty; Gulhane, Rohini; Nadkarni, Anita H; Ghosh, Kanjaksha; Colah, Roshan B

    2012-01-01

    There is limited data on the incidence of sickle cell anemia in Central India; we therefore conducted a study to estimate the incidence of this disease in Central India. Mothers who delivered a live baby at the Government Medical College, Nagpur, India were screened for the presence of the sickle cell hemoglobin {Hb S: [β6 (A3) Glu→Val, GAG>GTG]} using the solubility test within 48 hours of delivery. Infants of mothers who showed the presence of Hb S then underwent Hb analysis by high performance liquid chromatography (HPLC). A total of 8243 mothers was screened, 1178 of whom were positive. One thousand, one hundred and sixty-two infants of mothers with a positive solubility test underwent Hb analysis by HPLC; 530 infants were normal, while 536 were heterozygous for Hb S (sickle cell trait), 88 babies were homozygous for Hb S (sickle cell anemia), while another eight babies had other Hb abnormalities. The incidence of sickle cell anemia was highest in the Scheduled caste group (1:50). We concluded that the incidence of sickle cell anemia is high in central India.

  8. An analysis and decision tool to measure cost benefit of newborn screening for severe combined immunodeficiency (SCID) and related T-cell lymphopenia.

    PubMed

    Modell, Vicki; Knaus, Megan; Modell, Fred

    2014-10-01

    Severe combined immunodeficiency (SCID) is a group of syndromes resulting from genetic defects causing absence in T-cell and B-cell function, leading to serious and life-threatening infections. SCID is often fatal in the first 2 years of life if not identified and properly treated. While additional laboratory methods are being developed, the current T-cell receptor excision circle assay has proven to have outstanding specificity and sensitivity to accurately identify infants with SCID and other T-cell lymphopenia. The Jeffrey Modell Foundation (JMF) has a long history of advocacy and continues to promote newborn screening for SCID to be implemented in the United States and worldwide. Based on reports provided by California, New York, Texas, and Wisconsin on the results of their population based newborn screening programs, the overall incidence of SCID averaged 1:33,000 and T-cell lymphopenia averaged 1:6,600. JMF has developed a working algorithm or "decision tree", validated by peer-reviewed scientific literature, to be used by Public Health Departments and Health Ministries in states, countries, and regions throughout the world. This decision tool allows for local or regional data to be applied to measure the threshold and economic impact of implementing newborn screening for SCID and T-cell lymphopenia.

  9. Fetal Fatty Acid Oxidation Disorders, Their Effect on Maternal Health and Neonatal Outcome: Impact of Expanded Newborn Screening on Their Diagnosis and Management

    PubMed Central

    SHEKHAWAT, PREM S.; MATERN, DIETRICH; STRAUSS, ARNOLD W.

    2013-01-01

    Mitochondrial fatty acid oxidation disorders (FAOD) are recessively inherited errors of metabolism. Newborns with FAOD typically present with hypoketotic hypoglycemia, metabolic acidosis, hepatic failure, and cardiomyopathy. Late presentations include episodic myopathy, neuropathy, retinopathy, and arrhythmias. Sudden unexpected death can occur at any age and can be confused with sudden infant death syndrome. Some FAOD are associated with intrauterine growth restriction, prematurity, and pregnancy complications in the heterozygous mother, such as severe preeclampsia, acute fatty liver of pregnancy (AFLP), or hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome. Maternal pregnancy complications occur primarily in mothers carrying a fetus with long-chain L-3-hydroxyacyl CoA dehydrogenase deficiency or general tri-functional protein deficiencies. FAOD as a group represent the most common inborn errors of metabolism, and presymptomatic diagnosis of FAOD is the key to reduce morbidity and avoid mortality. The application of tandem mass spectrometry to newborn screening provides an effective means to identify most FAOD patients presymptomatically. At the beginning of 2005, 36 state newborn screening programs have mandated or adopted this technology resulting in a marked increase in the number of asymptomatic neonates with FAOD diagnosed. To ensure the long-term benefits of such screening programs, pediatricians and other health care providers must be educated about these disorders and their treatment. PMID:15817498

  10. Newborn Screening: After the Thrill Is Gone The Donough O’Brien Presidential Lecture Presented at the 2007 Annual Meeting of the Society for Inherited Metabolic Disorders Nashville, TN

    PubMed Central

    Vockley, Jerry

    2009-01-01

    Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry has raised the stakes for specialists in metabolic medicine. New disorders and a broader clinical spectrum of disease call for new paradigms in approaching inborn errors of metabolism. The Society for Inherited Disorders has been at the forefront of advances in newborn screening for many years and faces new challenges in meeting new needs. PMID:17604202

  11. Universal screening for hepatitis B among pregnant women led to 96% vaccination coverage among newborns of HBsAg positive mothers in Denmark.

    PubMed

    Harder, Katja Majlund; Cowan, Susan; Eriksen, Mette Brandt; Krarup, Henrik B; Christensen, Peer Brehm

    2011-11-21

    In Denmark selective screening programs of pregnant women for hepatitis B missed 30-50% of high-risk groups and in late 2005 a universal screening of pregnant women for HBsAg was implemented. During a 2-year period a prospective enhanced surveillance of the universal screening was performed to examine the effectiveness of universal HBV-screening of pregnant women and HBV-immunizations of their newborn, and to provide a prevalence-estimate for HBV in Denmark. On a opt out basis all women in Denmark attending antenatal care were tested for hepatitis B serology. Vaccination data of the newborns and households of HBsAg positive pregnant women were assembled. Among 140,376 HBsAg tests of pregnant women, 371 (0.26%) were positive. The prevalence among women of Danish origin was 0.012% and 2.74% among foreign born women, highest for women from Southeast Asia (14.5%). Genotype C was the most prevalent (37%) and 13% had a HBVDNA ≥10(8) IU/ml. The prevalence estimate of chronic hepatitis B in Denmark was 0.2-0.3% in the general population. Among children born within the project period, 96% received vaccination at birth compared to 50% of siblings born prior to universal screening. During 3 years of passive follow-up two transmissions (0.5%) have been notified. Among children born of the positive mothers prior to the trial-period 7.3% had been notified. Thus the prevalence of HBV positive mothers has more than doubled in Denmark over the last 40 years, but among women of Danish origin it has decreased 10-fold. By replacing selective screening with universal, identification of newborns in need of HBV-immunization was increased from 50% to almost complete coverage, and also identifies mothers with high viral load for evaluation of pre-term treatment to interrupt in utero transmission.

  12. Ultrasound in developmental dysplasia of the hip: A screening study in Sardinian newborns.

    PubMed

    Dessì, A; Crisafulli, M; Vannelli, E; Fanos, V

    2009-06-01

    Sommario INTRODUZIONE: La displasia evolutiva dell'anca (DDH) costituisce la deformità più frequente dell'apparato locomotore. Lo screening ecografico è la metodica più utilizzata nell'identificazione della DDH, considerando la brevità del periodo in cui la diagnosi è possibile prima della comparsa dei sintomi clinici. Un intervento terapeutico appropriato precoce può avere un effetto positivo in relazione all'evoluzione di tale patologia. METODI: L'esame ecografico, la sua valutazione, la classificazione e la tipizzazione delle anche sono stati effettuati secondo il metodo descritto dal Graf. I pazienti sono stati valutati per mezzo di un'analisi retrospettiva volta a identificare i casi di DDH. Tutti i casi sono stati classificati e in base a ciò si è deciso il tipo di trattamento da attuare. RISULTATI: Complessivamente sono state osservate 145 anche in 122 bambini che presentavano un certo grado di displasia. L'età alla diagnosi variava da 14 a 90 giorni con una media di 52 giorni di vita. Un mese dopo la diagnosi ecografica le anche di tipo 2a, sia bilaterali che unilaterali, sono risultate normali nel 94%. Il restante 6% così come i tipi 2b, 2c, D e 3 sono stati trattati con un divaricatore e la guarigione completa è stata ottenuta dopo due mesi di trattamento. Il tipo 4 è stato monitorato esclusivamente da un chirurgo ortopedico per un trattamento specialistico. CONCLUSIONI: Una volta effettuata l'indagine ecografica da operatori esperti si può decidere il tipo di trattamento più adeguato. L'ottima prognosi osservata a seguito del trattamento iniziale della DDH sottolinea la necessità di eseguire uno screening dell'anca allo scopo di effettuare una diagnosi e un trattamento precoce in questa patologia.

  13. Healthy Start, Grow Smart: Your Newborn.

    ERIC Educational Resources Information Center

    Department of Education, Washington, DC.

    This booklet offers guidance to parents in caring for their newborn babies. Advice is given on the following topics: (1) newborn health screening; (2) what a healthy newborn looks like; (3) newborn reflexes; (4) baby checkups; (5) fathers' role; (6) the baby blues; (7) sleeping position; (8) breast milk; (9) breast feeding; (10) bottle feeding;…

  14. Risk Stratification Model to Detect Early Pulmonary Disease in Infants With Cystic Fibrosis Diagnosed by Newborn Screening

    PubMed Central

    Britton, Lacrecia J.; Oates, Gabriela R.; Oster, Robert A.; Self, Staci T.; Troxler, Robert B.; Hoover, Wynton C.; Gutierrez, Hector H.; Harris, William T.

    2017-01-01

    Summary Objective The clinical benefit of newborn screening (NBS) for cystic fibrosis (CF) has been primarily nutritional, with less overt respiratory impact. Identification of risk factors for infant CF lung disease could facilitate targeted interventions to improve pulmonary outcomes. Methods This retrospective study evaluated socioeconomic information, clinical data, and results from routine infant pulmonary function testing (iPFT) of infants diagnosed with CF through NBS (N = 43) at a single CF center over a 4-year period (2008–2012). A five-item composite clinical score was developed and combined with socioeconomic indicators to facilitate identification of CF infants at increased risk of early-onset respiratory impairment. Results Paternal education was positively associated with lung function (P = 0.02). Clinical score <7 (on a scale of 0–10) predicted diminished pulmonary measure (P < 0.005). Retrospective risk stratification by clinical score and paternal education identified CF infants at low, intermediate, or high risk of pulmonary disease. Forced expiratory volume (FEV0.5%, mean ± SD) averaged 115 ± 19% in the low-risk group, 97 ± 17% in the intermediate-risk group, and 90 ± 8% in the high-risk group (P < 0.005). Results were similar for mid-expiratory flows (FEF25–75%). Multiple regression analysis confirmed the predictive value of this risk stratification model of CF infant pulmonary health. Conclusion We combined socioeconomic and clinical data to risk-stratify CF infants for early-onset lung disease as quantified by iPFT. Our model showed significant differences in infant pulmonary function across risk groups. The developed tool offers an easily available, inexpensive, and non-invasive way to assess risk of respiratory decline in CF infants and identify those meriting targeted therapeutic attention. PMID:27556254

  15. How well does the capillary thyroid-stimulating hormone test for newborn thyroid screening predict the venous free thyroxine level?

    PubMed Central

    Pokrovska, Tzveta; Jones, Jeremy; Shaikh, M Guftar; Smith, Sarah; Donaldson, Malcolm D C

    2016-01-01

    Objectives To determine, in newborn infants referred with elevated capillary thyroid-stimulating hormone (TSH), a threshold below which a frankly subnormal venous free thyroxine (fT4) level of <10 pmol/L is unlikely, so that treatment with levo-thyroxine (L-T4) might be deferred until venous thyroid function tests (TFTs) become available. Subjects and methods All infants referred in Scotland since 1979 with capillary TSH elevation were studied, with particular focus on infants screened using the AutoDELFIA assay between 2002 and 2013. Results Of the 321 infants referred with capillary TSH elevation using AutoDELFIA, 35 were excluded (fT4/TSH unavailable (12), venous sample either preceding or >10 days after capillary sampling (13, 10)), leaving 286 eligible for analysis (208 definite/probable hypothyroidism, 61 transient TSH elevation, 17 of uncertain thyroid status). Capillary TSH and venous T4 were strongly correlated (Spearman's rank correlation coefficient −0.707355). The optimal capillary TSH threshold for predicting a venous fT4 of <10 pmol/L was found to be >40 mU/L (90.3% sensitivity and 65.9% specificity compared with 90.25% and 59.1% for >35 mU/L and 88.3% and 68.2% for >45 mU/L). 93 infants (32.5%) had capillary TSH ≤40 mU/L at referral of whom 15 (9.7%) had venous fT4 <10 pmol/L, comprising seven with true congenital hypothyroidism, five with transient TSH elevation and three with uncertain status, two of whom died. Conclusion For infants in whom capillary TSH is ≤40 mU/L, it is reasonable to defer L-T4 treatment until venous TFT results are known provided that the latter become available quickly. PMID:26966265

  16. Protonation sites and dissociation mechanisms of t-butylcarbamates in tandem mass spectrometric assays for newborn screening.

    PubMed

    Spáčil, Zdeněk; Hui, Renjie; Gelb, Michael H; Tureček, František

    2011-10-01

    Structures of tert-butylcarbamate ions in the gas-phase and methanol solution were studied for simple secondary and tertiary carbamates as well as for carbamate-containing products and internal standards for lysosomal enzyme assays used in newborn screening of a α-galactosidase A deficiency (Fabry disease), mucopolysaccharidosis I (Hurler disease), and mucopolysaccharidosis II (Hunter disease). The protonation of simple t-butylcarbamates can occur at the carbonyl group, which is the preferred site in the gas phase. Protonation in methanol solution is more favorable if occurring at the carbamate nitrogen atom. The protonation of more complex t-butylcarbamates occurs at amide and carbamate carbonyl groups, and the ions are stabilized by intramolecular hydrogen bonding, which is affected by solvation. Tertiary carbamates containing aminophenol amide groups were calculated to have substantially greater gas-phase basicities than secondary carbamates containing coumarin amide groups. The main diagnostically important ion dissociation by elimination of 2-methylpropene (isobutylene, i-C(4)H(8)) and carbon dioxide is shown by experiment and theory to proceed in two steps. Energy-resolved collision-induced dissociation of the Hurler's disease enzymatic product ion, which is a coumarin-diamine linker-t-butylcarbamate conjugate (3a(+)), indicated separate energy thresholds for the loss of i-C(4)H(8) and CO(2). Computational investigation of the potential energy surface along two presumed reaction pathways indicated kinetic preference for the migration of a t-butyl hydrogen atom to the carbamate carbonyl resulting in the isobutylene loss. The consequent loss of CO(2) required further proton migrations that had to overcome energy barriers.

  17. The impact of universal newborn hearing screening on long-term literacy outcomes: a prospective cohort study

    PubMed Central

    Pimperton, Hannah; Blythe, Hazel; Kreppner, Jana; Mahon, Merle; Peacock, Janet L; Stevenson, Jim; Terlektsi, Emmanouela; Worsfold, Sarah; Yuen, Ho Ming; Kennedy, Colin R

    2016-01-01

    Objective To determine whether the benefits of universal newborn hearing screening (UNHS) seen at age 8 years persist through the second decade. Design Prospective cohort study of a population sample of children with permanent childhood hearing impairment (PCHI) followed up for 17 years since birth in periods with (or without) UNHS. Setting Birth cohort of 100 000 in southern England. Participants 114 teenagers aged 13–19 years, 76 with PCHI and 38 with normal hearing. All had previously their reading assessed aged 6–10 years. Interventions Birth in periods with and without UNHS; confirmation of PCHI before and after age 9 months. Main outcome measure Reading comprehension ability. Regression modelling took account of severity of hearing loss, non-verbal ability, maternal education and main language. Results Confirmation of PCHI by age 9 months was associated with significantly higher mean z-scores for reading comprehension (adjusted mean difference 1.17, 95% CI 0.36 to 1.97) although birth during periods with UNHS was not (adjusted mean difference 0.15, 95% CI −0.75 to 1.06). The gap between the reading comprehension z-scores of teenagers with early compared with late confirmed PCHI had widened at an adjusted mean rate of 0.06 per year (95% CI −0.02 to 0.13) during the 9.2-year mean interval since the previous assessment. Conclusions The benefit to reading comprehension of confirmation of PCHI by age 9 months increases during the teenage years. This strengthens the case for UNHS programmes that lead to early confirmation of permanent hearing loss. Trial registration number ISRCTN03307358. PMID:25425604

  18. Newborn Screening Tests

    MedlinePlus

    ... is an enzyme needed to break down certain fatty acids in the body. Fatty acids are the building blocks of the fat ... During digestion, the body breaks down fats into fatty acids, which can then be absorbed into the ...

  19. News about Newborn Screening

    ERIC Educational Resources Information Center

    Exceptional Parent, 2007

    2007-01-01

    For years "Exceptional Parent" ("EP") has been offering educational information and support to those challenged with disabilities and takes an equally pro-active role in disseminating vital information that could potentially prevent disabilities. This is evidenced by its past and ongoing efforts in being a proponent and champion for comprehensive…

  20. Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning✰

    PubMed Central

    Therrell, Bradford L.; Lloyd-Puryear, Michele A.; Camp, Kathryn M.; Mann, Marie Y.

    2014-01-01

    Inborn errors of metabolism (IEM) are genetic disorders in which specific enzyme defects interfere with the normal metabolism of exogenous (dietary) or endogenous protein, carbohydrate, or fat. In the U.S., many IEM are detected through state newborn screening (NBS) programs. To inform research on IEM and provide necessary resources for researchers, we are providing: tabulation of ten-year state NBS data for selected IEM detected through NBS; costs of medical foods used in the management of IEM; and an assessment of corporate policies regarding provision of nutritional interventions at no or reduced cost to individuals with IEM. The calculated IEM incidences are based on analyses of ten-year data (2001–2011) from the National Newborn Screening Information System (NNSIS). Costs to feed an average person with an IEM were approximated by determining costs to feed an individual with an IEM, minus the annual expenditure for food for an individual without an IEM. Both the incidence and costs of nutritional intervention data will be useful in future research concerning the impact of IEM disorders on families, individuals and society. PMID:25085281

  1. Inborn Errors of Metabolism Collaborative (IBEMC): Large scale data collection about long-term follow-up for newborn-screened conditions

    PubMed Central

    Berry, Susan A.; Leslie, Nancy D.; Edick, Mathew J.; Hiner, Sally; Justice, Kaitlin; Cameron, Cynthia

    2016-01-01

    Purpose The Inborn Errors of Metabolism Information System (IBEM-IS) collects data on clinical history of inborn errors of metabolism (IBEM). The IBEM-IS is accessible to metabolic clinics nationwide and seeks: 1) to impact clinical management for affected individuals and 2) to provide information to support public health decision-making. Methods Thirty centers in 21 states are enrolling persons with newborn-screened conditions, collecting information on diagnosis and treatment at the time of enrollment and all subsequent visits. Prospective data are collected using electronic capture forms allowing aggregation of information regarding outcomes for individuals affected with IBEM. Results 1893 subjects have been enrolled in the IBEM-IS and >540,000 individual data points have been collected. Data collection has been initiated for subjects with 41 of 46 conditions on the RUSP; 4 conditions have >100 subjects enrolled. Median follow-up time for subjects with >1 visit (n=898) is 1.5 years (interquartile range = 2.2 years). Subjects with critical conditions are more likely to have emergency letters and sick-day plans. Mortality was exclusive to children with critical conditions. Conclusion Large-scale prospective data collection can be accomplished for individuals with rare conditions, permitting enhanced decision-making for clinical management and supporting decision-making in public health newborn screening programs. PMID:27195819

  2. 75 FR 21645 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-04-26

    ... of newborn screening programs fosters local control and accountability, it also gives rise to wide... about the newborn screening system, the State's policy on the potential use of residual newborn... screening system at that time. (4) All State newborn screening programs should work proactively to...

  3. Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis

    PubMed Central

    Grosse, Scott D.

    2015-01-01

    Decision makers sometimes request information on the cost savings, cost-effectiveness, or cost-benefit of public health programs. In practice, quantifying the health and economic benefits of population-level screening programs such as newborn screening (NBS) is challenging. It requires that one specify the frequencies of health outcomes and events, such as hospitalizations, for a cohort of children with a given condition under two different scenarios—with or without NBS. Such analyses also assume that everything else, including treatments, is the same between groups. Lack of comparable data for representative screened and unscreened cohorts that are exposed to the same treatments following diagnosis can result in either under- or over-statement of differences. Accordingly, the benefits of early detection may be understated or overstated. This paper illustrates these common problems through a review of past economic evaluations of screening for two historically significant conditions, phenylketonuria and cystic fibrosis. In both examples qualitative judgments about the value of prompt identification and early treatment to an affected child were more influential than specific numerical estimates of lives or costs saved. PMID:26702401

  4. Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots.

    PubMed

    Ko, Dae-Hyun; Jun, Sun-Hee; Park, Kyoung Un; Song, Sang Hoon; Kim, Jin Q; Song, Junghan

    2011-04-01

    Galactosemia is one of the most important inherited metabolic disorders detected by newborn screening tests. Abnormal results during screening should be confirmed by enzyme activity assays. Recently, we developed a multiplex enzyme assay for galactosemia in erythrocytes using ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). In this study, we proposed a second-tier multiplex enzyme assay for galactosemia that can be directly applied to dried blood spots (DBSs). Supernatants from two rehydrated-punched 3.2-mm DBSs were incubated with a reaction mixture containing [¹³C6]galactose, [¹³C2]galactose-1-phosphate, and UDP-glucose as substrates for three galactose-metabolizing enzymes. After a 4-hour incubation, the end products from the combined reaction mixture, [¹³C6]galactose-1-phosphate, UDP-[¹³C2]galactose, and UDP-galactose, were simultaneously measured using UPLC-MS/MS. Substrates, products, and internal standards from the mixture of the three enzyme reactions were clearly separated in the UPLC-MS/MS system, with an injection cycle time of 10 min. Intra- and inter-assay imprecisions of the UPLC-MS/MS were 8.4-14.8% and 13.2-15.7% CV, respectively. Enzyme activities in DBSs from 37 normal individuals and 10 patients with enzyme deficiencies were analyzed. DBSs from galactosemia patients showed consistently lower enzyme activities as compared to those of normal individuals. In conclusion, multiplex enzyme assays using UPLC-MS/MS can be successfully applied to DBS analysis. This method allows a fast and effective second-tier test for newborns showing abnormal screening results.

  5. Changing Trends within the Population of Children Who Are Deaf or Hard of Hearing in Flanders (Belgium): Effects of 12 Years of Universal Newborn Hearing Screening, Early Intervention, and Early Cochlear Implantation

    ERIC Educational Resources Information Center

    De Raeve, Leo; Lichtert, Guido

    2012-01-01

    The purpose of this study is to show the changing trends within the population of children who are deaf and hard of hearing in Belgium over the last 12 years. The combination of Universal Newborn Hearing Screening programs, early intervention, and cochlear implants have tremendously influenced the education and support of children who are deaf or…

  6. [The mutation spectrum of the GJB2 gene in Belarussian patients with hearing loss. Results of pilot genetic screening of hearing impairment in newborns].

    PubMed

    Bliznets, E A; Marcul', D N; Khorov, O G; Markova, T G; Poliakov, A V

    2014-02-01

    A total of 111 unrelated probands and their 8 sibs from Grodno oblast (Belarus) with bilateral isolated sensorineural hearing impairment were studied for the presence of mutations in the connexin 26--GJB2gene. Mutations were detected in 51 probands (46% of the sample). A significantly higher frequency of the GJB2gene mutations was observed in familial cases of the disease with the autosomal recessive type of inheritance (in 78% of families). Detected peculiarities of the GJB2 gene mutation spectrum demonstrated that use of the algorithm, which was developed for Russian patients, is optimal for the molecular study of patients from Be- larus. In the sample of patients with hearing loss, the highest (among other similar samples studied in the world) allele frequency of c.313_326de114 mutation (7% out of all pathological GJB2 alleles) was registered; Polish origin of this deletion was suggested. It was demonstrated that detection of the GJB2 gene mutation on only one patient's chromosome is insufficient to confirm a molecular genetic diagnosis of hearing loss of the DFNB1 genetic type (autosomal recessive hearing loss caused by the GJB2 gene mutations). Pilot screening in the presence of GJB2 gene mutations in newborns from Grodno oblast was conducted. The material from 235 children was studied during the screening; nine heterozygous carriers of the mutation were found. The c.35delG mutation was detected in a homozygous state in a single newborn (hearing loss of moderate severity was subsequently audiologically confirmed in this child).

  7. A quantitative method for acylcarnitines and amino acids using high resolution chromatography and tandem mass spectrometry in newborn screening dried blood spot analysis.

    PubMed

    Miller, John H; Poston, Philip A; Karnes, H Thomas

    2012-08-15

    We have developed a high resolution liquid chromatographic separation with electrospray ionization (ESI) mass spectrometry detection for the combined analysis of twelve acylcarnitines and seven amino acids commonly measured in newborn screening heritable metabolic disorders. Samples were prepared by punching 3.2 mm disks out of dried blood spots and extracting with a mixture of methanol and 0.1% formic acid containing stable isotopically labeled internal standards. Analysis was performed on an UHPLC system using a HILIC amide, 2.1 mm × 50 mm, 1.7 μm column. A normal phase gradient, employing 10mM ammonium acetate in 90:10 acetonitrile/water for mobile phase B and 0.1% formic acid in water for mobile phase A, was used. Optimized multiple reaction monitoring (MRM) was used for detection of amino acids and acylcarnitines on a Waters Premier mass spectrometer. Quantification of analytes was performed using internal calibration by fortification of sodium heparin whole blood with analytes at appropriate levels to encompass the range around the reported cut-off values. The method was fully validated with respect to precision, accuracy, recovery, linearity, matrix suppression and extraction robustness. Precision and accuracy were evaluated over 3 days and determined to be acceptable with an overall precision within 10% and accuracy within 15% of theoretical for all analytes except for acetylcarnitne at one fortified level, which quantitated 21.8% lower than the expected value. This method is suitable as a second-tier test for newborn screening of specific disorders associated with abnormal levels of acylcarnitines and amino acids, potentially reducing false positive cases and shortening the time to diagnosis.

  8. What Is Carrier Screening?

    MedlinePlus

    ... Primary care providers Specialists Getting covered Research Basic science research Research in people ... screening Diagnostic testing Direct-to-consumer genetic testing Newborn screening Pharmacogenomic testing ...

  9. Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency in Greek newborns: the Mediterranean C563T mutation screening.

    PubMed

    Molou, Elina; Schulpis, Kleopatra H; Thodi, Georgia; Georgiou, Vassiliki; Dotsikas, Yannis; Papadopoulos, Konstantinos; Biti, Sofia; Loukas, Yannis L

    2014-04-01

    Glucose-6-Phosphate Dehydrogenase (G6PD) gene is located at the X-chromosome at Xq28 and the disease is recessively inherited predominantly in males. More than 400 variants have been proposed based on clinical and enzymatic studies. The aim of the current study was to identify C563T mutation in G6PD-deficient newborns and to correlate the enzyme residual activity with the presence of the mutation. Some 1189 full-term neonates aged 3-5 days old were tested for G6PD activity in dried blood spots from Guthrie cards using a commercial kit. DNA extraction from Guthrie cards and mutation identification among the deficient samples were performed with current techniques. A total of 92 (7.7%) newborns were G6PD-deficient. In 46 (50%), the mutation C563T was identified. The residual activity in C563T hemizygote males (n = 28) was statistically significantly lower (1.23 ± 0.93 U/g Hb) than that in non-C563T G6PD-deficient males (n = 25) (4.01 ± 1.20 U/g Hb, p < 0.0001) and in controls (13.6 ± 2.9 U/g Hb, p < 0.0001). In C563T heterozygote females, the estimated enzyme activity was lower than that determined in non-C563T females. Male C563T hemizygotes suffer from G6PD deficiency and severe neonatal jaundice. G6PD activity showed statistically significant correlation with total bilirubin blood levels.

  10. Trends in mortality and hospital admissions of sickle cell disease patients before and after the newborn screening program in Maranhão, Brazil

    PubMed Central

    Lima, Ana Ranoy Gomes; Ribeiro, Valdinar Sousa; Nicolau, Dario Itapary

    2014-01-01

    Objective To assess the impact of the implementation of neonatal screening on hospitalization and death rates due to sickle cell disease in patients from the state of Maranhão, Brazil. Methods A descriptive study was performed of all inpatients and deaths of patients with a diagnosis of sickle cell disease in Maranhão between 1999 and 2012. Data were collected from the Hospital Information System of the Brazilian National Health Service (SUS) and the Death Information System of the Ministry of Health. The implementation of newborn screening tests in Maranhão took place in 2005, and so the periods 1999–2005 (pre) and 2006–2012 (post) were analyzed for trend analysis using a multiple linear regression model. Fisher's exact test was used for the analysis of categorical variables and the Kruskal–Wallis test for continuous variables. Results The rate of hospitalization increased from 0.315 (pre) to 1.832 (post), indicating 5.82 times more admissions (p-value = 0.04). The mortality rate increased from 0.115 to 0.216, that is 1.88 times higher, but this was not statistically significant (p-value = 0.586). The median age at admission dropped from 11.4 years to 8.7 years (p-value = 0.0002), whereas the median age at death increased from 10 years to 14 years (p-value = 0.665). Conclusion The increases in the rates of hospitalization and death after the implementation of neonatal screening suggests that previously there was an underdiagnosis of sickle cell disease and that screening, along with other factors, increased “visibility” in the state of Maranhão. PMID:25638761

  11. Genetic counselling after carrier detection by newborn screening when one parent carries ΔF508 and the other R117H

    PubMed Central

    Curnow, L; Savarirayan, R; Massie, J

    2003-01-01

    Newborn screening (NBS) for cystic fibrosis (CF) has been carried out in Victoria, Australia since 1989. The primary screen is immunoreactive trypsinogen (IRT) followed by ΔF508 mutation analysis. As part of this process, carrier babies are detected and their parents are routinely offered carrier testing as part of their follow up. The ΔF508 parent is identified and the other parent has an extended mutation analysis performed in case they are also a carrier. One of the mutations in the extended analysis is R117H which is associated with a broad phenotypic range, from CF with suppurative lung disease, to no clinical disease. We present four healthy ΔF508 carrier babies identified by our NBS service with both parents identified as carriers, one ΔF508 and the other R117H. Owing to the variable phenotype associated with R117H we have developed an approach to this difficult genetic counselling situation. Centres offering or considering NBS for CF will need an approach to this problem. PMID:14500307

  12. Molecular genetic confirmatory testing from newborn screening samples for the common African-American, Asian Indian, Southeast Asian, and Chinese beta-thalassemia mutations.

    PubMed

    Bhardwaj, Urvashi; Zhang, Yao-Hua; Lorey, Fred; McCabe, Linda L; McCabe, Edward R B

    2005-04-01

    beta-Thalassemia is a serious health problem in the United States, especially in California, due to increased Asian immigration. Neonatal screening by using high-performance liquid chromatography (HPLC) or isoelectric focusing (IEF) may lead to confusion due to interactions of various hemoglobinopathies with beta-thalassemia. Our purpose was to develop single-tube multiplexed PCR assays using original neonatal screening specimens to identify the mutations responsible for beta-thalassemia in order to expedite diagnostic confirmation. Primers were designed for two to six common ethnic-specific mutations using the amplification refractory mutation system (ARMS). This multiplex ARMS approach was standardized using DNA samples with known mutations for beta-thalassemia in those of Asian (Southeast Asian, Chinese, and Asian Indian) and African-American descent. Specimens from African-American neonates were tested for two mutations (-88 and -29); Asian Indians for five mutations (IVSI-1, IVSI-5, codons (Cd) 41/42, Cd 8/9, and 619-bp deletion); Chinese, Taiwanese, and Southeast Asians for seven mutations (Cd 41/42, Cd 17, -28, IVSII-654, Cd 71/72, IVSI-5, and IVSI-1). We identified each of these beta-thalassemia mutations in multiplexed ARMS from positive control samples. We tested 25 anonymized dried blood specimens from neonates who had been diagnosed with beta-thalassemia and who also belonged to these ethnic groups. We detected a mutation specific to the neonate's ethnic group using the ARMS approach in nearly all specimens, and the results were confirmed by sequencing. Multiplexed ARMS for ethnic-specific beta-thalassemia mutations from the original newborn screening dried blood specimens is a rapid and efficient approach for diagnostic confirmation.

  13. Screening the High-Risk Newborn for Hearing Loss: The Crib-O-Gram v the Auditory Brainstem Response.

    ERIC Educational Resources Information Center

    Cox, L. Clarke

    1988-01-01

    Presented are a rationale for identifying hearing loss in infancy and a history of screening procedures. The Crib-O-Gram and auditory brainstem response (ABR) tests are evaluated for reliability, validity, and cost-effectiveness. The ABR is recommended, and fully automated ABR instrumentation, which lowers expenses for trained personnel and…

  14. PID comes full circle: applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders.

    PubMed

    van Zelm, Menno C; van der Burg, Mirjam; Langerak, Anton W; van Dongen, Jacques J M

    2011-01-01

    The vast majority of patients suffering from a primary immunodeficiency (PID) have defects in their T- and/or B-cell compartments. Despite advances in molecular diagnostics, in many patients no underlying genetic defect has been identified. B- and T-lymphocytes are unique in their ability to create a receptor by genomic rearrangement of their antigen receptor genes via V(D)J recombination. During this process, stable circular excision products are formed that do not replicate when the cell proliferates. Excision circles can be reliably quantified using real-time quantitative (RQ-)PCR techniques. Frequently occurring δREC-ψJα T-cell receptor excision circles (TRECs) have been used to assess thymic output and intronRSS-Kde recombination excision circles (KREC) to quantify B-cell replication history. In this perspective, we describe how TRECs and KRECs are formed during precursor - T- and B-cell differentiation, respectively. Furthermore, we discuss new insights obtained with TRECs and KRECs and specifically how these excision circles can be applied to support therapy monitoring, patient classification and newborn screening of PID.

  15. Simultaneous quantitation of hexacosanoyl lysophosphatidylcholine, amino acids, acylcarnitines, and succinylacetone during FIA–ESI–MS/MS analysis of dried blood spot extracts for newborn screening

    PubMed Central

    Haynes, Christopher A.; De Jesús, Víctor R.

    2016-01-01

    Objectives The goal of this study was to include the quantitation of hexacosanoyl lysophosphatidylcholine, a biomarker for X-linked adrenoleukodystrophy and other peroxisomal disorders, in the routine extraction and analysis procedure used to quantitate amino acids, acylcarnitines, and succinylacetone during newborn screening. Criteria for the method included use of a single punch from a dried blood spot, one simple extraction of the punch, no high-performance liquid chromatography, and utilizing tandem mass spectrometry to quantitate the analytes. Design and methods Dried blood spot punches were extracted with a methanolic solution of stable-isotope labeled internal standards, formic acid, and hydrazine, followed by flow injection analysis–electrospray ionization–tandem mass spectrometry. Results Quantitation of amino acids, acylcarnitines, and hexacosanoyl lysophosphatidylcholine using this combined method was similar to results obtained using two separate methods. Conclusions A single dried blood spot punch extracted by a rapid (45 min), simple procedure can be analyzed with high throughput (2 min per sample) to quantitate amino acids, acylcarnitines, succinylacetone, and hexacosanoyl lysophosphatidylcholine. PMID:26432925

  16. Breastfeeding and the anthropometric profile of children with sickle cell anemia receiving follow-up in a newborn screening reference service

    PubMed Central

    Nogueira, Zeni Drubi; Boa-Sorte, Ney; Leite, Maria Efigênia de Queiroz; Kiya, Márcia Miyuki; Amorim, Tatiana; da Fonseca, Silvana Fahel

    2015-01-01

    OBJECTIVE: To study the breastfeeding history (BF) and the anthropometric status of children with Sickle Cell Disease (SCD). METHODS: A cross-sectional study of 357 children with SCD aged between 2 and 6 years, regularly followed at a Newborn Screening Reference Service (NSRS) between November 2007 and January 2009. The outcome was anthropometric status and the exposures were: BF pattern, type of hemoglobinopathy and child's age and gender. RESULTS: The mean (SD) age was 3.7 (1.1) years, 52.9% were boys and 53.5% had SCA (hemoglobin SS). The prevalence of exclusive breastfeeding (EBR) up to six months of age was 31.5%, the median EBR times (p25-p75) was 90.0 (24.0-180.0) days and the median weaning ages (p25-p75) was 360.0 (90.0-720.0) days respectively. Normal W/H children experienced EBR for a mean duration almost four times longer than malnourished children (p=0.01), and were weaned later (p<0.05). Height deficit was found in 5.0% of children, while all the children with severe short stature had had SCA (hemoglobin SS) and were older than 4 years of age. CONCLUSIONS: EBF time and weaning age were greater than that found in the literature, which is a possible effect of the multidisciplinary follow-up. Duration of EBF and later weaning were associated with improved anthropometric indicators. PMID:25662563

  17. Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh’s disease

    PubMed Central

    Stiles, Ashlee R.; Ferdinandusse, Sacha; Besse, Arnaud; Appadurai, Vivek; Leydiker, Karen B.; Cambray-Forker, E.J.; Bonnen, Penelope E.; Abdenur, Jose E.

    2016-01-01

    Purpose 3-hydroxyisobutryl-CoA hydrolase (HIBCH) deficiency is a rare disorder of valine metabolism. We present a family with the oldest reported subjects with HIBCH deficiency and provide support that HIBCH deficiency should be included in the differential for elevated hydroxy-C4-carnitine in newborn screening (NBS). Methods Whole exome sequencing (WES) was performed on one affected sibling. HIBCH enzymatic activity was measured in patient fibroblasts. Acylcarnitines were measured by electrospray ionization tandem mass spectrometry (ESI-MS/MS). Disease incidence was estimated using a cohort of 61,434 individuals. Results Two siblings presented with infantile-onset, progressive neurodegenerative disease. WES identified a novel homozygous variant in HIBCH c.196C>T; p.Arg66Trp. HIBCH enzymatic activity was significantly reduced in patients’ fibroblasts. Acylcarnitine analysis showed elevated hydroxy-C4-carnitine in blood spots of both affected siblings, including in their NBS cards, while plasma acylcarnitines were normal. Estimates show HIBCH deficiency incidence as high as 1 in ~130,000 individuals. Conclusion We describe a novel family with HIBCH deficiency at the biochemical, enzymatic and molecular level. Disease incidence estimates indicate HIBCH deficiency may be under-diagnosed. This together with the elevated hydroxy-C4-carnitine found in the retrospective analysis of our patient’s NBS cards suggests that this disorder could be screened by NBS programs and should be added to the differential diagnosis for elevated hydroxy-C4-carnitine which is already measured in most NBS programs using MS/MS. PMID:26026795

  18. Highlights of the new WHO Report on Newborn and Infant Hearing Screening and implications for developing countries.

    PubMed

    Olusanya, Bolajoko O

    2011-06-01

    The Report summarizes the outcome of a recent informal consultation convened by the World Health Organization (WHO) in 2009 pursuant to the 1995 resolution of the World Health Assembly (WHA) urging Member States to promote programs for early hearing detection in babies and infants. The consultation was geared towards reaching global consensus on key principles on this subject based on the experiences and contributions of leading experts from various world regions and across relevant disciplines. After reviewing the current evidence on early hearing detection in babies and infants the Report outlined guiding principles for action by Member States covering issues such as etiology, case definition of hearing impairment, options for screening, program implementation, cost-effectiveness as well as policy and legislation. The need for context-specific adaptations of current practices in the developed world to facilitate the development of effective and culturally appropriate early hearing detection programs in developing countries was emphasized. The potential role of private-public partnerships including non-governmental organizations in designing and implementing hearing screening programs was highlighted while recognizing the necessity to develop requisite support services for infants detected with hearing impairment. Overall, the Report is likely to stimulate greater interest and progress towards early hearing detection initiatives particularly in countries where necessary actions are yet to be taken to implement the WHA resolution. However, any effort in this direction must be backed by greater professional engagement, appropriate national policies and strong involvement of WHO regional offices in developing countries.

  19. Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening.

    PubMed

    Brown, Lucinda; Xu-Bayford, Jinhua; Allwood, Zoe; Slatter, Mary; Cant, Andrew; Davies, E Graham; Veys, Paul; Gennery, Andrew R; Gaspar, H Bobby

    2011-03-17

    Severe combined immunodeficiency (SCID) carries a poor prognosis without definitive treatment by hematopoietic stem cell transplantation. The outcome for transplantation varies and is dependent on donor status and the condition of the child at the time of transplantation. Diagnosis at birth may allow for better protection of SCID babies from infection and improve transplantation outcome. In this comparative study conducted at the 2 designated SCID transplantation centers in the United Kingdom, we show that SCID babies diagnosed at birth because of a positive family history have a significantly improved outcome compared with the first presenting family member. The overall improved survival of more than 90% is related to a reduced rate of infection and significantly improved transplantation outcome irrespective of donor choice, conditioning regimen used, and underlying genetic diagnosis. Neonatal screening for SCID would significantly improve the outcome in this otherwise potentially devastating condition.

  20. Thrush in newborns

    MedlinePlus

    Candidiasis - oral - newborn; Oral thrush - newborn; Fungal infection - mouth - newborn; Candida - oral - newborn ... yeast called Candida albicans grows in a baby's mouth. Germs called bacteria and fungi naturally grow in ...

  1. Anemia in the Newborn

    MedlinePlus

    ... Cancer Caregivers Help Themselves Additional Content Medical News Anemia in the Newborn By Arthur E. Kopelman, MD, ... Prematurity (ROP) Necrotizing Enterocolitis (NEC) Jaundice in Newborns Anemia in the Newborn Polycythemia in the Newborn Thyroid ...

  2. Genome-Wide Linkage Screen for Systolic Blood Pressure in the Veterans Administration Genetic Epidemiology Study (VAGES) of Mexican-Americans and Confirmation of a Major Susceptibility Locus on Chromosome 6q14.1

    PubMed Central

    Puppala, Sobha; Coletta, Dawn K.; Schneider, Jennifer; Hu, Shirley L.; Farook, Vidya S.; Dyer, Thomas D.; Arya, Rector; Blangero, John; Duggirala, Ravindranath; DeFronzo, Ralph A.; Jenkinson, Christopher P.

    2011-01-01

    Objective Hypertension or high blood pressure is a strong correlate of diseases such as obesity and type 2 diabetes. We conducted a genome-wide linkage screen to identify susceptibility genes influencing systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Mexican-Americans from the Veterans Administration Genetic Epidemiology Study (VAGES). Methods Using data from 1,089 individuals distributed across 266 families, we performed a multipoint linkage analysis to localize susceptibility loci for SBP and DBP by applying two models. In model 1, we added a sensible constant to the observed BP values in treated subjects [Tobin et al.; Stat Med 2005;24:2911–2935] to account for antihypertensive use (i.e. 15 and 10 mm Hg to SBP and DBP values, respectively). In model 2, we fixed values of 140 mm Hg for SBP and 90 mm Hg for DBP, if the treated values were less than the standard referenced treatment thresholds of 140/90 mm Hg for hypertensive status. However, if the observed treated BP values were found to be above these standard treatment thresholds, the actual observed treated BP values were retained in order not to reduce them by substitution of the treatment threshold values. Results The multipoint linkage analysis revealed strong linkage signals for SBP compared with DBP. The strongest evidence for linkage of SBP (model 1, LOD = 5.0; model 2, LOD = 3.6) was found on chromosome 6q14.1 near the marker D6S1031 (89 cM) in both models. In addition, some evidence for SBP linkage occurred on chromosomes 1q, 4p, and 16p. Most importantly, our major SBP linkage finding on chromosome 6q near marker D6S1031 was independently confirmed in a Caucasian population (LOD = 3.3). In summary, our study found evidence for a major locus on chromosome 6q influencing SBP levels in Mexican-Americans. PMID:21293138

  3. Newborn jaundice

    MedlinePlus

    ... be very tired and feed poorly. Exams and Tests Health care providers will watch for signs of jaundice at the hospital. After the newborn goes home, family members will usually spot the ... with a blood test. Many hospitals check total bilirubin levels on all ...

  4. Buen Comienzo, Buen Futuro: Su Recien Nacido. (Healthy Start, Grow Smart: Your Newborn).

    ERIC Educational Resources Information Center

    Department of Education, Washington, DC.

    This booklet offers guidance to parents in caring for their newborn babies. Advice is given on the following topics: (1) newborn health screening; (2) what a healthy newborn looks like; (3) newborn reflexes; (4) baby checkups; (5) fathers' role; (6) the baby blues; (7) sleeping position; (8) breast milk; (9) breast feeding; (10) bottle feeding;…

  5. Sleep and Newborns

    MedlinePlus

    ... 12-Month-Old Bed-Sharing All About Sleep Sleep and Your 1- to 2-Year-Old Communication and Your Newborn Medical Care and Your Newborn Your Newborn's Growth Choosing Safe Baby Products: Cribs Flat Head Syndrome ( ...

  6. Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients.

    PubMed

    Raskin, Salmo; Pereira-Ferrari, Lilian; Reis, Francisco Caldeira; Abreu, Fernando; Marostica, Paulo; Rozov, Tatiana; Cardieri, Joselina; Ludwig, Norberto; Valentin, Lairton; Rosario-Filho, Nelson Augusto; Camargo Neto, Eurico; Lewis, Eduardo; Giugliani, Roberto; Diniz, Edna Maria Albuquerque; Culpi, Lodercio; Phillip, John Atlas; Chakraborty, Ranajit

    2008-01-01

    Cystic Fibrosis (CF) is one of the most common single-gene defects in European descent populations with an incidence of about 1 in every 2500 live births and carrier frequency of approximately 1 in 25. The most common mutation at the CF transmembrane conductance regulator (CFTR) gene is a deletion (p.F508del) of the phenylalanine codon 508; its frequency, however, is not the same throughout the world. The purpose of this paper is to document an application of a two-tier survey design in different states of Brazil, from which regional differences of the incidence of CF and frequency of CF-causing mutation(s) carriers can be for the first time estimated. We present data on genotype distributions in reference to p.F508del mutation in samples of newborns, adult controls and CF patients from five Brazilian states, in which a total of 2683 newborns born to Brazilian white parents and 500 African-Brazilians adult controls were screened, as well as 300 CF patients (262 European descents and 38 African descents) were genotyped. Our results suggest that the CF-incidence in different parts of Brazil may differ by almost 20-fold. For the five different states as a whole, nearly 48% of the CF-alleles carry the p.F508del mutation, which places the estimates of disease incidence and carrier frequencies for the Brazilian European descents as 1 in 7576 live births and 2.3%, respectively. The implications for prevention of CF and other rare Mendelian diseases through such surveys of mutation screening are discussed.

  7. Hormonal effects in newborns

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/001911.htm Hormonal effects in newborns To use the sharing features on this page, please enable JavaScript. Hormonal effects in newborns occur because in the womb babies ...

  8. Senses and Your Newborn

    MedlinePlus

    ... the Classroom What Other Parents Are Reading Your Child's Development (Birth to 3 Years) Feeding Your 1- to ... Other Senses: 1 Month Your Newborn's Growth Your Child's Development: Newborn Contact Us Print Resources Send to a ...

  9. Communication and Your Newborn

    MedlinePlus

    ... the Classroom What Other Parents Are Reading Your Child's Development (Birth to 3 Years) Feeding Your 1- to ... Sleep and Newborns Jaundice in Healthy Newborns Your Child’s Development: 3-5 Days Contact Us Print Resources Send ...

  10. Feeding Your Newborn

    MedlinePlus

    ... you choose to breastfeed or formula feed. About Breastfeeding Breastfeeding your newborn has many advantages. Perhaps most ... to care for her newborn. continue Limitations of Breastfeeding With all the good things known about breastfeeding, ...

  11. Your Child's Development: Newborn

    MedlinePlus

    ... Your 1- to 2-Year-Old Your Child's Development: Newborn KidsHealth > For Parents > Your Child's Development: Newborn ... changed; or goes to sleep ) Movement and Physical Development moves in response to sights and sounds rooting ...

  12. Low blood sugar - newborns

    MedlinePlus

    ... medlineplus.gov/ency/article/007306.htm Low blood sugar - newborns To use the sharing features on this page, please enable JavaScript. A low blood sugar level in newborn babies is also called neonatal ...

  13. Skin findings in newborns

    MedlinePlus

    Newborn skin characteristics; Infant skin characteristics; Neonatal care - skin ... the first few weeks of the baby's life. Newborn skin will vary, depending on the length of the pregnancy. Premature infants have thin, transparent skin. The skin of a ...

  14. A molecular epidemiologic study of thalassemia using newborns' cord blood in a multiracial Asian population in Singapore: results and recommendations for a population screening program.

    PubMed

    Kham, S K; Yin, Shirley Kham Kow; Quah, Thuan Chong; Loong, Ai Mei; Tan, Poh Lin; Fraser, Angus; Chong, S S; Chuan, Samuel Chong Siong; Yeoh, A E; Eng-Juh, Allen Yeoh

    2004-12-01

    DNA technology provides a new avenue to perform neonatal screening tests for single-gene diseases in populations of high frequency. Thalassemia is one of the high-frequency single-gene disorders affecting Singapore and many countries in the malaria belt. The authors explored the feasibility of using PCR-based diagnostic screening on 1,116 unselected sequential cord blood samples for neonatal screening. The cord blood samples were screened for the most common reported alpha- and beta-thalassemia mutations in each ethnic group (Chinese, Malays, and Indians) in a multiracial population. The carrier frequency for alpha-thalassemia mutations was about 6.4% in the Chinese (alpha deletions = 3.9%, alpha deletions = 2.5%), 4.8% in Malays, and 5.2% in Indians. Only alpha deletions were observed in the Chinese. The carrier frequency for beta-thalassemia mutations was 2.7% in the Chinese, 6.3% in Malays, and 0.7% in Indians. Extrapolating to the population distribution of Singapore, the authors found a higher overall expected carrier frequency for alpha- and beta-thalassemia mutations of 9% compared with a previous population study of 6% by phenotype. The highly accurate results make this molecular epidemiologic screening an ideal method to screen for and prevent severe thalassemia in high-risk populations.

  15. Newborn jaundice - discharge

    MedlinePlus

    ... Jaundice of the newborn - discharge; Neonatal hyperbilirubinemia - discharge; Breastfeeding jaundice - discharge; Physiologic jaundice - discharge Images Exchange transfusion - series Infant jaundice References Kaplan M, ...

  16. Communication and Your Newborn

    MedlinePlus

    ... Old Feeding Your 1- to 2-Year-Old Communication and Your Newborn KidsHealth > For Parents > Communication and Your Newborn A A A What's in ... first smile — a welcome addition to your baby's communication skills! continue What Should I Do? As soon ...

  17. Your Child's Development: Newborn

    MedlinePlus

    ... Feeding Your 1- to 2-Year-Old Your Child's Development: Newborn KidsHealth > For Parents > Your Child's Development: Newborn Print A A A en español El ... the sole of the foot Social and Emotional Development soothed by a parent's ... When to Talk to Your Doctor Every child develops at his or her own pace, but ...

  18. Amebiasis in the newborn.

    PubMed

    Güven, Ayla

    2003-05-01

    Infestation with Entamoeba histolytica is especially common in areas with low socioeconomic status. Extra intestinal invasive involvement is more frequent in young children with significant mortality. This disease is rarely reported in the newborns. This 19-day-old newborn who was infected with orally given surgar solution is presented. He was successfully treated with omidazole.

  19. Linkage Maps in Pea

    PubMed Central

    Ellis, THN.; Turner, L.; Hellens, R. P.; Lee, D.; Harker, C. L.; Enard, C.; Domoney, C.; Davies, D. R.

    1992-01-01

    We have analyzed segregation patterns of markers among the late generation progeny of several crosses of pea. From the patterns of association of these markers we have deduced linkage orders. Salient features of these linkages are discussed, as is the relationship between the data presented here and previously published genetic and cytogenetic data. PMID:1551583

  20. Growth and Your Newborn

    MedlinePlus

    ... dimpled thighs was many people's picture of a healthy newborn. But a baby born much larger than average may have special medical problems that need attention. Some exceptionally large babies — especially those born to ...

  1. Senses and Your Newborn

    MedlinePlus

    ... especially mom's and dad's, are a baby's favorite "music." Your baby already knows that this is where ... your baby react to soft lullabies or other music? Even if your child passed the newborn hearing ...

  2. Growth and Your Newborn

    MedlinePlus

    ... the Classroom What Other Parents Are Reading Your Child's Development (Birth to 3 Years) Feeding Your 1- to ... Your Child's Growth Breastfeeding vs. Formula Feeding Your Child's Development: Newborn Contact Us Print Resources Send to a ...

  3. Jaundice in Healthy Newborns

    MedlinePlus

    ... Development Infections Diseases & Conditions Pregnancy & Baby Nutrition & Fitness Emotions & Behavior School & Family Life First Aid & Safety Doctors & ... common condition in newborns, refers to the yellow color of the skin and whites of the eyes ...

  4. Jaundice in Healthy Newborns

    MedlinePlus

    ... eyes that happens when there is too much bilirubin in the blood. Bilirubin (bill-uh-ROO-bin) is produced by the ... liquid that helps with digestion). Jaundice happens when bilirubin builds up faster than a newborn's liver can ...

  5. Transient tachypnea - newborn

    MedlinePlus

    TTN; Wet lungs - newborns; Retained fetal lung fluid; Transient RDS; Prolonged transition; Neonatal - transient tachypnea ... As the baby grows in the womb, the lungs make a special fluid. This fluid fills the ...

  6. Genetic Disorders in the Newborn Infant

    PubMed Central

    Meschino, Wendy S.; Summers, Anne M.

    1988-01-01

    Genetic disorders in the neonate should be suspected in a number of different clinical situations, ranging from that of an infant with dysmorphic features and multiple congenital malformations to that of a previously well newborn who becomes acutely ill. An approach for the primary-care physician to the initial investigation and management of these situations is outlined. In addition neonatal screening tests for metabolic disorders and congenital hypothyroidism are briefly discussed. PMID:21253098

  7. Policy issues and stakeholder concerns regarding the storage and use of residual newborn dried blood samples for research.

    PubMed

    Rothwell, Erin; Anderson, Rebecca; Botkin, Jeffrey

    2010-02-01

    Newborn screening is an important public health programs in the United States. Over 4 million infants are screened each year for a number of conditions. There is a growing need for more explicit state policies governing the storage and research use of residual newborn samples. This paper provides an overview of newborn screening and issues related to policies of residual newborn samples as well as attitudes and opinions from stakeholders. Three groups (n = 21) were conducted with stakeholders: an African American group, a Pediatrician group and a Mothers of young children group. Despite the differences between these groups, consistent themes emerged from all groups that may be relevant for policy development governing the storage and use of residual newborn samples. The data from this exploratory study suggest that future policy developments with the newborn screening program warrant further public input on these topics.

  8. Newborn Screening Tests for your Baby

    MedlinePlus

    ... decides which tests are required. Ask your baby’s health care provider which tests your baby will have. If your baby has ... state requires different tests, so ask your baby’s health care provider which tests your baby will have. You also can visit ...

  9. Newborn Screening - Multiple Languages: MedlinePlus

    MedlinePlus

    ... اختبار السمع لطفلك - العربية Bilingual PDF Health Information Translations Bosnian (Bosanski) Hearing Test for Your Baby Kontrola ... vaše bebe - Bosanski (Bosnian) Bilingual PDF Health Information Translations Chinese - Simplified (简体中文) Hearing Test for Your Baby ...

  10. Save Babies through Screening Foundation

    MedlinePlus

    ... and institutional policymakers. Our educational programs emphasize the importance of newborn screening through comprehensive testing to identify ... unable to break down a building block of protein (an amino acid) known as phenylalanine (Phe) because ...

  11. Intragroup Emotions: Physiological Linkage and Social Presence.

    PubMed

    Järvelä, Simo; Kätsyri, Jari; Ravaja, Niklas; Chanel, Guillaume; Henttonen, Pentti

    2016-01-01

    We investigated how technologically mediating two different components of emotion-communicative expression and physiological state-to group members affects physiological linkage and self-reported feelings in a small group during video viewing. In different conditions the availability of second screen text chat (communicative expression) and visualization of group level physiological heart rates and their dyadic linkage (physiology) was varied. Within this four person group two participants formed a physically co-located dyad and the other two were individually situated in two separate rooms. We found that text chat always increased heart rate synchrony but HR visualization only with non-co-located dyads. We also found that physiological linkage was strongly connected to self-reported social presence. The results encourage further exploration of the possibilities of sharing group member's physiological components of emotion by technological means to enhance mediated communication and strengthen social presence.

  12. Intragroup Emotions: Physiological Linkage and Social Presence

    PubMed Central

    Järvelä, Simo; Kätsyri, Jari; Ravaja, Niklas; Chanel, Guillaume; Henttonen, Pentti

    2016-01-01

    We investigated how technologically mediating two different components of emotion—communicative expression and physiological state—to group members affects physiological linkage and self-reported feelings in a small group during video viewing. In different conditions the availability of second screen text chat (communicative expression) and visualization of group level physiological heart rates and their dyadic linkage (physiology) was varied. Within this four person group two participants formed a physically co-located dyad and the other two were individually situated in two separate rooms. We found that text chat always increased heart rate synchrony but HR visualization only with non-co-located dyads. We also found that physiological linkage was strongly connected to self-reported social presence. The results encourage further exploration of the possibilities of sharing group member's physiological components of emotion by technological means to enhance mediated communication and strengthen social presence. PMID:26903913

  13. Gene therapy for newborns.

    PubMed

    Kohn, D B; Parkman, R

    1997-07-01

    Application of gene therapy to treat genetic and infectious diseases may have several advantages if performed in newborns. Because of the minimal adverse effect of the underlying disease on cells of the newborn, the relatively small size of infants, and the large amount of future growth, gene therapy may be more successful in newborns than in older children or adults. The presence of umbilical cord blood from newborns provides a unique and susceptible target for the genetic modification of hematopoietic stem cells. In our first trial of gene therapy in newborns, we inserted a normal adenosine deaminase gene into umbilical cord blood cells of three neonates with a congenital immune deficiency. The trial demonstrated the successful transduction and engraftment of stem cells, which continue to contribute to leukocyte production more than 3 years later. A similar approach may be taken to insert genes that inhibit replication of HIV-1 into umbilical cord blood cells of HIV-1-infected neonates. Many other metabolic and infectious disorders could be treated by gene therapy during the neonatal period if prenatal diagnoses are made and the appropriate technical and regulatory requirements have been met.

  14. Assessment of Risk in Newborns.

    ERIC Educational Resources Information Center

    Umansky, Warren; Seaton, Jane B.

    1979-01-01

    To assess risk status of newborns, data were collected on 776 newborns using a high risk register. Analysis of high risk characteristics revealed 261 primary risk incidents in the sample and 292 secondary risk factors. (Author/PHR)

  15. Jaundice in the newborn.

    PubMed

    Agrawal, R; Aggarwal, R; Deorari, A K; Paul, V K

    2001-10-01

    Hyperbilirubinemia is the commonest morbidity in the neonatal period and 5-10% of all newborns require intervention for pathological jaundice. Neonates on exclusive breast-feeding have a different pattern of physiological jaundice as compared to artificially fed babies. Guidelines from American Academy of Pediatrics (AAP) for management of jaundice in a normal term newborn have been included in the protocol. Separate guidelines have been provided for the management of jaundice in sick term babies, preterm and low birth weight babies, for jaundice secondary to hemolysis and for prolonged hyperbilirubinemia. Although hour specific bilirubin charts are available, these have to be validated in Indian infants before they are accepted for widespread use.

  16. [Increased incidence of developmental hip dysplasia in hypertrophic newborn infants].

    PubMed

    Peschgens, T; Skopnik, H; Casser, H R; Rauschning-Sikora, K; Heimann, G

    1993-01-01

    "Lack of space" in utero is considered to be a major factor in the aetiology of the congenital dislocation of the hip. This study tries to answer the question whether hypertrophy of a newborn has to be regarded as a risk factor on the basis of the principle mentioned above. The results of postnatal clinical and sonographical examination performed on 98 large-for-gestational-age (LGA-) newborn were compared to those performed on 310 newborn children during a non selective screening program. Among the LGA-newborn pathological hip joints were found more often mainly female LGA-newborn infants were affected. It seemed that the birth weight did not correlate to the extent of the retardation of the hip joint development. It was again confirmed that the restriction to only clinical diagnostic procedures in the neonatal period is not effective in the early diagnosis of the malformation. Hypertrophy of a newborn has to be considered as a risk factor behind the development of congenital dislocation of the hip. It is recommended to examine all LGA-newborn infants post partum by clinical and most importantly also by sonographical means to recognize a retardation of hip joint development.

  17. [Recommendations for the care of healthy newborn infants].

    PubMed

    Figueras Aloy, J; García Alix, A; Alomar Ribes, A; Blanco Bravo, D; Esqué Ruiz, M T; Fernández Lorenzo, J R

    2001-08-01

    This article makes certain recommendations on the care of the healthy newborn. Firstly, we discuss the situations that should be reported to the pediatrician/neonatologist and the reasons why the presence of these specialists is required in the delivery room (urgent or elective cesarean section, preterm labor). Secondly, we discuss the most important guidelines to follow in the delivery room and after birth. Concerning care in the delivery room, we stress the importance of care of the newborn (especially of the umbilical cord), bonding between the mother and child, identification of the newborn, assessment of neonatal adaptation to extrauterine life, prevention of ophthalmia neonatorum and hypoprothrombinemia, placing the baby correctly in the crib and hepatitis B prophylaxis. Concerning the postnatal period, we recommend feeding (promotion of breast feeding), rooming-in with the mother if the newborn is hospitalized in the nursery screening for hypoacousia and metabolic diseases, and discharge with special surveillance in cases of early discharge.

  18. Newborn Black Holes

    ERIC Educational Resources Information Center

    Science Teacher, 2005

    2005-01-01

    Scientists using NASA's Swift satellite say they have found newborn black holes, just seconds old, in a confused state of existence. The holes are consuming material falling into them while somehow propelling other material away at great speeds. "First comes a blast of gamma rays followed by intense pulses of x-rays. The energies involved are much…

  19. Nail care for newborns

    MedlinePlus

    ... MedlinePlus GO GO About MedlinePlus Site Map FAQs Customer Support Health Topics Drugs & Supplements Videos & Tools Español You Are Here: Home → Medical Encyclopedia → Nail care for newborns URL of this page: //medlineplus.gov/ ...

  20. Linkage results in Schizophrenia

    SciTech Connect

    Baron, M.

    1996-04-09

    In setting a model for replication studies, the collective effort by the various investigators is praiseworthy. The linkage reported is intriguing, but given the aforementioned caveats it would be premature to dub it {open_quotes}significant -- and, probably, confirmed.{close_quotes} The extent to which a real genetic effect exists on chromosome 6p24-22 remains to be seen. Compelling confirmation, which further study might proffer, would be a welcome boost to a fledgling enterprise, where other findings of promise have faltered or failed to gain unequivocal support. The caution advised in this commentary may guide the design and interpretation of other linkage studies in psychiatric disorders.

  1. 78 FR 955 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-01-07

    ... HUMAN SERVICES Health Resources and Services Administration Secretary's Advisory Committee on Heritable... Secretary of the Department of Health and Human Services regarding the development of newborn screening... comprehensive guidelines supported by the Health Resources and Services Administration. Pursuant to section...

  2. The Market Linkage.

    ERIC Educational Resources Information Center

    Fuchs, Victor E.

    The Market Linkage Project (ML) for Special Education and the Basic Skills Validation and Marketing Program are two federally sponsored marketing projects developed under contract by LINC Resources, Inc., a professional marketing organization, for the U.S. Department of Education. LINC developed the marketing programs to provide the option for the…

  3. Advancing newborn health: The Saving Newborn Lives initiative

    PubMed Central

    Tinker, A.; Parker, R.; Lord, D.; Grear, K.

    2009-01-01

    Until recently, newborn health was virtually absent from the global health agenda. Now, assistance agencies, national governments and non-governmental organisations are increasingly addressing this previously neglected issue of close to four million newborns dying every year. The experience of the Saving Newborn Lives initiative documents some of the progress that has been made and the challenges and opportunities that lie ahead. Since the start of the initiative in 2000, targeted research, focused on overcoming the key barriers to improved newborn survival, has demonstrated low-cost, community-based interventions and strategies that can significantly reduce newborn mortality. Building on what has been learned from this and other efforts to date, the challenge now is to reach the millions of newborns still at risk. PMID:19851911

  4. Newborn male circumcision

    PubMed Central

    Sorokan, S Todd; Finlay, Jane C; Jefferies, Ann L

    2015-01-01

    The circumcision of newborn males in Canada has become a less frequent practice over the past few decades. This change has been significantly influenced by past recommendations from the Canadian Paediatric Society and the American Academy of Pediatrics, who both affirmed that the procedure was not medically indicated. Recent evidence suggesting the potential benefit of circumcision in preventing urinary tract infection and some sexually transmitted infections, including HIV, has prompted the Canadian Paediatric Society to review the current medical literature in this regard. While there may be a benefit for some boys in high-risk populations and circumstances where the procedure could be considered for disease reduction or treatment, the Canadian Paediatric Society does not recommend the routine circumcision of every newborn male. PMID:26435672

  5. Gingival Cyst of Newborn.

    PubMed

    Moda, Aman

    2011-01-01

    Gingival cyst of newborn is an oral mucosal lesion of transient nature. Although it is very common lesion within 3 to 6 weeks of birth, it is very rare to visualize the lesion thereafter. Presented here is a case report of gingival cyst, which was visible just after 15 days of birth. Clinical diagnoses of these conditions are important in order to avoid unnecessary therapeutic procedure and provide suitable information to parents about the nature of the lesion.

  6. Linkages among reproductive health, maternal health, and perinatal outcomes.

    PubMed

    Bhutta, Zulfiqar A; Lassi, Zohra S; Blanc, Ann; Donnay, France

    2010-12-01

    Some interventions in women before and during pregnancy may reduce perinatal and neonatal deaths, and recent research has established linkages of reproductive health with maternal, perinatal, and early neonatal health outcomes. In this review, we attempted to analyze the impact of biological, clinical, and epidemiologic aspects of reproductive and maternal health interventions on perinatal and neonatal outcomes through an elucidation of a biological framework for linking reproductive, maternal and newborn health (RHMNH); care strategies and interventions for improved perinatal and neonatal health outcomes; public health implications of these linkages and implementation strategies; and evidence gaps for scaling up such strategies. Approximately 1000 studies (up to June 15, 2010) were reviewed that have addressed an impact of reproductive and maternal health interventions on perinatal and neonatal outcomes. These include systematic reviews, meta-analyses, and stand-alone experimental and observational studies. Evidences were also drawn from recent work undertaken by the Child Health Epidemiology Reference Group (CHERG), the interconnections between maternal and newborn health reviews identified by the Global Alliance for Prevention of Prematurity and Stillbirth (GAPPS), as well as relevant work by the Partnership for Maternal, Newborn and Child Health. Our review amply demonstrates that opportunities for assessing outcomes for both mothers and newborns have been poorly realized and documented. Most of the interventions reviewed will require more greater-quality evidence before solid programmatic recommendations can be made. However, on the basis of our review, birth spacing, prevention of indoor air pollution, prevention of intimate partner violence before and during pregnancy, antenatal care during pregnancy, Doppler ultrasound monitoring during pregnancy, insecticide-treated mosquito nets, birth and newborn care preparedness via community-based intervention

  7. [Bednar's aphthae in newborn].

    PubMed

    Fariñas Salto, Mercedes; Menéndez Hernando, Cristina; Martín Molina, Raquel; Galán Gómez, Víctor; García de Pedro, Fernando J

    2017-02-01

    The description of the Bednar's ulcer is uncommon in the current literature. It has been associated with the traumatic effect of the bottle's nipple and/or no orthodontic soothers while breastfeeding. We present a newborn of 20 days of life attended at the emergency room for irritability, with the only finding on physical examination of two oral ulcers. We describe the clinical presentation, evolution and treatment. The normality of the diagnostic test, clinical characteristics and evolution lead to the diagnosis of Bednar´s ulcer.

  8. Management of the depressed newborn.

    PubMed

    Welch, K A; Philips, J B

    1984-03-01

    The experienced obstetrician knows that depressed neonates do not always herald their coming, and that the potential liability for failure to intervene promptly is great. It is imperative that all personnel involved in the delivery and care of newborns be familiar with these principles of newborn resuscitation.

  9. Prevalence of toxoplasma infection in Mexican newborns and children: a systematic review from 1954 to 2009.

    PubMed

    Galvan-Ramírez, Ma de la Luz; Troyo-Sanroman, Rogelio; Roman, Sonia; Bernal-Redondo, Rosamaría; Vázquez Castellanos, José Luís

    2012-01-01

    Introduction. Recent studies in Mexico have shown that from 20/10,000 to 58/10,000 newborns with Toxoplasma infection could be undetected. The aim of this study was to determine the weighed prevalence of T. gondii infection and describe the epidemiological transition of infection in newborns. Methods. Research literature reporting Toxoplasma infection prevalence in Mexican newborns and children were searched in five international databases. Weighted prevalence was calculated by inverse variance-weighted method in asymptomatic and symptomatic study groups, and the epidemiological transition was estimated by a lineal regression analysis. Results. The weighed prevalence in 4833 asymptomatic newborns was 0.616%, CI95% (0.396%-0.835%) (P < 0.001), whereas, among 895 symptomatic newborns, the weighed prevalence was 3.02%, CI 95% (1.91%-4.1%) (P < 0.001). A downward trend of 0.25%/year represented an accumulated decrease of -13,75% in the prevalence in the symptomatic newborns throughout 55 years, whereas, in the asymptomatic children, the prevalence was similar over the course of the years. Conclusion. The high-weighted prevalence of congenital Toxoplasma infection in newborns justifies that Toxoplasma gondii testing be included in the screening programs for women during pregnancy and newborns in Mexico. A rapid diagnosis and treatment strategy could aid in limiting a potential damage to the newborns.

  10. Prevalence of Toxoplasma Infection in Mexican Newborns and Children: A Systematic Review from 1954 to 2009

    PubMed Central

    Galvan-Ramírez, Ma. de la Luz; Troyo-Sanroman, Rogelio; Roman, Sonia; Bernal-Redondo, Rosamaría; Vázquez Castellanos, José Luís

    2012-01-01

    Introduction. Recent studies in Mexico have shown that from 20/10,000 to 58/10,000 newborns with Toxoplasma infection could be undetected. The aim of this study was to determine the weighed prevalence of T. gondii infection and describe the epidemiological transition of infection in newborns. Methods. Research literature reporting Toxoplasma infection prevalence in Mexican newborns and children were searched in five international databases. Weighted prevalence was calculated by inverse variance-weighted method in asymptomatic and symptomatic study groups, and the epidemiological transition was estimated by a lineal regression analysis. Results. The weighed prevalence in 4833 asymptomatic newborns was 0.616%, CI95% (0.396%–0.835%) (P < 0.001), whereas, among 895 symptomatic newborns, the weighed prevalence was 3.02%, CI 95% (1.91%–4.1%) (P < 0.001). A downward trend of 0.25%/year represented an accumulated decrease of −13,75% in the prevalence in the symptomatic newborns throughout 55 years, whereas, in the asymptomatic children, the prevalence was similar over the course of the years. Conclusion. The high-weighted prevalence of congenital Toxoplasma infection in newborns justifies that Toxoplasma gondii testing be included in the screening programs for women during pregnancy and newborns in Mexico. A rapid diagnosis and treatment strategy could aid in limiting a potential damage to the newborns. PMID:23050161

  11. Inpatient care of small and sick newborns in healthcare facilities

    PubMed Central

    Neogi, S B; Khanna, R; Chauhan, M; Sharma, J; Gupta, G; Srivastava, R; Prabhakar, P K; Khera, A; Kumar, R; Zodpey, S; Paul, V K

    2016-01-01

    Neonatal units in teaching and non-teaching hospitals both in public and private hospitals have been increasing in number in the country since the sixties. In 1994, a District Newborn Care Programme was introduced as a part of the Child Survival and Safe Motherhood Programme (CSSM) in 26 districts. Inpatient care of small and sick newborns in the public health system got a boost under National Rural Health Mission with the launch of the national programme on facility-based newborn care (FBNC). This has led to a nationwide creation of Newborn Care Corners (NBCC) at every point of child birth, newborn stabilization units (NBSUs) at First Referral Units (FRUs) and special newborn care units (SNCUs) at district hospitals. Guidelines and toolkits for standardized infrastructure, human resources and services at each level have been developed and a system of reporting data on FBNC created. Till March 2015, there were 565 SNCUs, 1904 NBSUs and 14 163 NBCCs operating in the country. There has been considerable progress in operationalizing SNCUs at the district hospitals; however establishing a network of SNCUs, NBSUs and NBCCs as a composite functional unit of newborn care continuum at the district level has lagged behind. NBSUs, the first point of referral for the sick newborn, have not received the desired attention and have remained a weak link in most districts. Other challenges include shortage of physicians, and hospital beds and absence of mechanisms for timely repair of equipment. With admission protocols not being adequately followed and a weak NBSU system, SNCUs are faced with the problem of admission overload and poor quality of care. Applying best practices of care at SNCUs, creating more NBSU linkages and strengthening NBCCs are important steps toward improving quality of FBNC. This can be further improved with regular monitoring and mentoring from experienced pediatricians, and nurses drawn from medical colleges and the private sector. In addition there is a

  12. Stage 2 of the Wellcome Trust UK-Irish bipolar affective disorder sibling-pair genome screen: evidence for linkage on chromosomes 6q16-q21, 4q12-q21, 9p21, 10p14-p12 and 18q22.

    PubMed

    Lambert, D; Middle, F; Hamshere, M L; Segurado, R; Raybould, R; Corvin, A; Green, E; O'Mahony, E; Nikolov, I; Mulcahy, T; Haque, S; Bort, S; Bennett, P; Norton, N; Owen, M J; Kirov, G; Lendon, C; Jones, L; Jones, I; Holmans, P; Gill, M; Craddock, N

    2005-09-01

    Bipolar affective disorder (BPAD) is a common psychiatric disorder with complex genetic aetiology. We have undertaken a genome-wide scan in one of the largest samples of bipolar affected sibling pairs (ASPs) using a two-stage approach combining sample splitting and marker grid tightening. In this second stage analysis, we have examined 17 regions that achieved a nominally significant maximum likelihood LOD score (MLS) threshold of 0.74 (or 1.18 for the X-chromosome) in stage one. The second stage has added 135 ASP families to bring the total stage 2 sample to 395 ASPs. In total, 494 microsatellite markers have been used to screen the human genome at a density of 10 cM in the first stage sample (260 ASPs) and 5 cM in the second stage. Under the broad diagnostic model, two markers gave LOD scores exceeding 3 with two-point analysis: D4S392 (LOD=3.30) and D10S197 (LOD=3.18). Multipoint analysis demonstrated suggestive evidence of linkage between BPAD and chromosomal regions 6q16-q21 (MLS=2.61) and 4q12-q21 (MLS=2.38). 6q16-q21 is of particular interest because our data, together with those from two recent genome scans, make this the best supported linkage region in BPAD. Further, our data show evidence of a gender effect at this locus with increased sharing predominantly within the male-male pairs. Our scan also provides support for linkage (MLS> or =1.5) at several other regions that have been implicated in meta-analyses of bipolar disorder and/or schizophrenia including 9p21, 10p14-p12 and 18q22.

  13. Dangerous and Expensive Screening and Treatment for Rare Childhood Diseases: The Case of Krabbe Disease

    ERIC Educational Resources Information Center

    Lantos, John D.

    2011-01-01

    Public policy surrounding newborn screening is in flux. New technology allows more screening for more diseases at lower cost. Traditional criteria for target diseases have been criticized by leading health policymakers. The example of newborn screening for Krabbe disease highlights many of the dilemmas associated with population-based screening…

  14. Metabolomic Research on Newborn Infants With Intrauterine Growth Restriction

    PubMed Central

    Liu, Jing; Chen, Xin-Xin; Li, Xiang-Wen; Fu, Wei; Zhang, Wan-Qiao

    2016-01-01

    Abstract To compare differences in metabolites between newborns with intrauterine growth restriction (IUGR) and those who are appropriate for gestational age (AGA) in order to understand the changes in metabolites of newborns with IUGR and to explore the possible metabolic mechanism of tissue and organ damages in patients with IUGR, with the ultimate goal of providing the basis for clinical intervention. A total of 60 newborns with IUGR and 60 AGA newborns who were hospitalized in the neonatal intensive care unit of our hospital between January 2011 and December 2015 and who underwent metabolic disease screening were enrolled in this study. The differences in 21 amino acids and 55 carnitines in peripheral blood, as well as changes in the ratios of free carnitine and acylcarnitine to total carnitine, were compared. Metabolites, particularly alanine, homocysteine, leucine, methionine, ornithine, serine, tyrosine, isovaleryl carnitine, and eicosenoyl carnitine, differed according to newborns’ birth weight (<3rd percentile, 3rd–5th percentiles, 5th–10th percentiles, and 10th–90th percentiles), with those with lower birth weight showing the greater difference (P < 0.05). Metabolites also differed by gestational age, and the differences observed were mainly as follows: preterm and full-term newborns showed differences in metabolites, mainly in alanine, proline, cerotoyl carnitine, and tetradecanedioyl carnitine (P < 0.05); preterm and full-term AGA newborns showed differences in metabolites, mainly in alanine, glutamine, homocysteine, pipecolic acid, proline, heptanoyl carnitine, and sebacoyl carnitine (P < 0.05); and preterm and full-term newborns with IUGR showed differences in metabolites, mainly in arginine, glutamic acid, homocysteine, histidine, leucine, isoleucine, ornithine, serine, threonine, tryptophan, valine, heptanoyl carnitine, decanoyl carnitine, linoleyl carnitine, methylmalonyl carnitine, glutarylcarnitine, sebacoyl carnitine

  15. A microsatellite linkage map of striped bass (Morone saxatilis)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Striped bass (Morone saxatilis) is of great importance for fisheries and aquaculture in the US. To construct a linkage map of striped bass, 480 microsatellite markers were screened for polymorphism among three parents of two half-sib mapping families that shared a common dam. A total of 289 markers ...

  16. Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil.

    PubMed

    Adorno, Elisângela Vitória; Couto, Fábio David; Moura Neto, José Pereira de; Menezes, Joelma Figueiredo; Rêgo, Marco; Reis, Mitermayer Galvão dos; Gonçalves, Marilda Souza

    2005-01-01

    Hemoglobinopathies are hereditary disorders of the hemoglobin molecule with a high prevalence worldwide. Brazil has a prevalence of 0.1 to 0.3% of newborns with sickle cell anemia and 20.0 to 25.0% of heterozygous alpha2 thalassemia among African Brazilians. In the present study, we investigated the presence of variant hemoglobins and alpha2(3.7 Kb) and alpha2 (4.2 Kb) thalassemia in newborns from Salvador, Bahia, Brazil. Samples of umbilical cord blood from a total of 590 newborns were analyzed, of which 57 (9.8%) were FAS; 36 (6.5%) FAC; one (0.2%) SF; and five (0.9%) FSC. One hundred fourteen (22.2%) newborns had alpha2(3.7 Kb) thalassemia, of whom 101 (19.7%) were heterozygous and 13 (2.5%) homozygous, showing statistical significance for hematological data between newborns with normal alpha genes and alpha2(3.7 Kb) thalassemia carriers. The alpha2(4.2 Kb) thalassemia was not found. Frequencies found in the present study confirm that hemoglobinopathies are a public health problem in Brazil, emphasizing the need for neonatal screening and genetic counseling programs.

  17. Leucine metabolism in human newborns

    SciTech Connect

    Denne, S.C.; Kalhan, S.C. )

    1987-12-01

    The present study was designed to (1) determine whether a relationship exists between newborn birth weight and leucine metabolism and (2) compare leucine and energy metabolism in a period of rapid growth and development (i.e., newborn) with a constant nongrowth period (i.e., adult). Leucine kinetics and energy expenditure were measured in the postabsorptive state in 12 normal full-term newborns in early neonatal life and in 11 normal adults using a primed constant L-(1-{sup 13}C)leucine infusion combined with respiratory calorimetry. A significant positive correlation between newborn birth weight and leucine flux was observed. These data suggest the following. (1) A relationship exists between newborn birth weight and protein metabolism, as reflected by the correlation between leucine flux when expressed as micromoles per kilogram per hour and birth weight. (2) The high rate of leucine flux measured in newborns probably reflects the rapid remodeling of protein that occurs in this period of development, even during fasting. (3) The similar values in newborns and adults of leucine kinetics and energy expenditure when normalized to metabolic body weight and the nearly equivalent allometric exponents relating body weight to leucine flux and energy expenditure support a close relationship between leucine and energy metabolism, at least at the extremes of human growth.

  18. Newborn Physiological Immaturity

    PubMed Central

    Fabrellas-Padrés, Núria; Delgado-Hito, Pilar; Hurtado-Pardos, Bárbara; Martí-Cavallé, Montserrat; Gironès-Nogué, Marta; García-Berman, Rosa-Maria; Alonso-Fernandez, Sergio

    2015-01-01

    Background: Most standardized nursing care plans for healthy neonates include multiple nursing diagnoses to reflect nurses' judgments on the infant's status; however scientific literature concerning this issue is scarce. Newborn physiological immaturity is a concept in the ATIC terminology (architecture, terminology, interface, information, nursing [infermeria], and knowledge [coneixement]) to represent the natural status of vulnerability of the healthy neonate. Purpose: To identify the essential attributes of the concept and provide its conceptual and operational definition, using the Wilsonian approach. Findings: The concept under analysis embeds a natural cluster of vulnerabilities and environmental interactions that enhance the evolving maturation process. Implications for Practice: The use of this diagnosis may simplify the process of charting the nursing care plans and reduce time needed for documentation while maintaining the integrity of the information. Implications for Research: Consistent development and use of nursing concepts is essential for knowledge building. Studies on the actual use of nursing diagnoses are needed to inform decision making. PMID:25822514

  19. Antifungal Immunological Defenses in Newborns

    PubMed Central

    Michalski, Christina; Kan, Bernard; Lavoie, Pascal M.

    2017-01-01

    Newborns are prone to fungal infections, largely due to Candida species. The immunological basis for this vulnerability is not yet fully understood. However, useful insights can be gained from the knowledge of the maturation of immune pathways during ontogeny, particularly when placed in context with how rare genetic mutations in humans predispose to fungal diseases. In this article, we review these most current data on immune functions in human newborns, highlighting pathways most relevant to the response to Candida. While discussing these data, we propose a framework of why deficiencies in these pathways make newborns particularly vulnerable to this opportunistic pathogen. PMID:28360910

  20. Apprenticeship - School Linkage Implementation Manual.

    ERIC Educational Resources Information Center

    Martin, Sharon T.; And Others

    Developed to assist interested sponsors in implementing apprenticeship-school linkage projects, this guide is intended to organize the collective experiences of those who have implemented the demonstration projects to highlight the day-to-day mechanics involved. Section 1 overviews apprenticeship-school linkage. In section 2 factors are described…

  1. Assortative Mating and Linkage Disequilibrium.

    PubMed

    Hedrick, Philip W

    2017-01-05

    Assortative mating has been suggested to result in an increase in heritability and additive genetic variance through an increase in linkage disequilibrium. The impact of assortative mating on linkage disequilibrium was explicitly examined for the two-locus model of Wright (1921) and two selective assortative mating models. For the Wright (1921) model, when the proportion of assortative mating was high, positive linkage disequilibrium was generated. However, when the proportion of assortative mating was similar to that found in some studies, the amount of linkage disequilibrium was quite low. In addition, the amount of linkage disequilibrium was independent of the level of recombination. For two selective assortative models, the amount of linkage disequilibrium was a function of the amount of recombination. For these models, the linkage disequilibrium generated was negative mainly because repulsion heterozygotes were favored over coupling heterozygotes. From these findings, the impact of assortative mating on linkage disequilibrium, and consequently heritability and additive genetic variance, appears to be small and model-specific.

  2. Assortative Mating and Linkage Disequilibrium

    PubMed Central

    Hedrick, Philip W.

    2016-01-01

    Assortative mating has been suggested to result in an increase in heritability and additive genetic variance through an increase in linkage disequilibrium. The impact of assortative mating on linkage disequilibrium was explicitly examined for the two-locus model of Wright (1921) and two selective assortative mating models. For the Wright (1921) model, when the proportion of assortative mating was high, positive linkage disequilibrium was generated. However, when the proportion of assortative mating was similar to that found in some studies, the amount of linkage disequilibrium was quite low. In addition, the amount of linkage disequilibrium was independent of the level of recombination. For two selective assortative models, the amount of linkage disequilibrium was a function of the amount of recombination. For these models, the linkage disequilibrium generated was negative mainly because repulsion heterozygotes were favored over coupling heterozygotes. From these findings, the impact of assortative mating on linkage disequilibrium, and consequently heritability and additive genetic variance, appears to be small and model-specific. PMID:27784755

  3. Conjunctivitis (Pink Eye) in Newborns

    MedlinePlus

    ... Get Smart: Know When Antibiotics Work Adenovirus Non-Polio Enterovirus Parent Portal Conjunctivitis (Pink Eye) in Newborns ... Get Smart: Know When Antibiotics Work Adenovirus Non-Polio Enterovirus Parent Portal Language: English Español (Spanish) File ...

  4. Medical Care and Your Newborn

    MedlinePlus

    ... Weight, length, and head circumference will be measured. Temperature will be taken, and your baby's breathing and ... an eye infection. Fever in a newborn (rectal temperature above 100.4°F or 38°C) should ...

  5. Learning, Play, and Your Newborn

    MedlinePlus

    ... their backs to reduce the risk of SIDS (sudden infant death syndrome) . Talk to your baby. Keep in mind ... For Kids For Parents MORE ON THIS TOPIC Sudden Infant Death Syndrome (SIDS) Movement, Coordination, and Your Newborn Your ...

  6. Learning, Play, and Your Newborn

    MedlinePlus

    ... the Classroom What Other Parents Are Reading Your Child's Development (Birth to 3 Years) Feeding Your 1- to ... Month-Old About the Play & Learn Center Your Child's Development: Newborn Your Child’s Development: 3-5 Days Contact ...

  7. USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE.

    PubMed

    Brenner, Steven E; Kingsmore, Stephen; Mooney, Sean D; Nussbaum, Robert; Puck, Jennifer

    2016-01-01

    Rare genetic disorders affect millions of individuals worldwide. Many of these disorders can take decades to correctly diagnose. Because of this, genome sequencing of newborns raises a substantial opportunity to identify genetic disorders before they present symptoms, and to identify patient risks at the start of life. Many of these disorders can take decades to correctly diagnose. Because of this, genome sequencing of newborns raises a substantial opportunity to identify genetic disorders before they present symptoms, and to identify patient risks at the start of life. This workshop will report on efforts to screen newborns using genetic sequencing technologies, and attendant biomedical informatics and computational biology approaches.

  8. Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.

    PubMed

    El-Gharbawy, Areeg H; Goldstein, Jennifer L; Millington, David S; Vaisnins, Amie E; Schlune, Andrea; Barshop, Bruce A; Schulze, Andreas; Koeberl, Dwight D; Young, Sarah P

    2013-06-01

    Guanidinoacetate methyltransferase (GAMT) deficiency is a good candidate disorder for newborn screening because early treatment appears to improve outcomes. We report elevation of guanidinoacetate in archived newborn dried blood spots for 3 cases (2 families) of GAMT deficiency compared with an unaffected carrier and controls. We also report a new case of a patient treated from birth with normal developmental outcome at the age of 42 months.

  9. Human Newborns Match Tongue Protrusion of Disembodied Human and Robotic Mouths

    ERIC Educational Resources Information Center

    Soussignan, Robert; Courtial, Alexis; Canet, Pierre; Danon-Apter, Gisele; Nadel, Jacqueline

    2011-01-01

    No evidence had been provided so far of newborns' capacity to give a matching response to 2D stimuli. We report evidence from 18 newborns who were presented with three types of stimuli on a 2D screen. The stimuli were video-recorded displays of tongue protrusion shown by: (a) a human face, (b) a human tongue from a disembodied mouth, and (c) an…

  10. Pain Management in Newborns

    PubMed Central

    Hall, Richard W.; Anand, Kanwaljeet J. S.

    2014-01-01

    Effective pain management is a desirable standard of care for preterm and term newborns and may potentially improve their clinical and neurodevelopmental outcomes. Neonatal pain should be assessed routinely using context-specific, validated and objective pain methods, despite the limitations of currently available tools. Reducing invasive procedures, and using pharmacological, behavioral or environmental measures can be used to manage neonatal pain. Non-pharmacologic approaches include kangaroo care, facilitated tucking, non-nutritive sucking, sucrose and other sweeteners, massage and acupuncture therapy. They are used for procedures causing acute, transient, or mild pain, or as adjunctive therapy for moderate or severe pain. Local and topical anesthetics can reduce the acute pain caused by skin-breaking or mucosa-injuring procedures. Opioids form the mainstay for treatment of severe pain; morphine and fentanyl are the most commonly used drugs, although other opioids are also available. Non-opioid drugs include various sedatives and anesthetic agents, mostly used as adjunctive therapy in ventilated neonates. Acetaminophen, ibuprofen and other drugs are used for neonates, although their efficacy and safety remains unproven. Approaches for implementing an effective pain management program in the Neonatal ICU are summarized, together with practical protocols for procedural, postoperative, and mechanical ventilation-associated neonatal pain and stress. PMID:25459780

  11. Thrombosis in newborn infants.

    PubMed

    Bacciedoni, Viviana; Attie, Myriam; Donato, Hugo

    2016-04-01

    The incidence of thrombosis is higher among newborn infants than in any other stage of pediatric development. This fact is the consequence of labile characteristics of the neonatal hemostatic system, in addition to exposure to multiple risk factors and the wide use of vascular catheters. Venous thromboses, which mainly affect the limbs, the right atrium and renal veins, are more frequently seen than arterial thromboses. A stroke may be caused by the occlusion of the arterial flow entering the brain or by occlusion of its venous drainage system. Purpura fulminans is a very severe condition that should be treated as a medical emergency, and is secondary to severe protein C deficiency or, less frequently, protein S or antithrombin deficiency. Most thrombotic events should be managed with antithrombotic therapy, which is done with unfractionated and/or low molecular weight heparins. Purpura fulminans requires protein C replacement and/or fresh frozen plasma infusion. Thrombolytic therapy is done using tissue plasminogen activator and should only be used for life-, or limb-, or organ-threatening thrombosis.

  12. Hypoglycaemia of the newborn: a review.

    PubMed Central

    Williams, A. F.

    1997-01-01

    It is almost a century since hypoglycaemia (a reduction in the glucose concentration of circulating blood) was first described in children, and over 50 years since the condition was first recognized in infants. Nevertheless, controversy still surrounds the definition, significance, and management of neonatal hypoglycaemia. Technological developments such as bedside glucose monitoring have, paradoxically, exacerbated rather than eased the situation. This article reviews the literature on hypoglycaemia of the newborn, and covers the following: historical aspects; glucose homeostasis and metabolic adaptation at birth; the effect of low blood glucose levels on the central nervous system; the definition of hypoglycaemia; screening; prevention; treatment; research needs; and concludes with recommendations for prevention and management. PMID:9277014

  13. Faster sequential genetic linkage computations.

    PubMed Central

    Cottingham, R W; Idury, R M; Schäffer, A A

    1993-01-01

    Linkage analysis using maximum-likelihood estimation is a powerful tool for locating genes. As available data sets have grown, the computation required for analysis has grown exponentially and become a significant impediment. Others have previously shown that parallel computation is applicable to linkage analysis and can yield order-of-magnitude improvements in speed. In this paper, we demonstrate that algorithmic modifications can also yield order-of-magnitude improvements, and sometimes much more. Using the software package LINKAGE, we describe a variety of algorithmic improvements that we have implemented, demonstrating both how these techniques are applied and their power. Experiments show that these improvements speed up the programs by an order of magnitude, on problems of moderate and large size. All improvements were made only in the combinatorial part of the code, without restoring to parallel computers. These improvements synthesize biological principles with computer science techniques, to effectively restructure the time-consuming computations in genetic linkage analysis. PMID:8317490

  14. [Recommendations for the care of the healthy normal newborn at delivery and during the first postnatal hours].

    PubMed

    Luna, M Sánchez; Alonso, C R Pallás; Mussons, F Botet; Urcelay, I Echániz; Conde, J R Castro; Narbona, E

    2009-10-01

    Standardised normal newborn care at delivery and during the first hours of life is one of the objectives of the Spanish National Society of Neonatology. The object of this review is to apply the best evidence possible to the procedures of the care of the newborn from delivery and during the first moments after delivery; as well as standards and routines in care to improve quality and the safety of the newborn. A PubMed (MeSH) review using the key words: term newborn; prophylaxis of ophthalmia neonatorum; haemorrhagic disease of the newborn; neonatal jaundice; neonatal screening and hospital discharge. Concepts of regular care of the healthy newborn at delivery; normal practices in the delivery room; prophylaxis of ophthalmia neonatorum; prevention of vitamin K deficiency bleeding; care of the umbilical cord; newborn screening and hospital discharge are reviewed. The standard of care of the newborn at delivery and during the first hours of life have been updated; recommendations based on evidence and on experts of the standard committee of the spanish society of neonatology are done.

  15. The ethics of newborn resuscitation.

    PubMed

    Mercurio, Mark R

    2009-12-01

    It is widely believed in neonatology and obstetrics that there are situations in which it is inappropriate to attempt newborn resuscitation, and other times when newborn resuscitation is obligatory despite parental refusal. In each case, an ethical justification for the decision needs to be identified. This essay is intended to provide guidance in deciding when resuscitation should be attempted, and in identifying ethical considerations that should be taken into account. It specifically addresses the issue of extreme prematurity, including an analysis of current recommendations, the data, relevant rights of patient and parents, and a discussion of the relative merits of withholding resuscitation vs providing resuscitation and possibly withdrawing intensive care later. In addition to extreme prematurity, the considerations presented are also relevant to a wider spectrum of newborn problems, including Trisomy 13, Trisomy 18, and severe congenital anomalies.

  16. Group B streptococcal septicemia of the newborn

    MedlinePlus

    ... septicemia is a severe bacterial infection that affects newborn infants . Causes Septicemia is an infection in the bloodstream ... in which it may be passed to a newborn baby: The infant can become infected as the baby passes through ...

  17. Can Newborns Discriminate between Their Own Cry and the Cry of Another Newborn Infant?

    ERIC Educational Resources Information Center

    Dondi, Marco; Simion, Francesca; Caltran, Giovanna

    1999-01-01

    Two experiments tested whether newborns could discriminate their own and another newborn's cry. Results indicated that awake newborns expressed facial distress more frequently and longer to another newborn's cry than to their own. Sucking decreased significantly between pretest phase and first minute of another infant's cry. Asleep infants'…

  18. Craniocerebral gunshot injury in newborn

    PubMed Central

    Dabdoub, CB; Serra, SM; da Cunha, AH; Silveira, EN; Lopez, A; Azevedo-Filho, H

    2012-01-01

    Head wounds caused by firearms in newborns are an under-studied phenomenon in Latin America due to either the low frequency of such events or inadequate documentation. Nonetheless, a progressive increase is noted, with different frequencies reported for different geographic areas. We present the case of a 28-day-old newborn who suffered traumatic brain injury from a gunshot wound stemming from urban violence. This is one of the youngest patients reported with this type of head trauma in the literature. PMID:24960794

  19. Linkage analysis of a large pedigree with hereditary sideroblastic anaemia.

    PubMed

    Noble, J S; Taylor, G R; Losowsky, M S; Hall, R; Turner, G; Mueller, R F; Stewart, A D

    1995-05-01

    A large pedigree showing a history of pyridoxine responsive X linked sideroblastic anaemia was screened with several polymorphic DNA markers from the X chromosome. Linkage analysis between each marker and disease status was performed, giving a maximum two point lod score of 3.64 at zero recombination with the microsatellite marker PGK1P1 at Xq11.2-12. Close linkage to PGK at Xq13.3, one of the candidate regions for X linked sideroblastic anaemia, was excluded. Linkage to DNA markers distal to PGK and at Xp21 was also excluded. Multipoint linkage analysis was performed with markers located between Xq11.2-21. The maximum map specific lod score obtained was 3.56 at PGK1P1 (Xq11.2-12). Linkage remained significant over the interval 20 cM proximal to PGK1P1 and 5 cM distal to PGK1P1, with definite exclusion around the PGK locus. The most likely location of the gene involved in sideroblastic anaemia in this pedigree is therefore within the pericentromeric region of the X chromosome. This region includes the erythroid 5-aminolaevulinate synthetase gene of the haem synthesis pathway, which is a candidate gene for X linked sideroblastic anaemia located at Xp11.21.

  20. Linkages in thermal copolymers of lysine

    NASA Technical Reports Server (NTRS)

    Fox, S. W.; Suzuki, F.

    1976-01-01

    The thermal copolymerization of lysine with other alpha-amino acids has been studied further. The identity of the second amino acid influences various properties of the polymer obtained, including the proportion of alpha and epsilon linkages of lysine. A review of linkages in proteinoids indicates alpha and beta linkages for aspartic acid, alpha and gamma linkages for glutamic acid, alpha and epsilon linkages for lysine, and alpha linkages for other amino acids. Thermal proteinoids are thus more complex in types of linkage than are proteins

  1. Linkages in thermal copolymers of lysine

    NASA Technical Reports Server (NTRS)

    Fox, S. W.; Suzuki, F.

    1975-01-01

    The thermal copolymerization of lysine with other alpha-amino acids was studied. The identity of the second amino acid influences various properties of the polymer obtained, including the proportion of alpha and epsilon linkages of lysine. A review of linkages in proteinoids indicates alpha and beta linkages for aspartic acid, alpha and gamma linkages for glutamic acid, alpha and epsilon linkages for lysine, and alpha linkages for other amino acids. Thermal proteinoids are thus more complex in types of linkage than are proteins.

  2. Newborns' Head Orientation toward Sounds Within Hemifields.

    ERIC Educational Resources Information Center

    Fenwick, Kimberley; And Others

    This experiment examined the accuracy with which newborn infants orient their heads toward a sound positioned off midline within hemifields. The study also evaluated newborns' ability to update the angle of their head turn to match a change in localization of an ongoing sound. Alert newborns were held in a supine position and presented a sound at…

  3. 42 CFR 435.117 - Newborn children.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 42 Public Health 4 2010-10-01 2010-10-01 false Newborn children. 435.117 Section 435.117 Public..., Children Under 8, and Newborn Children § 435.117 Newborn children. (a) The agency must provide Medicaid eligibility to a child born to a woman who has applied for, has been determined eligible and is...

  4. 42 CFR 435.117 - Newborn children.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 42 Public Health 4 2012-10-01 2012-10-01 false Newborn children. 435.117 Section 435.117 Public..., Children Under 8, and Newborn Children § 435.117 Newborn children. (a) The agency must provide Medicaid eligibility to a child born to a woman who has applied for, has been determined eligible and is...

  5. 42 CFR 435.117 - Newborn children.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 42 Public Health 4 2013-10-01 2013-10-01 false Newborn children. 435.117 Section 435.117 Public..., AND AMERICAN SAMOA Mandatory Coverage Mandatory Coverage of Pregnant Women, Children Under 19, and Newborn Children § 435.117 Newborn children. (a) The agency must provide Medicaid eligibility to a...

  6. 42 CFR 435.117 - Newborn children.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 42 Public Health 4 2014-10-01 2014-10-01 false Newborn children. 435.117 Section 435.117 Public..., AND AMERICAN SAMOA Mandatory Coverage Mandatory Coverage of Pregnant Women, Children Under 19, and Newborn Children § 435.117 Newborn children. (a) The agency must provide Medicaid eligibility to a...

  7. 42 CFR 435.117 - Newborn children.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 42 Public Health 4 2011-10-01 2011-10-01 false Newborn children. 435.117 Section 435.117 Public..., Children Under 8, and Newborn Children § 435.117 Newborn children. (a) The agency must provide Medicaid eligibility to a child born to a woman who has applied for, has been determined eligible and is...

  8. Comparison of Auditory Brainstem Response in HIV-1 exposed and unexposed newborns and their correlation with the maternal viral load and CD4 cell counts

    PubMed Central

    FASUNLA, Ayotunde James; OGUNBOSI, Babatunde Oluwatosin; ODAIBO, Georgina Njideka; NWAORGU, Onyekwere George Benjamin; TAIWO, Babafemi; OLALEYE, David Olufemi; OSINUSI, Kikelomo; MURPHY, Robert Leo; ADEWOLE, Isaac Folorunso; AKINYINKA, Olusegun Olusina

    2014-01-01

    Objective The effects of maternal HIV infection and antiretroviral therapy on hearing of HIV-exposed newborns in sub-Saharan Africa have not been investigated. We determined the prevalence of sensorineural hearing loss among HIV-exposed newborns and the association between the hearing threshold and maternal & newborn parameters. Design A cohort audiometric study of newborns between October 2012 and April 2013. Settings Secondary and tertiary hospital based study. Participants Consecutive 126 HIV-exposed and 121 HIV-unexposed newborns. Intervention Hearing screening of the newborns were done with Auditory Brainstem Response and compared with maternal HAART, CD4 cell counts, RNA viral loads and newborn CD4 percent. Main outcome measure Hearing threshold levels of both groups were measured and analyzed. Results 11.1% of HIV-exposed and 6.6% of unexposed newborns had hearing impairment (p=0.2214). 6.4% of HIV-exposed and 2.5% HIV-unexposed newborns had hearing threshold >20dBHL (p = 0.1578). There was no significant association between the hearing thresholds of HIV-exposed newborns and maternal CD4 cell counts (p = 0.059) but there was with maternal viral load (p=0.034). There was significant difference between the hearing thresholds of HIV-exposed newborns with CD4 % of ≤25 and >25. This study showed significant difference in the hearing of the 119 HAART-exposed newborns and 7 unexposed newborns (p=0.002; RR=0.13 [0.05–0.32]). Conclusion There was a trend towards more hearing loss in HIV-exposed newborns. However, hearing thresholds increase with increasing mothers’ viral load. This background information supports the need for further studies on the role of in-utero exposure to HIV and HAART in newborn hearing loss. PMID:25313584

  9. Screening for and treatments of congenital immunodeficiency diseases.

    PubMed

    Verbsky, James; Routes, John

    2014-12-01

    Although newborn screening (NBS) for inborn errors of metabolism has been successfully utilized in the US for decades, only recently has this screening program expanded to include disorders of immunity. Severe combined immunodeficiency (SCID) became the first disorder of immunity to be screened on a population wide basis in 2008. While NBS for SCID has been successful, the implementation of population-based screening programs is not without controversy, and there remain barriers to the nationwide implementation of this test. In addition, as the program has progressed we have learned of new challenges in the management of newborns that fail this screen.

  10. Neonatal Screening for Severe Combined Immunodeficiency (SCID)

    PubMed Central

    Puck, Jennifer M.

    2012-01-01

    Purpose of review Population-based newborn screening for severe combined immunodeficiency (SCID) and related disorders has been instituted in five states, with several more planning to add this testing to their newborn screening panels. This review summarizes the rationale, development, and implementation of SCID screening programs to date and highlights current and future challenges. Recent findings Early results of T-cell receptor excision circle (TREC) testing newborns in pilot states indicate that this addition to the newborn screening panel can be successfully integrated into state public health programs. The TREC test has clinical validity and TRECs, as predicted, are an excellent biomarker of poor T-cell lymphocyte production in the thymus or increased lymphocyte loss resulting in T-cell lymphopenia. A variety of cases with typical SCID genotypes and other conditions have been detected in a timely manner and referred for appropriate early treatment. Summary Early detection of primary immunodeficiency is recognized as important for avoiding infectious complications that compromise outcomes. Routine screening of all newborns with the TREC test, implemented as part of an integrated public health program, can achieve pre-symptomatic diagnosis of SCID and other disorders with T-cell lymphopenia, allowing prompt and effective treatment and leading to a better understanding of the spectrum of these disorders and how to manage them. PMID:22001765

  11. Kluyvera meningitis in a newborn.

    PubMed

    Rosso, Marisa; Rojas, Pilar; Garcia, Elisa; Marquez, Javier; Losada, Antonio; Muñoz, Miguel

    2007-11-01

    Kluyvera is described infrequently in association with clinically significant infections in humans. It can produce a wide range of clinically significant manifestations. We describe a newborn with ventriculoperitoneal shunt, who was successfully treated for Kluyvera meningitis. We believe that this is the first case of Kluyvera central nervous system infection reported in a child.

  12. Newborns' Mooney-Face Perception

    ERIC Educational Resources Information Center

    Leo, Irene; Simion, Francesca

    2009-01-01

    The aim of this study is to investigate whether newborns detect a face on the basis of a Gestalt representation based on first-order relational information (i.e., the basic arrangement of face features) by using Mooney stimuli. The incomplete 2-tone Mooney stimuli were used because they preclude focusing both on the local features (i.e., the fine…

  13. Medical Care and Your Newborn

    MedlinePlus

    ... Lessons? Visit KidsHealth in the Classroom What Other Parents Are Reading Your Child's Development (Birth to 3 Years) Feeding Your 1- to 3-Month-Old Feeding Your 4- to 7-Month-Old Feeding Your 8- to 12-Month-Old Feeding Your 1- to 2-Year-Old ... > For Parents > Medical Care and Your Newborn Print A A ...

  14. Orthopaedic conditions in the newborn.

    PubMed

    Sankar, Wudbhav N; Weiss, Jennifer; Skaggs, David L

    2009-02-01

    The occasional consultation on a neonate can be unfamiliar territory for many orthopaedic surgeons. Just as children are not little adults, newborns are not just little children; rather, they have a unique physiology that affects the presentation of their orthopaedic concerns. Careful physical examination with appropriate understanding of neonatal development is essential to making the proper diagnosis. A flail extremity in the newborn is most commonly attributed to fracture or brachial plexus palsy; however, infection must also be considered and ruled out to prevent long-term morbidity. Metatarsus adductus is the most common foot abnormality, but clubfoot, calcaneovalgus deformity, and congenital vertical talus may also be encountered. Joint contractures that spontaneously improve are normal in the newborn, but it is important to identify and institute proper treatment for early developmental dysplasia of the hip, congenital knee dislocation, and torticollis. Clavicular pseudarthrosis and periosteal reactions may be discovered on radiographic examination. A basic understanding of the relevant conditions will help the orthopaedist with the initial diagnosis and management of orthopaedic issues in the newborn.

  15. Hemolytic disease of the newborn

    MedlinePlus

    ... is a blood disorder in a fetus or newborn infant. In some infants, it can be life threatening. Normally, red blood cells last for about 120 days in the body. In this disorder, red blood cells in the blood are destroyed earlier than normal.

  16. Newborn Infants Orient to Sounds.

    ERIC Educational Resources Information Center

    Muir, Darwin; Field, Jeffrey

    1979-01-01

    In two experiments, the majority of 21 newborn infants who were maintained in an alert state consistently turned their heads toward a continuous sound source presented 90 degrees from midline. For most infants, this orientation response was rather slow, taking median latencies of 2.5 seconds to begin and 5.5 seconds to end. (JMB)

  17. Protecting Your Newborn. Instructor's Guide.

    ERIC Educational Resources Information Center

    Bhatia, Esha

    This guide is intended to help instructors educate new and expectant parents about safely transporting their newborn babies. The guide accompanies a 27-minute video, developed by the National Traffic Safety Administration, which introduces some of the key safety issues that new parents should consider during their baby's first 6 months of life.…

  18. Linkage analysis without defined pedigrees.

    PubMed

    Day-Williams, Aaron G; Blangero, John; Dyer, Thomas D; Lange, Kenneth; Sobel, Eric M

    2011-07-01

    The need to collect accurate and complete pedigree information has been a drawback of family-based linkage and association studies. Even in case-control studies, investigators should be aware of, and condition on, familial relationships. In single nucleotide polymorphism (SNP) genome scans, relatedness can be directly inferred from the genetic data rather than determined through interviews. Various methods of estimating relatedness have previously been implemented, most notably in PLINK. We present new fast and accurate algorithms for estimating global and local kinship coefficients from dense SNP genotypes. These algorithms require only a single pass through the SNP genotype data. We also show that these estimates can be used to cluster individuals into pedigrees. With these estimates in hand, quantitative trait locus linkage analysis proceeds via traditional variance components methods without any prior relationship information. We demonstrate the success of our algorithms on simulated and real data sets. Our procedures make linkage analysis as easy as a typical genomewide association study.

  19. The clinical application of array CGH for the detection of chromosomal defects in 20,126 unselected newborns

    PubMed Central

    2013-01-01

    Background Array comparative genomic hybridization (CGH) is a powerful tool for detecting unbalanced chromosomal alterations. To validate the usefulness of array CGH in newborn screening, we examined 20,126 unselected infants. In addition, the number of newborns analyzed with array CGH is the largest one ever reported. Findings A total of 20,126 unselected newborns were investigated with array CGH and cytogenetic analyses. The analyses revealed 87 cases with chromosome abnormalities. Of these, 53 cases had significant chromosome aneuploidies, including trisomy 13, trisomy 21, 47,XXY or 45,X, and the other 34 cases presented partial chromosomal deletions or duplications. Conclusions In this study, we show that array CGH is an appropriate tool for the screening of chromosomal abnormalities in newborns, especially for the infants without distinct clinical features. PMID:23725218

  20. Education: Linkages with Economic Development.

    ERIC Educational Resources Information Center

    Clouser, Rodney L.

    A review of the literature of research in education and economics revealed very limited linkages between education (human capital) and economic development. Much of the economic development research has been carried out in developing nations and is case-study based. Many case studies concentrate on identifying factors that influence location or…

  1. [THE COMPARATIVE CHARACTERISTIC OF KAOLIN-ACTIVATED THROMBOELASTOGRAPHY IN HEALTHY NEWBORNS AND NEWBORNS WITH HEART AILMENTS].

    PubMed

    Leonov, N P; Karas'kov, A M; Litasova, E E; Strunin, O V; Karmadonova, N A; Akopov, G D; Vishegorodtseva, L I

    2016-02-01

    The study was carried out to diferentiate reference values for kaolin-activated thromboelastography in newborns with congenital heart disease. The study included two groups ofpatients. The first one consisted of 62 newborns with congenital heart disease and the second one consisted of 35 healthy newborns. The results of kaolin-activated thromboelastography implemented in groups are evaluated as condition of normal coagulation. The valuable diferences of homeostasis system in healthy newborns and newborns with congenital heart disease (without severe concomitant pathology) are not established. They have similar indicators of kaolin-activated thromboelastography. The derived results can be applied as standards in full-term newborns with congenital heart disease.

  2. PHENYLKETONURIA, DETECTION IN THE NEWBORN INFANT AS A ROUTINE HOSPITAL PROCEDURE.

    ERIC Educational Resources Information Center

    GUTHRIE, ROBERT; WHITNEY, STEWART

    A FIELD TRIAL OF AN INHIBITION ASSAY METHOD FOR SCREENING FOR PHENYLKETONURIA (PKU) TESTED MORE THAN 400,000 NEWBORN INFANTS PRIOR TO DISCHARGE FROM THE HOSPTIAL. IN ALL, 39 CASES WERE FOUND, A HIGHER INCIDENCE THAN HAD PREVIOUSLY BEEN EXPECTED. THE PRACTICALITY OF THE INHIBITION ASSAY METHOD WAS ALSO DEMONSTRATED. THE REPORT DETAILS THE TRIAL'S…

  3. 76 FR 76740 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-12-08

    ... p.m. January 27, 2012, 8:30 a.m. to 3:30 p.m. Place: Park Hyatt Hotel, 1201 24th Street NW... of newborn screening activities, technologies, policies, guidelines and programs for effectively...-8). Agenda: The meeting will include: (1) An orientation for all new Committee members...

  4. 78 FR 16514 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-03-15

    ... Health and Human Services regarding the development of newborn screening activities, technologies...- 8). Agenda: The meeting will include: (1) A policy paper report on the impact of recommendations related to sickle cell trait testing; (2) a presentation on the Affordable Care Act and the impact...

  5. [Congenital ranula in a newborn].

    PubMed

    Bernhard, M K; Hückel, D; Hamala, D

    2007-05-01

    Ranulas are cystic lesions in the floor of the mouth. They are either retention cysts of the excretory duct of the sublingual gland or pseudocysts formed by excretory duct rupture followed by extravasation and accumulation of mucus in the surrounding tissue. We report the case of a premature newborn with a congenital ranula in the floor of mouth. The ranula caused no discomfort or complications, so that immediate intervention was not necessary. The cyst resolved completely by the age of 4 months. Complications in newborns especially include airway obstruction and feeding difficulties. Surgical treatment options are needle aspiration, excision of the ranula, marsupialization, cryosurgery, and--in addition to excision of the cyst--removal of the ipsilateral sublingual gland. Sclerotherapy has shown good results as well. As many congenital cysts resolve or rupture spontaneously, they should be observed for potential resolution for several months in uncomplicated cases.

  6. Newborn healthcare in urban India

    PubMed Central

    Sharma, J; Osrin, D; Patil, B; Neogi, S B; Chauhan, M; Khanna, R; Kumar, R; Paul, V K; Zodpey, S

    2016-01-01

    The rapid population growth in urban India has outpaced the municipal capacity to build essential infrastructures that make life in cities safe and healthy. Local and national governments alike are grappling with the challenges of urbanization with thousands migrating from villages to cities. Thus, urbanization in India has been accompanied by a concentration of poverty and urban public healthcare has emerged as one of the most pressing priorities facing our country. Newborn mortality rates in urban settings are lower than rural areas, early neonatal deaths account for greater proportion than late neonatal deaths. The available evidence suggests that socio-economic inequalities and poor environment pose major challenges for newborn health. Moreover, fragmented and weak public health system, multiplicity of actors and limited capacity of public health planning further constrain the delivery of quality and affordable health care service. Though healthcare is concentrated in urban areas, delay in deciding to seek health care, reaching a source of it and receiving appropriate care affects the health outcomes disproportionately. However, a few city initiatives and innovations piloted in different states and cities have brought forth the evidences of effectiveness of different strategies. Recently launched National Urban Health Mission (NUHM) provides an opportunity for strategic thinking and actions to improve newborn health outcomes in India. There is also an opportunity for coalescence of activities around National Health Mission (NHM) and Reproductive, Maternal, Newborn and Child Health+Adolescent (RMNCH+A) strategy to develop feasible and workable models in different urban settings. Concomitant operational research needs to be carried out so that the obstacles, approaches and response to the program can be understood. PMID:27924107

  7. Newborn healthcare in urban India.

    PubMed

    Sharma, J; Osrin, D; Patil, B; Neogi, S B; Chauhan, M; Khanna, R; Kumar, R; Paul, V K; Zodpey, S

    2016-12-01

    The rapid population growth in urban India has outpaced the municipal capacity to build essential infrastructures that make life in cities safe and healthy. Local and national governments alike are grappling with the challenges of urbanization with thousands migrating from villages to cities. Thus, urbanization in India has been accompanied by a concentration of poverty and urban public healthcare has emerged as one of the most pressing priorities facing our country. Newborn mortality rates in urban settings are lower than rural areas, early neonatal deaths account for greater proportion than late neonatal deaths. The available evidence suggests that socio-economic inequalities and poor environment pose major challenges for newborn health. Moreover, fragmented and weak public health system, multiplicity of actors and limited capacity of public health planning further constrain the delivery of quality and affordable health care service. Though healthcare is concentrated in urban areas, delay in deciding to seek health care, reaching a source of it and receiving appropriate care affects the health outcomes disproportionately. However, a few city initiatives and innovations piloted in different states and cities have brought forth the evidences of effectiveness of different strategies. Recently launched National Urban Health Mission (NUHM) provides an opportunity for strategic thinking and actions to improve newborn health outcomes in India. There is also an opportunity for coalescence of activities around National Health Mission (NHM) and Reproductive, Maternal, Newborn and Child Health+Adolescent (RMNCH+A) strategy to develop feasible and workable models in different urban settings. Concomitant operational research needs to be carried out so that the obstacles, approaches and response to the program can be understood.

  8. Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci.

    PubMed

    Svenningsson, Anna; Söderhäll, Cilla; Persson, Sofia; Lundberg, Fredrik; Luthman, Holger; Chung, Eddie; Gardiner, Mark; Kockum, Ingrid; Nordenskjöld, Agneta

    2012-02-01

    Infantile hypertrophic pyloric stenosis (IHPS) is a common cause of upper gastrointestinal obstruction during infancy. A multifactorial background of the disease is well established. Multiple susceptibility loci including the neuronal nitric oxide synthase (NOS1) gene have previously been linked to IHPS, but contradictory results of linkage studies in different materials indicate genetic heterogeneity. To identify IHPS susceptibility loci, we conducted a genome-wide linkage analysis in 37 Swedish families. In regions where the Swedish material showed most evidence in favor of linkage, 31 additional British IHPS families were analyzed. Evidence in favor of significant linkage was observed in the Swedish material to two loci on chromosome 2q24 (non-parametric linkage (NPL) =3.77) and 7p21 (NPL=4.55). In addition, evidence of suggestive linkage was found to two loci on chromosome 6p21 (NPL=2.97) and 12q24 (NPL=2.63). Extending the material with British samples did not enhance the level of significance. Regions with linkage harbor interesting candidate genes, such as glucagon-like peptide-2 (GLP-2 encoded by the glucagon gene GCG), NOS1, motilin (MLN) and neuropeptide Y (NPY). The coding exons for GLP-2, and NPY were screened for mutations with negative results. In conclusion, we could confirm suggestive linkage to the region harboring the NOS1 gene and detected additional novel susceptibility loci for IHPS.

  9. [Ethical reflections and recommendations for making clinical decisions in the care of the healthy newborn].

    PubMed

    Sánchez Escartín, M C; López de Heredia Goya, J; Aguayo Maldonado, M J; Blanco Bravo, D; Molina Morales, V

    2012-12-01

    The care of healthy newborn during their stay in health centres is not usually a problem and there are few conflicts in the relationship with the family. Conflicts may arise because the parents do not accept the care or care routines that health professionals provide. They believe that the newborn does not require testing or prophylactic measures, such as administration of vitamin K, or puncture to obtain a blood sample for newborn screening. This is because the information they have is not adequate, or because they reject some measures as they are invasive and that from their point of view, do not correspond to the care of a healthy newborn. This document seeks to reconcile the values of family and participation in the care of their child, the rights of the newborn, and the values of health professionals. It is based on adequate information, a good clinical relationship, and discussion in case of discrepancies that can lead to changes in some procedures that are not essential in the care of the newborn.

  10. Ultrasonography of hydronephrosis in the newborn: a practical review

    PubMed Central

    2016-01-01

    Widespread use of fetal ultrasonography is accompanied by more frequent detection of antenatal hydronephrosis. Therefore, sonographic evaluation of neonates with a history of antenatal hydronephrosis is becoming more widespread. As an initial postnatal non-invasive imaging modality, ultrasonography is used to screen for persistence of hydronephrosis, determine the level and severity of obstruction, and contribute to appropriate diagnosis and treatment. This review aims to provide a practical overview of the sonographic evaluation of neonatal hydronephrosis and to describe the sonographic findings of conditions associated with hydronephrosis in the newborn. PMID:27156562

  11. Transcutaneous bilirubinometry in the newborn infant: state of the art.

    PubMed

    Hegyi, T

    1986-01-01

    Hyperbilirubinemia in the newborn infant continues to challenge physicians. Clinical evaluation and treatment have evolved well-established principles over the past decade. This review examines neonatal bilirubin metabolism and focuses on a recently developed clinical diagnostic tool, the transcutaneous bilirubinometer. In spite of some limitations, the transcutaneous bilirubinometer can be best applied as a screening tool to identify healthy full-term infants who require serum bilirubin determination. With proper application, this device can eliminate most invasive diagnostic testing. Optimal use of the instrument requires the relationship between the serum bilirubin concentration and the transcutaneous bilirubinometer index to be determined for each device, institution, and population.

  12. Prevention of congenital dislocation of the hip in the newborn.

    PubMed

    Miranda, L; Palomo, J M; Monzonis, J; Marti, V

    1988-01-01

    Routine examination and early treatment of any instability in the hips of newborns has recently been called into question after a period of universal agreement. The hips of 49,937 neonates were prospectively studied by a general hip screening. Every unstable hip--449 in 317 children--was immediately treated with a Von Rosen splint for a 3-month-period. Overall, satisfactory reduction of the incidence of established congenital dislocation of the hip (CDH) was achieved. Risk factors leading to unstable hips (sex, first birth, and breech birth) and the development of CDH (time of stabilization) were considered.

  13. Efficient Record Linkage Algorithms Using Complete Linkage Clustering

    PubMed Central

    Mamun, Abdullah-Al; Aseltine, Robert; Rajasekaran, Sanguthevar

    2016-01-01

    Data from different agencies share data of the same individuals. Linking these datasets to identify all the records belonging to the same individuals is a crucial and challenging problem, especially given the large volumes of data. A large number of available algorithms for record linkage are prone to either time inefficiency or low-accuracy in finding matches and non-matches among the records. In this paper we propose efficient as well as reliable sequential and parallel algorithms for the record linkage problem employing hierarchical clustering methods. We employ complete linkage hierarchical clustering algorithms to address this problem. In addition to hierarchical clustering, we also use two other techniques: elimination of duplicate records and blocking. Our algorithms use sorting as a sub-routine to identify identical copies of records. We have tested our algorithms on datasets with millions of synthetic records. Experimental results show that our algorithms achieve nearly 100% accuracy. Parallel implementations achieve almost linear speedups. Time complexities of these algorithms do not exceed those of previous best-known algorithms. Our proposed algorithms outperform previous best-known algorithms in terms of accuracy consuming reasonable run times. PMID:27124604

  14. Efficient Record Linkage Algorithms Using Complete Linkage Clustering.

    PubMed

    Mamun, Abdullah-Al; Aseltine, Robert; Rajasekaran, Sanguthevar

    2016-01-01

    Data from different agencies share data of the same individuals. Linking these datasets to identify all the records belonging to the same individuals is a crucial and challenging problem, especially given the large volumes of data. A large number of available algorithms for record linkage are prone to either time inefficiency or low-accuracy in finding matches and non-matches among the records. In this paper we propose efficient as well as reliable sequential and parallel algorithms for the record linkage problem employing hierarchical clustering methods. We employ complete linkage hierarchical clustering algorithms to address this problem. In addition to hierarchical clustering, we also use two other techniques: elimination of duplicate records and blocking. Our algorithms use sorting as a sub-routine to identify identical copies of records. We have tested our algorithms on datasets with millions of synthetic records. Experimental results show that our algorithms achieve nearly 100% accuracy. Parallel implementations achieve almost linear speedups. Time complexities of these algorithms do not exceed those of previous best-known algorithms. Our proposed algorithms outperform previous best-known algorithms in terms of accuracy consuming reasonable run times.

  15. Screening for lysosomal storage disorders--a clinical perspective.

    PubMed

    Fletcher, Janice M

    2006-01-01

    The availability of therapies for lysosomal storage diseases (LSDs) and clear documentation from animal studies that optimal therapy depends on early diagnosis have set the scene for newborn screening for LSDs. The combined incidence of this group of conditions is approximately 1 in 7000, well within the feasible range for newborn screening programmes. The availability of multiplex technology has facilitated the technical aspects of initial screening. The scientific challenge is to predict disease severity early enough to influence choice of therapy. LSD screening is discussed from the point of view of the scientists, the families affected by these conditions, the community and clinicians.

  16. Hospital stay for healthy term newborn infants.

    PubMed

    Benitz, William E

    2015-05-01

    The hospital stay of the mother and her healthy term newborn infant should be long enough to allow identification of problems and to ensure that the mother is sufficiently recovered and prepared to care for herself and her newborn at home. The length of stay should be based on the unique characteristics of each mother-infant dyad, including the health of the mother, the health and stability of the newborn, the ability and confidence of the mother to care for herself and her newborn, the adequacy of support systems at home, and access to appropriate follow-up care in a medical home. Input from the mother and her obstetrical care provider should be considered before a decision to discharge a newborn is made, and all efforts should be made to keep a mother and her newborn together to ensure simultaneous discharge.

  17. State of the World's Newborns: A Report from Saving Newborn Lives.

    ERIC Educational Resources Information Center

    Costello, Anthony; Francis, Victoria; Byrne, Ali; Puddephatt, Claire

    There has been little change in newborn mortality in the past 20 years, even through proven, cost-effective solutions exist to save many of these young lives. This report reviews the most recent data on the newborn, revealing the alarming poor health and quality of health care for mothers and newborns in virtually all impoverished countries. The…

  18. TORCH Screen

    MedlinePlus

    ... Current concepts of infections of the fetus and newborn infant. In: Wilson CB, Nizet V, Maldonado YA, Remington JS, Klein JO, eds. Remington and Klein's infectious Diseases of the Fetus and Newborn . 8th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap ...

  19. Transient hyperechogenicity of the renal medullary pyramids: incidence in the healthy term newborn.

    PubMed

    Khoory, B J; Andreis, I A; Vino, L; Fanos, V

    1999-01-01

    A screening program was performed on 1881 clinically healthy term newborns, aimed at detecting eventual pathological conditions not diagnosed during pregnancy. Seventy-three cases of transient hyperechogenicity of the renal medullary pyramids were observed, involving one or both kidneys with either sectorial or diffuse pattern. None of the neonates examined had evidence of renal dysfunction and follow-up ultrasound scans demonstrated complete resolution of the sonographic picture. Medullary hyperechogenicity is not rare in healthy term newborns (3.9%); it presents rapid resolution and should be considered in differential diagnosis of pathological conditions.

  20. Isolated penile torsion in newborns

    PubMed Central

    Eroglu, Egemen; Gundogdu, Gokhan

    2015-01-01

    Introduction: We reported on the incidence of isolated penile torsion among our healthy children and our approach to this anomaly. Methods: Between 2011 and 2014, newborn babies with penile torsion were classified according to the angle of torsion. Surgical correction (penile degloving and reattachment for moderate cases and dorsal dartos flap technique in case of resistance) after 6 months was advised to the babies with rotations more than 45°. Results: Among 1000 newborn babies, 200 isolated penile torsions were found, and among these, 43 had torsions more than 45°, and 4 of these had angles greater than 90°. The mean angle of the rotations was found 30.45° (median: 20°). In total, 8 children with 60° torsions were previously circumcised. Surgery was performed on 19 patients, with a mean patient age of 12 ± 2 months. Of these 19, 13 babies were corrected with degloving and reattachment. This technique was not enough on the remaining 6 patients; therefore, derotational dorsal dartos flap was added to correct the torsion. After a mean of 15.6 ± 9.8 months, residual penile rotation, less than 15°, was found only in 2 children. Conclusion: The incidence of isolated penile torsion is 20% in newborns. However, rotation more than 45° angles are seen in 4.3% of male babies. Correction is not necessary in mild degrees, and penile degloving with reattachment is enough in most cases. If the initial correction is insufficient, dorsal dartos flap rotation is easy and effective. Prior circumcision neither disturbs the operative procedure nor affects the outcomes. PMID:26600889

  1. Privacy preserving interactive record linkage (PPIRL)

    PubMed Central

    Kum, Hye-Chung; Krishnamurthy, Ashok; Machanavajjhala, Ashwin; Reiter, Michael K; Ahalt, Stanley

    2014-01-01

    Objective Record linkage to integrate uncoordinated databases is critical in biomedical research using Big Data. Balancing privacy protection against the need for high quality record linkage requires a human–machine hybrid system to safely manage uncertainty in the ever changing streams of chaotic Big Data. Methods In the computer science literature, private record linkage is the most published area. It investigates how to apply a known linkage function safely when linking two tables. However, in practice, the linkage function is rarely known. Thus, there are many data linkage centers whose main role is to be the trusted third party to determine the linkage function manually and link data for research via a master population list for a designated region. Recently, a more flexible computerized third-party linkage platform, Secure Decoupled Linkage (SDLink), has been proposed based on: (1) decoupling data via encryption, (2) obfuscation via chaffing (adding fake data) and universe manipulation; and (3) minimum information disclosure via recoding. Results We synthesize this literature to formalize a new framework for privacy preserving interactive record linkage (PPIRL) with tractable privacy and utility properties and then analyze the literature using this framework. Conclusions Human-based third-party linkage centers for privacy preserving record linkage are the accepted norm internationally. We find that a computer-based third-party platform that can precisely control the information disclosed at the micro level and allow frequent human interaction during the linkage process, is an effective human–machine hybrid system that significantly improves on the linkage center model both in terms of privacy and utility. PMID:24201028

  2. Newborn piglet model for campylobacteriosis.

    PubMed Central

    Babakhani, F K; Bradley, G A; Joens, L A

    1993-01-01

    An in vivo model system for human campylobacteriosis has been developed in which colostrum-deprived newborn piglets are orally challenged with an invasive strain of Campylobacter jejuni. Piglets developed clinical symptoms and histopathological lesions similar to those observed in humans infected with C. jejuni. Gross lesion examination at autopsy revealed the presence of edema, hyperemia, and mucus. Histopathologic examinations by light and transmission electron microscopy demonstrated damage to surface epithelial cells with the presence of intracellular bacteria, mainly in the large intestine. Similar lesions were not demonstrated in control piglets. Images PMID:8335377

  3. Flooring choices for newborn ICUs.

    PubMed

    White, R D

    2007-12-01

    Floors are a major element of newborn intensive care unit (NICU) construction. They provide visual cues, sound control, and with certain materials, some degree of physical comfort for workers. Flooring materials may entail a significant cost for installation and upkeep and can have substantial ecological impact, both in the choice of the flooring itself, as well as the substances used to clean it. In this article the important aspects to consider for each factor are explored and recommendations are offered for appropriate choices in various NICU areas.

  4. Newborn infants perceive abstract numbers.

    PubMed

    Izard, Véronique; Sann, Coralie; Spelke, Elizabeth S; Streri, Arlette

    2009-06-23

    Although infants and animals respond to the approximate number of elements in visual, auditory, and tactile arrays, only human children and adults have been shown to possess abstract numerical representations that apply to entities of all kinds (e.g., 7 samurai, seas, or sins). Do abstract numerical concepts depend on language or culture, or do they form a part of humans' innate, core knowledge? Here we show that newborn infants spontaneously associate stationary, visual-spatial arrays of 4-18 objects with auditory sequences of events on the basis of number. Their performance provides evidence for abstract numerical representations at the start of postnatal experience.

  5. Newborn Screening Saves Lives Reauthorization Act of 2013

    THOMAS, 113th Congress

    Sen. Hagan, Kay [D-NC

    2013-08-01

    02/07/2014 Referred to the Subcommittee on Health. (All Actions) Notes: For further action, see H.R.1281, which became Public Law 113-240 on 12/18/2014. Tracker: This bill has the status Passed SenateHere are the steps for Status of Legislation:

  6. Newborn Screening and the Era of Medical Genomics

    PubMed Central

    Francescatto, Ludmila; Katsanis, Nicholas

    2015-01-01

    Across the span of the last 75+ years, technological and conceptual advances in genetics have found rapid implementation at the beginning of human life. From karyotype testing, to molecular cytogenetics, to gene panel testing and now whole exome and whole genome sequencing, each iterative expansion of our capability to acquire genetic data on the next generation has been implemented quickly in the clinical setting. In tandem, our continuously expanding ability to acquire large volumes of genetic data has generated its own challenges in terms of interpretation, clinical utility of the information, and concerns over privacy and discrimination; for the first time, we are faced with the possibility of having complete access to our genetic data from birth, if not shortly after conception. Here we discuss the evolution of the field towards this new reality and we consider the potentially far-reaching consequences and, at present, an unclear path towards developing best practices for implementation. PMID:26499764

  7. Caring for a critically ill Amish newborn.

    PubMed

    Gibson, Elizabeth A

    2008-10-01

    This article describes a neonatal nurse's personal experience in working with a critically ill newborn and his Amish family in a newborn intensive care unit in Montana. The description includes a cultural experience with an Amish family with application to Madeleine Leininger's theory of culture care diversity and universality.

  8. Liver Abscess: Increasing Occurrence in Premature Newborns

    PubMed Central

    Bosnalı, Oktav; Moralıoğlu, Serdar; Pektaş, Osman

    2013-01-01

    Neonatal liver abscess is a very rare condition associated with high morbidity and mortality rates. There seems to be an increasing trend of this rare condition amongst the newborns admitted to neonatal intensive care units. We report a case of liver abscess in a premature newborn and briefly review the literature and discuss its management. PMID:26023443

  9. Group B Strep Infection in Newborns

    MedlinePlus

    ... Core surveillance (ABCs) CDC Streptococcus Laboratory Sepsis Group B Strep Infection in Newborns Language: English Español (Spanish) ... the difference between early- and late-onset group B strep diseases in newborns… How it Spreads and ...

  10. 42 CFR 436.124 - Newborn children.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 42 Public Health 4 2012-10-01 2012-10-01 false Newborn children. 436.124 Section 436.124 Public... the Categorically Needy § 436.124 Newborn children. (a) The agency must provide Medicaid eligibility to a child born to a woman who has applied for, has been determined eligible and is...

  11. 42 CFR 436.124 - Newborn children.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 42 Public Health 4 2010-10-01 2010-10-01 false Newborn children. 436.124 Section 436.124 Public... the Categorically Needy § 436.124 Newborn children. (a) The agency must provide Medicaid eligibility to a child born to a woman who has applied for, has been determined eligible and is...

  12. 42 CFR 436.124 - Newborn children.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 42 Public Health 4 2013-10-01 2013-10-01 false Newborn children. 436.124 Section 436.124 Public... the Categorically Needy § 436.124 Newborn children. (a) The agency must provide Medicaid eligibility to a child born to a woman who has applied for, has been determined eligible and is...

  13. 42 CFR 436.124 - Newborn children.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 42 Public Health 4 2014-10-01 2014-10-01 false Newborn children. 436.124 Section 436.124 Public... the Categorically Needy § 436.124 Newborn children. (a) The agency must provide Medicaid eligibility to a child born to a woman who has applied for, has been determined eligible and is...

  14. 42 CFR 436.124 - Newborn children.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 42 Public Health 4 2011-10-01 2011-10-01 false Newborn children. 436.124 Section 436.124 Public... the Categorically Needy § 436.124 Newborn children. (a) The agency must provide Medicaid eligibility to a child born to a woman who has applied for, has been determined eligible and is...

  15. [Premature newborn: a case presentation].

    PubMed

    Pastor Rodríguez, Jesús David; Pastor Bravo, María Del Mar; López García, Visitación; Cotes Teruel, María Isabel; Mellado, Jesús Eulogio; Cárceles, José Jara

    2010-01-01

    A case is presented of a premature newborn of 27 weeks gestation and weighing 420 grams who was delivered as a result of a maternal pre-eclampsia and retarded intra-uterine growth. During the 125 days of hospitalisation, an individual care plan based on the Virginia Henderson model was devised and applied to both the child and her parents using NANDA diagnostics, interventions according to the NIC classification, and the expected results according to the NOC classification. The Marjory Gordon functional patterns were used for the initial assessment. By applying the pre-term newborn (PTNB) plan, all their needs were provided and were modified throughout the hospital stay, with new needs that were added to the established ones. These required a continuous assessment with the subsequent adapting of the care plan. Likewise, the care required by the parents varied from the initial grief due to the possible loss of their child to learning the alarm signs and the home care that their child would need. The child was finally discharged weighing 2900 grams and with normal neurological and psychomotor development, although with a lower weight appropriate to her age. Currently, at 2 years old, the child has a normal neurological and psychomotor development, but with weight and size lower than the P(3) percentile. She requires speech therapy treatment due to paralysis of the right vocal cord.

  16. [Recent advances in newborn MRI].

    PubMed

    Morel, B; Hornoy, P; Husson, B; Bloch, I; Adamsbaum, C

    2014-07-01

    The accurate morphological exploration of the brain is a major challenge in neonatology that advances in magnetic resonance imaging (MRI) can now provide. MRI is the gold standard if an hypoxic ischemic pathology is suspected in a full term neonate. In prematures, the specific role of MRI remains to be defined, secondary to US in any case. We present a state of the art of hardware and software technical developments in MRI. The increase in magnetic field strength (3 tesla) and the emergence of new MRI sequences provide access to new information. They both have positive and negative consequences on the daily clinical data acquisition use. The semiology of brain imaging in full term newborns and prematures is more extensive and complex and thereby more difficult to interpret. The segmentation of different brain structures in the newborn, even very premature, is now available. It is now possible to dissociate the cortex and basal ganglia from the cerebral white matter, to calculate the volume of anatomical structures, which improves the morphometric quantification and the understanding of the normal and abnormal brain development. MRI is a powerful tool to analyze the neonatal brain. The relevance of the diagnostic contribution requires an adaptation of the parameters of the sequences to acquire and of the image processing methods.

  17. Arrhythmias in newborn thoroughbred foals.

    PubMed

    Yamamoto, K; Yasuda, J; Too, K

    1992-05-01

    Foetal electrocardiograms (ECG) were obtained from 39 of 50 Thoroughbred foaling mares close to delivery. The 50 newborn foals were studied electrocardiographically during their adaptive period, immediately after birth. In 48 foals there were paroxysmal arrhythmias or mixed arrhythmias. The most common arrhythmias were sinus arrhythmias including wandering pacemaker (32/50) and atrial premature contraction (30/50). The others observed were atrial fibrillation (15/50), ventricular premature contraction (10/50), partial atrioventricular block (7/50), ventricular tachycardia (4/50), atrial tachycardia (3/50) and idioventricular rhythm (1/50). The duration of the arrhythmias was approximately 5 min, and in all cases the arrhythmia disappeared within 15 min of birth. From foetal ECG recordings, no indication of the likelihood of neonatal arrhythmias was detected. With the exception of 2 cases, all foals have continued to grow and develop normally. These arrhythmias are considered normal physiological processes in newborn Thoroughbred foals during the adaptive period to extra-uterine life. High vagal tone and hypoxaemia at birth are probably the main contributing factors.

  18. SSR and EST-SSR-based genetic linkage map of cassava (Manihot esculenta Crantz).

    PubMed

    Sraphet, Supajit; Boonchanawiwat, Athipong; Thanyasiriwat, Thanwanit; Boonseng, Opas; Tabata, Satoshi; Sasamoto, Shigemi; Shirasawa, Kenta; Isobe, Sachiko; Lightfoot, David A; Tangphatsornruang, Sithichoke; Triwitayakorn, Kanokporn

    2011-04-01

    Simple sequence repeat (SSR) markers provide a powerful tool for genetic linkage map construction that can be applied for identification of quantitative trait loci (QTL). In this study, a total of 640 new SSR markers were developed from an enriched genomic DNA library of the cassava variety 'Huay Bong 60' and 1,500 novel expressed sequence tag-simple sequence repeat (EST-SSR) loci were developed from the Genbank database. To construct a genetic linkage map of cassava, a 100 F(1) line mapping population was developed from the cross Huay Bong 60 by 'Hanatee'. Polymorphism screening between the parental lines revealed that 199 SSRs and 168 EST-SSRs were identified as novel polymorphic markers. Combining with previously developed SSRs, we report a linkage map consisted of 510 markers encompassing 1,420.3 cM, distributed on 23 linkage groups with a mean distance between markers of 4.54 cM. Comparison analysis of the SSR order on the cassava linkage map and the cassava genome sequences allowed us to locate 284 scaffolds on the genetic map. Although the number of linkage groups reported here revealed that this F(1) genetic linkage map is not yet a saturated map, it encompassed around 88% of the cassava genome indicating that the map was almost complete. Therefore, sufficient markers now exist to encompass most of the genomes and efficiently map traits in cassava.

  19. Radial localization of odors by human newborns.

    PubMed

    Rieser, J; Yonas, A; Wikner, K

    1976-09-01

    To study sensitivity to radial location of an odor source, 20 human newborns, ranging from 16 to 130 hours of age, were presented with a small amount of ammonium hydroxide. The odor source was placed near the nose slightly to the left or right of midline, with its position randomized over repeated trails. Direction of headturn with respect to the odor location and diffuse motor activity were scored from the videotape recordings of the newborns' behavior. It was found that as a group, the newborns turned away from the odor source more frequently than they turned toward it. The tendency to turn away from the odor was stronger in infants who displayed less motor activity after the response. Newborns also exhibited a right bias in the direction of the head movements. It is concluded that a spatially appropriate avoidance response is present in the neonate and that the newborn is innately sensitive to the radial location of an odor.

  20. The roots of bilingualism in newborns.

    PubMed

    Byers-Heinlein, Krista; Burns, Tracey C; Werker, Janet F

    2010-03-01

    The first steps toward bilingual language acquisition have already begun at birth. When tested on their preference for English versus Tagalog, newborns whose mothers spoke only English during pregnancy showed a robust preference for English. In contrast, newborns whose mothers spoke both English and Tagalog regularly during pregnancy showed equal preference for both languages. A group of newborns whose mothers had spoken both Chinese and English showed an intermediate pattern of preference for Tagalog over English. Preference for two languages does not suggest confusion between them, however. Study 2 showed that both English monolingual newborns and Tagalog-English bilingual newborns could discriminate English from Tagalog. The same perceptual and learning mechanisms that support acquisition in a monolingual environment thus also naturally support bilingual acquisition.

  1. Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease.

    PubMed Central

    Siddique, T; Roper, H; Pericak-Vance, M A; Shaw, J; Warner, K L; Hung, W Y; Phillips, K L; Lunt, P; Cumming, W J; Roses, A D

    1989-01-01

    Facioscapulohumeral disease is probably a heterogeneous disorder. We have ascertained and sampled two multigeneration families with the neurogenic form of this disorder, considered to be a type of spinal muscular atrophy (FSHSMA). The two families have 36 affected members. Linkage studies with 10 expressed and seven DNA restriction fragment length polymorphism (RFLP) markers failed to show significant linkage (Zmax greater than or equal to 3.00). However, two areas of probable linkage were defined on chromosomes 1p and 4q with the markers MNS (Zmax = 1.47 at theta max = 0.10) and PGM1 (Zmax = 0.94 at theta max = 0.001) respectively. We are using additional RFLPs from these and other areas of the human genome to screen these families for linkage to FSHSMA. PMID:2570155

  2. Confirmatory linkage study of hypochondroplasia

    SciTech Connect

    Hecht, J.T.; Herrera, C.; Greenhaw, G.A.

    1994-09-01

    Hypochondroplasia is an autosomal dominant form of disproportionate short stature disorder that has clinical and radiographic findings similar to but milder than achondroplasia. Based on these findings it has been suggested that achondroplasia and hypochondroplasia are allelic conditions. We and others have mapped the achondroplasia locus to telomeric region of chromosome 4. Tested linkage to 4p markers in 6 hypochondroplasia families and a maximum LOD score of 1.7 at {theta} = 0 was found for IUDA. Here we report the results of a linkage study in 4 multigenerational families with hypochondroplasia using 7 short tandem repeat markers (D4S127, D4S412, D4S43, D4S115, IUDA, D4S227, D4S169) from the short arm of chromosome 4. These families have been well characterized and show the typical clinical and radiographic features of hypochondroplasia. One family was Afro-American, one Hispanic and two were Caucasian. We found a maximum multipoint LOD score of 2.9 at D4S115. The results of this study provide confirmatory evidence that achondroplasia and hypochondroplasia map to the same chromosomal location and suggests that they are indeed allelic conditions.

  3. Gripper deploying and inverting linkage

    DOEpatents

    Minichan, R.L.; Killian, M.A.

    1993-03-02

    An end effector deploying and inverting linkage. The linkage comprises an air cylinder mounted in a frame or tube, a sliding bracket next to the air cylinder, a stopping bracket depending from the frame and three, pivotally-attached links that are attached to the end effector and to each other in such a way as to be capable of inverting the end effector and translating it laterally. The first of the three links is a straight element that is moved up and down by the shaft of the air cylinder. The second link is attached at one end to the stopping bracket and to the side of the end effector at the other end. The first link is attached near the middle of the second, sharply angled link so that, as the shaft of the air cylinder moves up and down, the second link rotates about an axis perpendicular to the frame and inverts and translates the end effector. The rotation of the second link is stopped at both ends when the link engages stops on the stopping bracket. The third link, slightly angled, is attached to the sliding bracket at one end and to the end of the end effector at the other. The third helps to control the end effector in its motion.

  4. Gripper deploying and inverting linkage

    DOEpatents

    Minichan, Richard L.; Killian, Mark A.

    1993-01-01

    An end effector deploying and inverting linkage. The linkage comprises an air cylinder mounted in a frame or tube, a sliding bracket next to the air cylinder, a stopping bracket depending from the frame and three, pivotally-attached links that are attached to the end effector and to each other in such a way as to be capable of inverting the end effector and translating it laterally. The first of the three links is a straight element that is moved up and down by the shaft of the air cylinder. The second link is attached at one end to the stopping bracket and to the side of the end effector at the other end. The first link is attached near the middle of the second, sharply angled link so that, as the shaft of the air cylinder moves up and down, the second link rotates about an axis perpendicular to the frame and inverts and translates the end effector. The rotation of the second link is stopped at both ends when the link engages stops on the stopping bracket. The third link, slightly angled, is attached to the sliding bracket at one end and to the end of the end effector at the other. The third helps to control the end effector in its motion.

  5. [Usefullness of the Kramer's index in the diagnosis of hyperbilirubinemia of the newborn].

    PubMed

    Acosta-Torres, Sara M; Torres-Espina, Marco T; Colina-Araujo, José A; Colina-Chourio, José A

    2012-06-01

    The objective of the present study was to correlate seric values of bilirubin with the Kramer's index in a group of newborns with neonatal jaundice, from three different ethnic groups. This was a prospective, randomized, observational, descriptive-analytical, longitudinal, comparative and controlled study of 50 newborns with neonatal jaundice, without complications. They were divided into three groups: A (Control), n = 25, of Caucasian descent; B, n = 15, of local indigenous descent (Wayúu) and C, n = 10, of Afro-American descent. Each newborn was screened at the start of the study for their Kramer's dermic areas and simultaneously, a venous blood sample from the arm was taken for bilirubin quantification. They were compared through a correlation-regression analysis. Values at the beginning of the study were: serum bilirubin 12.02 +/- 3.41 mg/dL, and 62.8% of neonates were at Kramer's level 3. There were no differences among the ethnic groups studied and the correlation bilirubin/Kramer's index was r= 0.93 (p < 0.005). At the third day, both bilirubin and Kramer's indexes started to decrease. There were no ethnic differences. In conclusion, the Kramer's method offers multiple advantages to evaluate a jaundiced newborn; it is a safe, non-invasive method with no cost. Besides, it is of great help in the prevention of the kernicterus. It is recommended to implement the use of the Kramer method in all the newborns units in our Hospitals, preferably in those lacking transcutaneous bilirubinometers.

  6. An introduction to recombination and linkage analysis

    SciTech Connect

    Mcpeek, M.S.

    1996-12-31

    With a garden as his laboratory, Mendel was able to discern basic probabilistic laws of heredity. Although it first appeared as a baffling exception to one of Mendel`s principles, the phenomenon of variable linkage between characters was soon recognized to be a powerful tool in the process of chromosome mapping and location of genes of interest. In this introduction, we first describe Mendel`s work and the subsequent discovery of linkage. Next we describe the apparent cause of variable linkage, namely recombination, and we introduce linkage analysis. 33 refs., 1 fig., 2 tabs.

  7. Producing Newborn Synchronous Mammalian Cells

    NASA Technical Reports Server (NTRS)

    Gonda, Steve R.; Helmstetter, Charles E.; Thornton, Maureen

    2008-01-01

    A method and bioreactor for the continuous production of synchronous (same age) population of mammalian cells have been invented. The invention involves the attachment and growth of cells on an adhesive-coated porous membrane immersed in a perfused liquid culture medium in a microgravity analog bioreactor. When cells attach to the surface divide, newborn cells are released into the flowing culture medium. The released cells, consisting of a uniform population of synchronous cells are then collected from the effluent culture medium. This invention could be of interest to researchers investigating the effects of the geneotoxic effects of the space environment (microgravity, radiation, chemicals, gases) and to pharmaceutical and biotechnology companies involved in research on aging and cancer, and in new drug development and testing.

  8. Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis

    PubMed Central

    Lefterova, Martina I.; Shen, Peidong; Odegaard, Justin I.; Fung, Eula; Chiang, Tsoyu; Peng, Gang; Davis, Ronald W.; Wang, Wenyi; Kharrazi, Martin; Schrijver, Iris; Scharfe, Curt

    2017-01-01

    Newborn screening for cystic fibrosis enables early detection and management of this debilitating genetic disease. Implementing comprehensive CFTR analysis using Sanger sequencing as a component of confirmatory testing of all screen-positive newborns has remained impractical due to relatively lengthy turnaround times and high cost. Here, we describe CFseq, a highly sensitive, specific, rapid (<3 days), and cost-effective assay for comprehensive CFTR gene analysis from dried blood spots, the common newborn screening specimen. The unique design of CFseq integrates optimized dried blood spot sample processing, a novel multiplex amplification method from as little as 1 ng of genomic DNA, and multiplex next-generation sequencing of 96 samples in a single run to detect all relevant CFTR mutation types. Sequence data analysis utilizes publicly available software supplemented by an expert-curated compendium of >2000 CFTR variants. Validation studies across 190 dried blood spots demonstrated 100% sensitivity and a positive predictive value of 100% for single-nucleotide variants and insertions and deletions and complete concordance across the polymorphic poly-TG and consecutive poly-T tracts. Additionally, we accurately detected both a known exon 2,3 deletion and a previously undetected exon 22,23 deletion. CFseq is thus able to replace all existing CFTR molecular assays with a single robust, definitive assay at significant cost and time savings and could be adapted to high-throughput screening of other inherited conditions. PMID:26847993

  9. Molecular diagnostics and newborns at risk for genital herpes simplex virus.

    PubMed

    Chua, Caroline; Arnolds, Marin; Niklas, Victoria

    2015-05-01

    Herpes simplex virus (HSV) infection in the newborn carries a high mortality rate and can result in lifelong neurologic impairment. The severity of HSV infection in the newborn has always dictated conservative management when prodromal symptoms or active genital lesions (or those suggestive of genital herpes) are present during labor and delivery. The risk of intrapartum infection, however, is related to the presence or absence of maternal immunity (neutralizing antibody) to HSV. The most significant risk of transmission is in first-episode primary infections with active lesions at delivery. Recent recommendations from the American Academy of Pediatrics Committees on Infectious Diseases and the Fetus and Newborn use rapid serologic and virologic screening in the management of asymptomatic infants born to mothers with active genital herpes. The revised guidelines highlight infants at greatest risk for HSV disease but do not apply to asymptomatic infants born to mothers with a history of HSV but no genital lesions at delivery. The current guidelines also stipulate that maternal serologic screening and molecular assays for HSV in newborn blood and cerebrospinal fluid must be available and reported in a timely fashion.

  10. Preventing herpes simplex virus in the newborn.

    PubMed

    Pinninti, Swetha G; Kimberlin, David W

    2014-12-01

    Genital herpes simplex virus (HSV) infections are very common worldwide. Approximately 22% of pregnant women are infected genitally with HSV, and most of them are unaware of this. The most devastating consequence of maternal genital herpes is HSV disease in the newborn. Although neonatal HSV infections remain uncommon, due to the significant morbidity and mortality associated with the infection, HSV infection in the newborn is often considered in the differential diagnosis of ill neonates. This review summarizes the epidemiology and management of neonatal HSV infections and discusses strategies to prevent HSV infection in the newborn.

  11. The long quest for neonatal screening for severe combined immunodeficiency.

    PubMed

    Buckley, Rebecca H

    2012-03-01

    Early recognition of severe combined immunodeficiency (SCID) is a pediatric emergency because a diagnosis before live vaccines or nonirradiated blood products are given and before development of infections permits lifesaving unfractionated HLA-identical or T cell-depleted haploidentical hematopoietic stem cell transplantation, enzyme replacement therapy, or gene therapy. The need for newborn screening for this condition has been recognized for the past 15 years. However, implementation of screening required development of an assay for T-cell lymphopenia that could be performed on dried bloodspots routinely collected from newborn infants for the past 48 years. This was accomplished 6 years ago, and there have already been 7 successful pilot studies. A recommendation to add SCID to the routine newborn-screening panel was approved by the Secretary's Advisory Committee on Heritable Disorders of Newborns and Children in 2010 and was soon after approved by the Secretary of Health and Human Services. It is important for allergists, immunologists, and other health care providers to take an active role in promoting newborn screening for SCID and other T-lymphocyte abnormalities in their states. Even more important will be their roles in establishing accurate diagnoses for infants with positive screen results and in ensuring that they are given the best possible treatment.

  12. Risk factors and prevalence of newborn hearing loss in a private health care system of Porto Velho, Northern Brazil

    PubMed Central

    de Oliveira, Juliana Santos; Rodrigues, Liliane Barbosa; Aurélio, Fernanda Soares; da Silva, Virgínia Braz

    2013-01-01

    OBJECTIVE: To determine the prevalence of hearing loss and to analyze the results of newborn hearing screening and audiological diagnosis in private health care systems. METHODS Cross-sectional and retrospective study in a database of newborn hearing screening performed by a private clinic in neonates born in private hospitals of Porto Velho, Rondônia, Northern Brazil. The screening results, the risk for hearing loss, the risk indicators for hearing loss and the diagnosis were descriptively analyzed. Newborns cared in rooming in with their mothers were compared to those admitted to the Intensive Care Unit regarding risk factors for hearing loss. RESULTS: Among 1,146 (100%) enrolled newborns, 1,064 (92.8%) passed and 82 (7.2%) failed the hearing screening. Among all screened neonates, 1,063 (92.8%) were cared in rooming and 83 (7.2%) needed intensive care; 986 (86.0%) were considered at low risk and 160 (14.0%) at high risk for hearing problems. Of the 160 patients identified as having high risk for hearing loss, 83 (37.7%) were admitted to an hospitalized in the Intensive Care Unit, 76 (34.5%) used ototoxic drugs and 38 (17.2%) had a family history of hearing loss in childhood. Hearing loss was diagnosed in two patients (0.2% of the screened sample). CONCLUSIONS: The prevalence of hearing loss in newborns from private hospitals was two cases per 1,000 evaluated patients. The use of ototoxic drugs, admission to Intensive Care Unit and family history of hearing loss were the most common risk factors for hearing loss in the studied population. PMID:24142311

  13. Postnatal hypoglycaemia and gluconeogenesis in the newborn rat. Delayed onset of gluconeogenesis in prematurely delivered newborns.

    PubMed Central

    Fernández, E; Valcarce, C; Cuezva, J M; Medina, J M

    1983-01-01

    The concentrations of glucose and lactate in the blood and of liver glycogen, and the phosphoenolpyruvate carboxykinase activity in liver and kidney of term and preterm newborn rats, were studied during the first 6 h post partum. Rates of lactate turnover and gluconeogenesis in vivo from [U-14C]lactate at 3 h and 6 h post partum were also quantified. The development of the prolonged postnatal hypoglycaemia observed after birth in the premature newborn rat is associated with lower rates of glucose production through glycogenolysis and gluconeogenesis; liver glycogenolysis was the main contributing factor to the glucose available during the neonatal period studied in both groups. Delayed induction of liver phosphoenolpyruvate carboxykinase activity was observed in premature newborn rats. Renal phosphoenolpyruvate carboxykinase activity increased 72% from birth in preterm newborns, but only a 25% increase was found in term newborns during the same experimental period. The gluconeogenesis in vivo from [U-14C]lactate paralleled the appearance of cytosolic phosphoenolpyruvate carboxykinase activity in the liver of both groups of newborns. Blood lactate concentrations remained higher in preterm than in term newborns. The postnatal utilization of lactate via the gluconeogenic pathway in either group of newborns was always less than 20% of the total lactate used. The results presented are discussed in relation to the development of postnatal hypoglycaemia and gluconeogenesis in the premature newborn rat. PMID:6615479

  14. Examining the Linkage Between FRAMES and GMS

    SciTech Connect

    Whelan, Gene; Castleton, Karl J.

    2006-02-13

    Because GMS provides so many features, of which some are also addressed by FRAMES, it could represent a platform to link to FRAMES, or FRAMES could represent a platform to link to GMS. The focus of this summary is to examine the strengths and weaknesses of the potential linkage direction and provide recommendations for the linkage between FRAMES and GMS.

  15. Vitamin K deficiency bleeding of the newborn

    MedlinePlus

    Vitamin K deficiency bleeding of the newborn (VKDB) is a bleeding disorder in babies. It most often develops shortly ... Control and Prevention. Notes from the field: late vitamin K deficiency bleeding in infants whose parents declined vitamin K ...

  16. Changes in the newborn at birth

    MedlinePlus

    ... within about 10 seconds after delivery. This breath sounds like a gasp, as the newborn's central nervous system reacts to the sudden change in temperature and environment. Once the baby takes the first ...

  17. The interfacility transport of critically ill newborns.

    PubMed

    Whyte, Hilary Ea; Jefferies, Ann L

    2015-01-01

    The practice of paediatric/neonatal interfacility transport continues to expand. Transport teams have evolved into mobile intensive care units capable of delivering state-of-the-art critical care during paediatric and neonatal transport. While outcomes are best for high-risk infants born in a tertiary care setting, high-risk mothers often cannot be safely transferred. Their newborns may then have to be transported to a higher level of care following birth. The present statement reviews issues relating to transport of the critically ill newborn population, including personnel, team competencies, skills, equipment, systems and processes. Six recommendations for improving interfacility transport of critically ill newborns are highlighted, emphasizing the importance of regionalized care for newborns.

  18. Crying in Newborn and Young Infants.

    ERIC Educational Resources Information Center

    Michelsson, Katarina

    1988-01-01

    Discusses the reasons that newborns and young infants cry, the communicative effect and perception of crying, crying in sick and healthy infants, the sound spectograph, and crying for the use of clinical diagnostics. (RJC)

  19. A model for linkage analysis with apomixis.

    PubMed

    Hou, Wei; Lin, Shen; Li, Yao; Pang, Xiaoming; Zeng, Yanru; Wu, Rongling

    2011-09-01

    Apomixis, or asexual reproduction through seeds, occurs in over 400 species of angiosperms. Although apomixis can favorably perpetuate desired genotypes through successive seed generation, it may also bring about some difficulty for linkage analysis and quantitative trait locus mapping. In this article, we explore the issue of how apomixis affects the precision and power of linkage analysis with molecular markers. We derive a statistical model for estimating the linkage between different markers when some progeny are derived from apomixis. The model was constructed within the maximum likelihood framework and implemented with the EM algorithm. A series of procedures are formulated to test the linkage of markers, the rate of apomixis, and the degree of genetic interference during meiosis. The model was examined and validated through simulation studies. The model will provide a tool for linkage mapping and evolutionary studies for plant species that undergo apomixis.

  20. Auto safety. Pregnancy and the newborn.

    PubMed

    Krozy, R E; McColgan, J J

    1985-01-01

    An overview of the principles, risks, and benefits, and proper usage of restraints is presented in reference to both the pregnant woman and the newborn. Also, the types and advantages of each restraint are reviewed. Finally, aspects of the nurse's role in the education of new parents during the pre- and postnatal periods are discussed. In this discussion, specific suggestions are given to meet the overall goal of safer auto travel for the pregnant woman and newborn.

  1. Residual linkage: why do linkage peaks not disappear after an association study?

    PubMed

    Gordon, Scott; Visscher, Peter M

    2007-03-01

    Family-based candidate gene and genome-wide association studies are a logical progression from linkage studies for the identification of gene and polymorphisms underlying complex traits. An efficient way to analyse phenotypic and genotypic data is to model linkage and association simultaneously. An important result from such an analysis is whether any evidence for linkage remains after fitting polymorphisms at candidate genes (residual linkage), because this may indicate locus and allelic heterogeneity in the population and will influence subsequent molecular strategies. Here we report that substantial residual linkage is to be expected, even under genetic homogeneity and when the underlying causal polymorphisms are genotyped and fitted in the model. We simulated a powerful design to detect linkage to quantitative trait loci, with 5, 10 or 20 causal SNPs spread throughout the genome. These SNPs were responsible for all genetic variation, and hence for both linkage and association. Residual linkage at the largest linkage peak from a genome-wide scan was substantial, with mean LOD scores of 0.4, 0.7, and 1.4 for the case of 5, 10 and 20 underlying causal SNPs, respectively. For less powerful designs, the proportion of the original LOD scores that remains after association will be even larger. All cases of 'significant' residual linkage are false positives. The reason for the apparent paradox of detecting residual linkage after fitting causal polymorphisms is that the linkage signals at the largest peaks in a genome-scan are severely inflated, even if all peaks correspond to true linkage. Our findings are general and apply to linkage mapping of any phenotype and to any pedigree structure.

  2. Behavioral fever in newborn rabbits

    NASA Technical Reports Server (NTRS)

    Satinoff, E.; Mcewen, G. N., Jr.; Williams, B. A.

    1976-01-01

    New Zealand white rabbit pups aged 12 to 72 hr were divided into three groups and given an intraperitoneal injection of Pseudomonas polysaccharide, a saline vehicle alone, and no treatment, respectively. The animals injected with pyrogen and maintained at an ambient temperature of 32 C for 2 hr did not develop fever. When placed in a thermally graded alleyway, the animals injected with pyrogen selected gradient positions that represented significantly higher temperatures than controls injected with saline. Further stay at selected positions for 5 min caused a considerable increase in the rectal temperature of the pyrogen-injected pups but not that of controls. The results support the hypothesis that newborn rabbits will develop a fever by behavioral means after a single injection of an exogenous pyrogen if the opportunity for thermoregulatory behavior is present. No fever develops if the pups must rely solely on internal thermoregulatory mechanisms. The behavioral system for producing a fever is mature at birth, but an adequate system of internal reflexes does not appear to develop for some days.

  3. Inflammatory cytokines in newborn infants.

    PubMed Central

    Sarandakou, A; Giannaki, G; Malamitsi-Puchner, A; Rizos, D; Hourdaki, E; Protonotariou, E; Phocas, I

    1998-01-01

    Serum levels of IL-1beta, IL-6 and TNF-alpha were measured in 48 healthy, termed neonates on the 1st (N1), 5th (N5) and 40th (N40) day after birth, compared with those in maternal serum (MS), umbilical cord (UC) and adult controls. Cytokine values in N1 and N5 were significantly elevated, than those in UC and in controls (P<0.0001). IL-1beta and IL-6 declined significantly from N1 to N40 (P<0.0001), while TNF-alpha increased significantly from N1 to N5 and declined thereafter. MS infinity IL-1beta and IL-6, but not MS infinity TNF-alpha, were significantly higher than those of controls (P<0.0001). IL-1beta values depended on the mode of delivery. In conclusion, the increased concentrations of IL-1beta, IL-6 and TNF-alpha during the perinatal period might suggest their involvement in an inflammation-like process during normal parturition, and reflect also a newborn immune response to the stress of delivery and environmental changes. PMID:9883964

  4. Evaluation of Pulse Oximetry in the Early Detection of Cyanotic Congenital Heart Disease in Newborns

    PubMed Central

    Movahedian, Amir Hosein; Mosayebi, Ziba; Sagheb, Setareh

    2016-01-01

    Background: Delayed or missed diagnosis of critical and cyanotic congenital heart disease (CHD) in asymptomatic newborns may result in significant morbidity and mortality. The aim of this study was to determine the accuracy of pulse oximetry screening performed on the first day of life for the early detection of critical and cyanotic CHD in apparently normal newborns. Methods: This cross-sectional study used postductal pulse oximetry to evaluate term neonates born between 2008 and 2011 with normal physical examinations. Functional oxygen saturation < 95% was considered abnormal, and second measurement was done 2 hours later. If the second measurement remained < 95%, an echocardiogram was performed. On enrolment in the study, the following data for each neonate were recorded: gestational age, gender, birth weight, mode of delivery, and mother’s age. Results: During the study period, totally 3,846 newborns were evaluated. Of the whole study population, 304 (7.9%) babies had a postductal functional saturation < 95%. The second measurement was also < 95% in 104 (2.7%) neonates. The mean age of the neonates at the time of pulse oximetry was 18.91 ± 8.61 (min = 4.5 and max = 49) hours. Forty-nine percent of the subjects were female and 51% were male. Echocardiography was performed on 81 out of 104 newborns, and 14 (0.36%) of them had CHD. The types of CHD in our patients were tetralogy of Fallot (3 cases), transposition of the great vessels (2 cases), double-outlet right ventricle (2 cases), truncus arteriosus, total anomalous pulmonary venous return, atrioventricular septal defect, pulmonary atresia, persistent pulmonary hypertension, ventricular septal defect, and atrial septal defect (1 case for each type). The best time for pulse oximetry was within 8-24 hours of the newborns’ life. Conclusion: Pulse oximetry screening along with clinical examination may be able to assist in the early detection of critical and cyanotic CHD in asymptomatic newborns. PMID:27928258

  5. [Abnormal haemoglobins in the newborn human population of Costa Rica].

    PubMed

    Abarca, Gabriela; Navarrete, Marta; Trejos, Rafael; de Céspedes, Carlos; Saborío, Manuel

    2008-09-01

    Hemoglobinopathies are hereditary autosomic recessive diseases. A total of 70 943 samples of whole blood collected by heel prick in filter paper (S&S 903) from throughout Costa Rica (October 2005-October 2006) were analyzed to detect variants of hemoglobin by the iso-electric focusing technique. Eight hundred ninety one cases presented some variant, for a frecuency of 1/79. Five cases are homozygous for hemoglobin S (sickle cell disease) and one shows the double heterozygous genotype SC. In this study the S and C variants of hemoglobin, although with some local differences, are widespread all over the country. Thus, the prevention of new cases is important through the testing of hemoglobin in the Costa Rican National Newborn Screening Program, together with a Interdisciplinary National Program of Education for the disease and carrier status (AS/AC) for patients, families and medicar personnel. This is the basis for proper genetic counseling, to improve treatment and to reduce morbi-mortality.

  6. Resuscitation of the Newborn: Simulating for Confidence

    PubMed Central

    Woodman, Anna; McCay, Wendy; Bates, Sarah E

    2016-01-01

    Introduction Non-pediatric trainees working in pediatrics in the UK are expected to attend newborn deliveries and provide initial newborn life support if needed. In Swindon, new junior doctors receive a 90-minute teaching session at the start of their pediatrics rotation, but the content has not previously been standardized, and it may be several weeks before a doctor attends a newborn delivery. Thus, the confidence and competence in newborn resuscitation of doctors attending deliveries can vastly vary. Methods A standardized teaching package was developed as part of the pediatrics induction program. This includes an interactive lecture on the physiology of the newborn, skills stations, and mini-simulations to consolidate skills. This is accompanied by a program of regular neonatal mini-simulations as part of the departmental morning teaching program. These sessions allow junior doctors to practice their skills in a safe, simulated environment and reinforce the newborn life support pathway. Results Qualitative and quantitative feedback was sought following delivery of the induction training session. Junior doctors were asked to rate their confidence before and after the induction session using Likert scales from 1 (least confident) to 5 (most confident). Median confidence in attending term deliveries increased from 2 (range 1 - 4) to 4 (2 - 5), P=0.008. There was evidence that confidence was maintained at one month following induction. Conclusions A simulation program has been successful at improving confidence among junior doctors in attending newborn deliveries. This has the potential to improve patient care and trainees’ experiences of their pediatrics placement. PMID:27774358

  7. Newborn Analgesia Mediated by Oxytocin during Delivery.

    PubMed

    Mazzuca, Michel; Minlebaev, Marat; Shakirzyanova, Anastasia; Tyzio, Roman; Taccola, Giuliano; Janackova, Sona; Gataullina, Svetlana; Ben-Ari, Yehezkel; Giniatullin, Rashid; Khazipov, Rustem

    2011-01-01

    The mechanisms controlling pain in newborns during delivery are poorly understood. We explored the hypothesis that oxytocin, an essential hormone for labor and a powerful neuromodulator, exerts analgesic actions on newborns during delivery. Using a thermal tail-flick assay, we report that pain sensitivity is two-fold lower in rat pups immediately after birth than 2 days later. Oxytocin receptor antagonists strongly enhanced pain sensitivity in newborn, but not in 2-day-old rats, whereas oxytocin reduced pain at both ages suggesting an endogenous analgesia by oxytocin during delivery. Similar analgesic effects of oxytocin, measured as attenuation of pain-vocalization induced by electrical whisker pad stimulation, were also observed in decerebrated newborns. Oxytocin reduced GABA-evoked calcium responses and depolarizing GABA driving force in isolated neonatal trigeminal neurons suggesting that oxytocin effects are mediated by alterations of intracellular chloride. Unlike GABA signaling, oxytocin did not affect responses mediated by P2X3 and TRPV1 receptors. In keeping with a GABAergic mechanism, reduction of intracellular chloride by the diuretic NKCC1 chloride co-transporter antagonist bumetanide mimicked the analgesic actions of oxytocin and its effects on GABA responses in nociceptive neurons. Therefore, endogenous oxytocin exerts an analgesic action in newborn pups that involves a reduction of the depolarizing action of GABA on nociceptive neurons. Therefore, the same hormone that triggers delivery also acts as a natural pain killer revealing a novel facet of the protective actions of oxytocin in the fetus at birth.

  8. [Maternal anaemia: effect on the newborn].

    PubMed

    Toure-Fall, A O; Gadji, M; Diop, S; Dieye, T; Thiam, D; Diakhate, L

    2004-01-01

    Pregnancy increases considerably iron needs in mother and her foetus. The purpose of our study is to measure the effect of maternal anaemia on the foetus and the effect of iron supplementation on the maternal and foetal reserves. Therefore, we conducted a three-month cross sectional study at the gynaecological and obstetrics clinics of Aristide Le Dantec Hospital. Ninety-five women aged 16 to 43 years old and having an haemoglobin rate < 11 g/dl were recruited. Most of them were primipares. Among them 69 had a low ferritinemia (< 50 ng/ml), 36, a ferritinemia collapsed (< 30 ng/ml) and 13 virtually non-existent reserves (< 12 ng/ml). All newborns were born in terms with an apgar score >/= in 93 of them. Among them 24 had anemia (rate of haemoglobin < 14 g/dl) and 54.7% a low ferritinemia. There is no relationship between the maternal and foetal rates of haemoglobin; 74% of newborn had a normal rate of haemoglobin. Among 36 women with low ferritinemia only two gave birth to a newborn without iron reserves. In our study, among 68 women who received iron regularly, 41 had normal reserves and 43 gave birth to a newborn with high ferritinemia. There is significant difference between the women having received iron during their pregnancy and those not supplemented as regards the effect on newborn (p = 0.00001). The prevention of iron deficiency and anaemia can be done by the iron systematic and premat supplementation.

  9. Tachycardia in a newborn with enterovirus infection.

    PubMed

    Banjac, Lidija; Nikcević, Drasko; Vujosević, Danijela; Raonić, Janja; Banjac, Goran

    2014-03-01

    Enterovirus infections are common in the neonatal period. Newborns are at a higher risk of severe disease including meningoencephalitis, sepsis syndrome, cardiovascular collapse, or hepatitis. The mechanism of heart failure in patients with enterovirus infection remains unknown. Early diagnosis may help clinicians predict complications in those infants initially presenting with severe disease. An 11-day-old male newborn was admitted to our neonatal intensive care unit because of tachycardia and crises of cyanosis. His elder brother had febrile illness. The newborn was cyanotic, in respiratory distress, with tachycardia, low blood pressure and prolonged capillary refilling time. Limb pulse oximeter was around 85%. During the first day of hospitalization, the newborn had one febrile episode. Laboratory data: elevated transaminases, markers of inflammation negative, all bacterial cultures negative. Enterovirus RNA was detected in blood sample. Other blood findings were without significant abnormalities. Electrocardiogram showed tachycardia, with narrow QRS complexes (atrial tachycardia) and heart rate up to 280/min. In order to convert the rhythm, the patient was administered adenosine and amiodarone. In the further course of hospitalization, the patient was in good general condition, eucardiac and eupneic. Newborns with tachycardia and a family history of febrile illness should be suspected to have enterovirus infection. Enterovirus infection is a highly contagious and potentially life-threatening infection if not detected early. The use of sensitive molecular-based amplification methods offers potential benefits for early diagnosis and timely treatment.

  10. Ending preventable newborn deaths in a generation.

    PubMed

    Akseer, Nadia; Lawn, Joy E; Keenan, William; Konstantopoulos, Andreas; Cooper, Peter; Ismail, Zulkifli; Thacker, Naveen; Cabral, Sergio; Bhutta, Zulfiqar A

    2015-10-01

    The end of the Millennium Development Goal (MDG) era was marked in 2015, and while maternal and child mortality have been halved, MGD 4 and MDG 5 are off-track at the global level. Reductions in neonatal death rates (age <1 month) lag behind those for post-neonates (age 1-59 months), and stillbirth rates (omitted from the MDGs) have been virtually unchanged. Hence, almost half of under-five deaths are newborns, yet about 80% of these are preventable using cost-effective interventions. The Every Newborn Action Plan has been endorsed by the World Health Assembly and ratified by many stakeholders and donors to reduce neonatal deaths and stillbirths to 10 per 1000 births by 2035. The plan provides an evidence-based framework for scaling up of essential interventions across the continuum of care with the potential to prevent the deaths of approximately three million newborns, mothers, and stillbirths every year. Two million stillbirths and newborns could be saved by care at birth and care of small and sick newborns, giving a triple return on investment at this key time. Commitment, investment, and intentional leadership from global and national stakeholders, including all healthcare professionals, can make these ambitious goals attainable.

  11. Resource linkages and sustainable development

    NASA Astrophysics Data System (ADS)

    Anouti, Yahya

    Historically, fossil fuel consumers in most developing hydrocarbon-rich countries have enjoyed retail prices at a discount from international benchmarks. Governments of these countries consider the subsidy transfer to be a means for sharing the wealth from their resource endowment. These subsidies create negative economic, environmental, and social distortions, which can only increase over time with a fast growing, young, and rich population. The pressure to phase out these subsidies has been mounting over the last years. At the same time, policy makers in resource-rich developing countries are keen to obtain the greatest benefits for their economies from the extraction of their exhaustible resources. To this end, they are deploying local content policies with the aim of increasing the economic linkages from extracting their resources. Against this background, this dissertation's three essays evaluate (1) the global impact of rationalizing transport fuel prices, (2) how resource-rich countries can achieve the objectives behind fuel subsidies more efficiently through direct cash transfers, and (3) the economic tradeoffs from deploying local content policies and the presence of an optimal path. We begin by reviewing the literature and building the case for rationalizing transport fuel prices to reflect their direct costs (production), indirect costs (road maintenance) and negative externalities (climate change, local pollutants, traffic accidents and congestion). To do so, we increase the scope of the economic literature by presenting an algorithm to evaluate the rationalized prices in different countries. Then, we apply this algorithm to quantify the rationalized prices across 123 countries in a partial equilibrium setting. Finally, we present the first comprehensive measure of the impact of rationalizing fuel prices on the global demand for gasoline and diesel, environmental emissions, government revenues, and consumers' welfare. By rationalizing transport fuel

  12. Linkage: from particulate to interactive genetics.

    PubMed

    Falk, Raphael

    2003-01-01

    Genetics was established on a strict particulate conception of heredity. Genetic linkage, the deviation from independent segregation of Mendelian factors, was conceived as a function of the material allocation of the factors to the chromosomes, rather than to the multiple effects (pleiotropy) of discrete factors. Although linkage maps were abstractions they provided strong support for the chromosomal theory of inheritance. Direct Cytogenetic evidence was scarce until X-ray induced major chromosomal rearrangements allowed direct correlation of genetic and cytological rearrangements. Only with the discovery of the polytenic giant chromosomes in Drosophila larvae in the 1930s were the virtual maps backed up by physical maps of the genetic loci. Genetic linkage became a pivotal experimental tool for the examination of the integration of genetic functions in development and in evolution. Genetic mapping has remained a hallmark of genetic analysis. The location of genes in DNA is a modern extension of the notion of genetic linkage.

  13. Investigations of Three-Point Linkage

    ERIC Educational Resources Information Center

    Mertens, Thomas R.

    1972-01-01

    Describes sequence of activities for teaching three-point linkage concept and gene-mapping to high school biology students. Includes laboratory experiments and hypothetical examples for classroom discussion. (PS)

  14. Linkage studies in primary open angle glaucoma

    SciTech Connect

    Avramopoulos, D.; Grigoriadu, M.; Kitsos, G.

    1994-09-01

    Glaucoma is a leading cause of blindness worldwide. The majority of glaucoma is associated with an open, normal appearing anterior chamber angle and is termed primary open angle glaucoma (POAG, MIM 137760). It is characterized by elevated intraocular pressure and onset in middle age or later. A subset of POAG with juvenile onset has recently been linked to chromosome 1q in two families with autosomal dominant inheritance. Eleven pedigrees with autosomal dominant POG (non-juvenile-onset) have been identified in Epirus, Greece. In the present study DNA samples have been collected from 50 individuals from one large pedigree, including 12 affected individuals. Preliminary results of linkage analysis with chromosome 1 microsatellites using the computer program package LINKAGE Version 5.1 showed no linkage with the markers previously linked to juvenile-onset POAG. Further linkage analysis is being pursued, and the results will be presented.

  15. An approach to investigating linkage for bipolar disorder using large Costa Rican pedigrees

    SciTech Connect

    Freimer, N.B.; Reus, V.I.; Vinogradov, S.

    1996-05-31

    Despite the evidence that major gene effects exist for bipolar disorder (BP), efforts to map BP loci have so far been unsuccessful. A strategy for mapping BP loci is described, focused on investigation of large pedigrees from a genetically homogenous population, that of Costa Rica. This approach is based on the use of a conservative definition of the BP phenotype in preparation for whole genome screening with polymorphic markers. Linkage simulation analyses are utilized to indicate the probability of detecting evidence suggestive of linkage, using these pedigrees. These analyses are performed under a series of single locus models, ranging form recessive to nearly dominant, utilizing both lod score and affected pedigree member analyses. Additional calculations demonstrate that with any of the models employed, most of the information for linkage derives from affected rather than unaffected individuals. 26 refs., 2 figs., 5 tabs.

  16. Use of linkage disequilibrium approaches to map genes for bipolar disorder in the Costa Rican population

    SciTech Connect

    Escamilla, M.A.; Reus, V.I.; Smith, L.B.; Freimer, N.B.

    1996-05-31

    Linkage disequilibrium (LD) analysis provides a powerful means for screening the genome to map the location of disease genes, such as those for bipolar disorder (BP). As described in this paper, the population of the Central Valley of Costa Rica, which is descended from a small number of founders, should be suitable for LD mapping; this assertion is supported by reconstruction of extended haplotypes shared by distantly related individuals in this population suffering low-frequency hearing loss (LFHL1), which has previously been mapped by linkage analysis. A sampling strategy is described for applying LD methods to map genes for BP, and clinical and demographic characteristics of an initially collected sample are discussed. This sample will provide a complement to a previously collected set of Costa Rican BP families which is under investigation using standard linkage analysis. 42 refs., 4 figs., 2 tabs.

  17. Oxidative Stress Related Diseases in Newborns

    PubMed Central

    Aykac, Kubra

    2016-01-01

    We review oxidative stress-related newborn disease and the mechanism of oxidative damage. In addition, we outline diagnostic and therapeutic strategies and future directions. Many reports have defined oxidative stress as an imbalance between an enhanced reactive oxygen/nitrogen species and the lack of protective ability of antioxidants. From that point of view, free radical-induced damage caused by oxidative stress seems to be a probable contributing factor to the pathogenesis of many newborn diseases, such as respiratory distress syndrome, bronchopulmonary dysplasia, periventricular leukomalacia, necrotizing enterocolitis, patent ductus arteriosus, and retinopathy of prematurity. We share the hope that the new understanding of the concept of oxidative stress and its relation to newborn diseases that has been made possible by new diagnostic techniques will throw light on the treatment of those diseases. PMID:27403229

  18. Neurotransmitter properties of the newborn human retina

    SciTech Connect

    Hollyfield, J.G.; Frederick, J.M.; Rayborn, M.E.

    1983-07-01

    Human retinal tissue from a newborn was examined autoradiographically for the presence of high-affinity uptake and localization of the following putative neurotransmitters: dopamine, glycine, GABA, aspartate, and glutamate. In addition, the dopamine content of this newborn retina was measured by high pressure liquid chromatography. Our study reveals that specific uptake mechanisms for /sup 3/H-glycine, /sup 3/H-dopamine, and /sup 3/H-GABA are present at birth. However, the number and distribution of cells labeled with each of these /sup 3/H-transmitters are not identical to those observed in adult human retinas. Furthermore, the amount of endogenous dopamine in the newborn retina is approximately 1/20 the adult level. Photoreceptor-specific uptake of /sup 3/H-glutamate and /sup 3/H-aspartate are not observed. These findings indicate that, while some neurotransmitter-specific properties are present at birth, significant maturation of neurotransmitter systems occurs postnatally.

  19. Respiratory distress of the term newborn infant.

    PubMed

    Edwards, Martin O; Kotecha, Sarah J; Kotecha, Sailesh

    2013-03-01

    Respiratory distress is recognised as any signs of breathing difficulties in neonates. In the early neonatal period respiratory distress is common, occurring in up to 7% of newborn infants, resulting in significant numbers of term-born infants being admitted to neonatal units. Many risk factors are involved; the increasing number of term infants delivered by elective caesarean section has also increased the incidence. Additionally the risk decreases with each advancing week of gestation. At 37 weeks, the chances are three times greater than at 39-40 weeks gestation. Multiple conditions can present with features of respiratory distress. Common causes in term newborn infants include transient tachypnoea of the newborn, respiratory distress syndrome, pneumonia, meconium aspiration syndrome, persistent pulmonary hypertension of the neonate and pneumothorax. Early recognition of respiratory distress and initiation of appropriate treatment is important to ensure optimal outcomes. This review will discuss these common causes of respiratory distress in term-born infants.

  20. Genetic linkage studies in autosomal recessive retinitis pigmentosa

    SciTech Connect

    Mansfield, D.C.; Teague, P.W.; Barber, A.

    1994-09-01

    Autosomal recessive retinitis pigmentosa (arRP) is a severe retinal dystrophy characterized by night blindness, progressive constriction of the visual fields and loss of central vision in the fourth or fifth decades. The frequency of this form of retinitis pigmentosa (RP) varies in different populations. Mutations within the rhodopsin, cyclic GMP phosphodiesterase-{beta} subunit and cGMP-gated channel genes have been reported in some arRP families. The genetic loci responsible for the majority of cases have yet to be identified. Genetic heterogeneity is likely to be extensive. In order to minimize the amount of genetic heterogenity, a set of arRP families was ascertained within the South-Central Sardinian population, in which 81% of families with a known mode of inheritance show an autosomal recessive form of RP. The Sardinian population is an ethnic {open_quotes}outlier{close_quotes}, having remained relatively isolated from mainland and other cultures. Genetic linkage data has been obtained in a set of 11 Sardinian arRP kindreds containing 26 affected members. Under the assumption of genetic homogeneity, no evidence of linkage was found in the arRP kindreds using 195 markers, which excluded 62% of the genome (Z<-2). Positive lod scores were obtained with D14S80 which showed no recombination in a subset of 5 families. Heterogeneity testing using D14S80 and arRP showed no significant evidence of heterogeneity (p=0.18) but evidence of linkage ({chi}{sup 2}=3.64, p=0.028). We are currently screening the neural retina-specific leucine zipper gene (NRL) in 14q11 for mutations as a candidate locus.

  1. Positional cloning by linkage disequilibrium.

    PubMed

    Maniatis, Nikolas; Collins, Andrew; Gibson, Jane; Zhang, Weihua; Tapper, William; Morton, Newton E

    2004-05-01

    Recently, metric linkage disequilibrium (LD) maps that assign an LD unit (LDU) location for each marker have been developed (Maniatis et al. 2002). Here we present a multiple pairwise method for positional cloning by LD within a composite likelihood framework and investigate the operating characteristics of maps in physical units (kb) and LDU for two bodies of data (Daly et al. 2001; Jeffreys et al. 2001) on which current ideas of blocks are based. False-negative indications of a disease locus (type II error) were examined by selecting one single-nucleotide polymorphism (SNP) at a time as causal and taking its allelic count (0, 1, or 2, for the three genotypes) as a pseudophenotype, Y. By use of regression and correlation, association between every pseudophenotype and the allelic count of each SNP locus (X) was based on an adaptation of the Malecot model, which includes a parameter for location of the putative gene. By expressing locations in kb or LDU, greater power for localization was observed when the LDU map was fitted. The efficiency of the kb map, relative to the LDU map, to describe LD varied from a maximum of 0.87 to a minimum of 0.36, with a mean of 0.62. False-positive indications of a disease locus (type I error) were examined by simulating an unlinked causal SNP and the allele count was used as a pseudophenotype. The type I error was in good agreement with Wald's likelihood theorem for both metrics and all models that were tested. Unlike tests that select only the most significant marker, haplotype, or haploset, these methods are robust to large numbers of markers in a candidate region. Contrary to predictions from tagging SNPs that retain haplotype diversity, the sample with smaller size but greater SNP density gave less error. The locations of causal SNPs were estimated with the same precision in blocks and steps, suggesting that block definition may be less useful than anticipated for mapping a causal SNP. These results provide a guide to efficient

  2. Candida infections in newborns: a review.

    PubMed

    Khoory, B J; Vino, L; Dall'Agnola, A; Fanos, V

    1999-10-01

    Despite adequate treatment, nosocomial fungal infections have become an increasingly important cause of morbidity, extended hospitalization, and mortality in critically ill newborn babies. Furthermore, the high incidence of central nervous system involvement in septic newborns frequently results in serious neurological damage and psychomotorial sequelae. The prevention of fungal colonization in the population at risk, together with prompt diagnosis and treatment, are an efficient combination which lead to a better outcome of neonatal fungal infections. New drugs characterized by great efficacy and tolerance have recently been employed in clinical practice. This article summarizes certain aspects of Candida spp. infections in the neonatal period with regard to multisystemic presentation and involvement.

  3. A newborn with antenatal testis tortion

    PubMed Central

    Çelik, Fatma Çakmak; Aygün, Canan; Ayçiçek, Tuğba; Aykanat, Mustafa Alper; Ayyıldız, Suat

    2014-01-01

    Testis tortion in the newborn (especially antenatal testis tortion) is observed very rarely and constitutes 10-12% of childhood testis tortions. In testis tortion, firm and painless testicular tissue is palpated on physical examination. Doppler ultrasonography is a sensitive method in the diagnosis. In cases of neonatal testis tortion, the testis can be saved with appropriate surgical exploration in only 0–5% of the cases. Here, a newborn with antenatal testis tortion who underwent orchiectomy in the first day of life was presented. PMID:26078672

  4. What to do with an obstructed newborn.

    PubMed

    Bravo Bravo, M C; García-Herrera Taillefer, P

    2016-05-01

    Bowel obstruction is the most common abdominal emergency in newborns. Managing bowel obstruction is a challenge for both clinicians and radiologists. The clinical presentation is nonspecific, and both the diagnosis and subsequent management are based on imaging studies. The traditional approach to studying obstructed newborns consists of plain-film abdominal X-rays and contrast-based studies of the gastrointestinal tract. Ultrasonography has proven useful in bowel obstruction, thus avoiding the use of ionizing radiation in certain cases, so diagnostic strategies should include it as a first-line technique. Using an appropriate combination of these techniques, it is possible to reach an accurate diagnosis quickly, orienting treatment and decreasing complications.

  5. Reevaluation of the newborn thyroid dose from radioiodines

    SciTech Connect

    Hedrick, W.R.; Milavickas, L.R.

    1987-07-01

    The basis for the current thyroid absorbed dose estimates for radioiodines has been examined. The values for the newborn thyroid dose were found to underestimate the dose by a factor of 3. This underestimation of the dose was caused by the assumption that the biokinetic distribution of iodine is the same for the newborn and the adult. Increased thyroid uptake by the newborn requires that higher cumulated activities be incorporated into the dose determinations for the newborn.

  6. Comparing Linkage Designs Based on Land Facets to Linkage Designs Based on Focal Species

    PubMed Central

    Brost, Brian M.; Beier, Paul

    2012-01-01

    Least-cost modeling for focal species is the most widely used method for designing conservation corridors and linkages. However, these designs depend on today's land covers, which will be altered by climate change. We recently proposed an alternative approach based on land facets (recurring landscape units of relatively uniform topography and soils). The rationale is that corridors with high continuity of individual land facets will facilitate movement of species associated with each facet today and in the future. Conservation practitioners might like to know whether a linkage design based on land facets is likely to provide continuity of modeled breeding habitat for species needing connectivity today, and whether a linkage for focal species provides continuity and interspersion of land facets. To address these questions, we compared linkages designed for focal species and land facets in three landscapes in Arizona, USA. We used two variables to measure linkage utility, namely distances between patches of modeled breeding habitat for 5–16 focal species in each linkage, and resistance profiles for focal species and land facets between patches connected by the linkage. Compared to focal species designs, linkage designs based on land facets provided as much or more modeled habitat connectivity for 25 of 28 species-landscape combinations, failing only for the three species with the most narrowly distributed habitat. Compared to land facets designs, focal species linkages provided lower connectivity for about half the land facets in two landscapes. In areas where a focal species approach to linkage design is not possible, our results suggest that conservation practitioners may be able to implement a land facets approach with some confidence that the linkage design would serve most potential focal species. In areas where focal species designs are possible, we recommend using the land facet approach to complement, rather than replace, focal species approaches. PMID

  7. A PCR-based linkage map of human chromosome 1

    SciTech Connect

    Engelstein, M.; Hudson, T.J.; Lane, J.M.; Lee, M.K.; Dracopoli, C. ); Leverone, B.; Landes, G.M. ); Peltonen, L. ); Weber, J.L. )

    1993-02-01

    A genetic linkage map of human chromosome 1 based entirely on PCR-typable markers has been developed using 38 simple sequence repeat (SSR) polymorphisms. These SSRs include 36 dinucleotide repeats and 2 tetranucleotide repeats. The average heterozygosity at these markers was 0.73 and ranged form 0.52 to 0.95. Multipoint linkage analysis was used to develop a map of these 38 markers in which the relative placement of each locus is supported by likelihood odds > 1000:1. This PCR-based map was anchored at the centromere by the D1Z5 [alpha]-satellite polymorphism, and the ends of the map were defined by D1Z2 and D1S68, which are the most distal loci in the CEPH consortium map of chromosome 1. The sex-averaged, male, and female maps extend for 328, 273, and 409 cM, respectively. The average distance between markers on the sex-averaged map is 8 cM, and the largest interval is 32 cM. This map of highly informative PCR-based markers will provide a rapid means of screening human chromosome 1 for the presence of disease genes. 36 refs., 4 figs., 4 tabs.

  8. Linkage and mutation analysis of Thomsen and Becker myotonia families

    SciTech Connect

    Koty, P.P.; Pegoraro, E.; Hoffman, E.P.

    1994-09-01

    Thomsen (autosomal dominant) and Becker (autosomal recessive) myotonias are characterized by the inability for muscle relaxation after voluntary, mechanical, or electrical stimulation. Families with both diseases have been linked to the skeletal muscle chloride channel (CLC1) on chromosome 7q35; however, only 2 gene mutations have been identified, and the reasons underlying the alternative dominant or recessive inheritance are not clear. We used linkage analysis and SSCP of 23 exons to screen 8 families (56 individuals) and 7 isolated cases with the diagnosis of Thomsen/Becker myotonia. A novel mutation (1290M) in exon 8 was detected in a family with Thomsen disease. Three additional families showed the previously described G230E change. Thus, chloride channel mutations could be identified in 4/5 families showing dominant inheritance. We were able to exclude linkage to the CLC1 gene in the fifth family. In patients with recessive Becker disease, an isolated case had two unique conformers, one causing a novel A437T change in exon 12. We also identified the previously reported F413C change in a second family. We found significant differences in the clinical picture between families with different mutations but also in families with the same mutation. Our data indicates that DNA studies are critical for correct diagnosis of the myotonias.

  9. Differential Facial Responses to Four Basic Tastes in Newborns.

    ERIC Educational Resources Information Center

    Rosentstein, Diana; Oster, Harriet

    1988-01-01

    Investigated the distinctiveness and recognizability of taste-elicited facial expressions in 12 newborns two hours of age. Findings demonstrated that newborns differentiate sour and bitter from each other and from salty, and discriminate between sweet and nonsweet. Judges accurately identified newborns' responses to sucrose, but systematically…

  10. [Neonatal screening for congenital hypothyroidism and phenylketonuria].

    PubMed

    Velázquez, A; Loera-Luna, A; Aguirre, B E; Gamboa, S; Vargas, H; Robles, C

    1994-01-01

    A newborn screening program for congenital hypothyroidism (CH) and phenylketonuria (PKU) was conducted in 140 163 infants from the Federal District and the states of Mexico and Tlaxcala. These children were born mainly in hospitals for the non-insured population, although some were social security beneficiaries. Their filter-paper blood TSH and phenylalanine concentrations were determined 48 hours after birth. The frequency of CH was 1:1 797, with a 95 per cent confidence interval of 1:1 470 to 1:2 315, and was quite similar in the different types of hospitals. Only two PKU cases were found, for a frequency of 1:70 082, with a 95 per cent confidence interval of 0 to 1:4 762. This work demonstrates the feasibility of newborn screening programs in Mexico, identifies the problems to be solved in order to achieve a wide coverage and establishes the high frequency of CH in the Mexican population.

  11. Management of Newborn Infants with Phenylketonuria.

    ERIC Educational Resources Information Center

    Health Services Administration (DHEW/PHS), Rockville, MD. Bureau of Community Health Services.

    The booklet covers the identification, diagnosis, and clinical treatment of newborns with Phenylketonuria (PKU), an inborn error of metabolism, which, if untreated, can lead to mental retardation. An initial section considers biochemical and genetic factors of PKU including a diagram of aromatic amino acid hydroxylation systems. Screening…

  12. [Cerebral Doppler ultrasonography in newborn infants].

    PubMed

    Luciano, R; Velardi, F

    1995-01-01

    Following the first study of Bada et al. (1979), Doppler assessment of cerebral blood flow has increasingly been used in newborn infants, matching the technical progress in the available equipment. The experience gathered in recent years has confirmed that Doppler US is a reliable and reproducible examination while precising the limitations and the methodology to be followed in order to prevent gross errors of assessment and interpretation. The interest this procedure has arisen, among other things, stems from being noninvasive and feasible at the patient's bed. These features enable its repeated use in newborn infants in poor clinical condition. The diagnostic and prognostic role of Doppler velocimetry has been shown in a number of neonatal diseases and the cerebral hemodynamics has been assessed in physiologic conditions as well as after drug administration. The most common equipment used in newborn infants is at present Duplex Doppler consisting of a pulsed Doppler combined with bidimensional scanner, which, with visualization of study arteries, enables precise positioning of sample volume and correction of the ultrasonic angle of incidence with respect to the direction of blood flow in the examined vessel. In this report, after a survey of the techniques and modalities of cerebral Doppler examination in newborns, a review of the present state of the art, in neonatal cerebral as well as extracranial disease, is presented.

  13. Unexpected behavioural consequences of preterm newborns' clothing.

    PubMed

    Durier, Virginie; Henry, Séverine; Martin, Emmanuelle; Dollion, Nicolas; Hausberger, Martine; Sizun, Jacques

    2015-03-17

    Restrictions of preterm newborns' movements could have consequences ranging from stress enhancement to impairment of their motor development. Therefore, ability to freely express motor activities appears crucial for their behavioural and physiological development. Our aim was to evaluate behavioural issues of two types of clothing used in NICU. We observed 18 healthy 34-37 post-conception week-old preterm newborns, during resting periods, when they were undisturbed by any interventions. Newborns wore either light clothing (bodysuit and a light wrapping) or heavy clothing (pyjamas, cardigan and sleep-sack). The percentages of time each subject spent in different postures were compared between clothing situations. Arm and hand postures differed in relation to clothing: babies bent their arms more and held their hands nearer their heads when in bodysuits than when in sleepwear. Consequently, babies in bodysuits spent more time touching their body or their environment whereas the others generally were touching nothing. Self-touch is an important way to comfort one's self. Heavy clothing may impair self-soothing behaviours of preterm newborn babies that already lack other forms of contact. Results suggest that more attention should be paid to apparently routine and marginal decisions such as choice of clothes.

  14. Iris pigment epithelial cysts in a newborn

    PubMed Central

    Zargar, Shabnam; Prendiville, Kevin John; Martinez, Eladio

    2016-01-01

    Purpose: We report a case of iris pigment epithelial cysts in a newborn and discuss the importance of an accurate diagnosis for prevention of amblyopia. Methods: We describe a case of an abnormal red reflex seen on a newborn exam. Results: A full-term female born via normal spontaneous vaginal delivery without any complications was seen in the newborn nursery. She was noted to have an abnormal eye exam. Pupils were large with circular dark excrescences of the iris pigment epithelium. She was referred to a pediatric ophthalmologist where she was noted to fixate and follow faces. No afferent pupillary defect was seen. OD red reflex was normal whereas OS red reflex was blocked mostly by dark excrescences. A 2–3 mm dark brown lesion was seen in the OD iris and a 3–5 mm dark brown lesion was seen in the OS iris, consistent with a pupillary iris pigment epithelial cyst. Central visual axis was clear OU. Glaucoma was not present and patching was not performed. Observations and clinical photographs were recommended with follow-up in three months. Conclusion: Iris pigment epithelial cysts are uncommonly seen in children. The primary care provider first seeing a newborn must be aware of lesions obscuring a red reflex with appropriate follow-up. Follow-up in three months with IOP measurements is recommended. Iris pigment epithelial cysts in children may be a cause of amblyopia, thus prompt evaluation is important for prognostic purposes and the prevention of amblyopia. PMID:27625966

  15. Sex Stereotyping in Parents' Perceptions of Newborns.

    ERIC Educational Resources Information Center

    Karraker, Katherine Hildebrandt; Vogel, Dena Ann

    This study updates and extends the findings of Rubin, Provenzano, and Luria (1974), who found that parents perceived their newborn in sex stereotyped ways as early as a few hours after birth. In addition, fathers in their study showed more extreme sex stereotyping than mothers. Participants in the present study were 20 pairs of Caucasian,…

  16. Newborn jaundice - what to ask your doctor

    MedlinePlus

    ... Kaplan M, Wong RJ, Sibley E, Stevenson DK. Neonatal jaundice and liver diseases. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine . 10th ed. Philadelphia, PA: Elsevier Mosby; 2015:chap 100. Read More ... Newborn jaundice - discharge Review Date 2/ ...

  17. Binocular Fixation in the Newborn Baby

    ERIC Educational Resources Information Center

    Slater, Alan M.; Findlay, John M.

    1975-01-01

    Three experiments are reported in which 15 babies were presented with visual stimuli which varied in shape and distance from the eye. Results indicated that the majority of subjects binocularly fixated all three stimuli and it was concluded that the newborn baby has the basic requirements for binocular vision. (Author/GO)

  18. Newborns' Face Recognition over Changes in Viewpoint

    ERIC Educational Resources Information Center

    Turati, Chiara; Bulf, Hermann; Simion, Francesca

    2008-01-01

    The study investigated the origins of the ability to recognize faces despite rotations in depth. Four experiments are reported that tested, using the habituation technique, whether 1-to-3-day-old infants are able to recognize the invariant aspects of a face over changes in viewpoint. Newborns failed to recognize facial perceptual invariances…

  19. Perceptual Completion in Newborn Human Infants

    ERIC Educational Resources Information Center

    Valenza, Eloisa; Leo, Irene; Gava, Lucia; Simion, Francesca

    2006-01-01

    Despite decades of studies of human infants, a still open question concerns the role of visual experience in the development of the ability to perceive complete shapes over partial occlusion. Previous studies show that newborns fail to manifest this ability, either because they lack the visual experience required for perceptual completion or…

  20. Auditory-Oral Matching Behavior in Newborns

    ERIC Educational Resources Information Center

    Chen, Xin; Striano, Tricia; Rakoczy, Hannes

    2004-01-01

    Twenty-five newborn infants were tested for auditory-oral matching behavior when presented with the consonant sound /m/ and the vowel sound /a/--a precursor behavior to vocal imitation. Auditory-oral matching behavior by the infant was operationally defined as showing the mouth movement appropriate for producing the model sound just heard (mouth…

  1. Congenital lower limb enlargement in a newborn.

    PubMed

    Perez-Crespo, María; Betlloch, Isabel; Martinez-Miravete, Maria Teresa; Ballester, Irene; Lucas, Ana; Mataix, Javier

    2011-01-01

    A full-term newborn presented with swelling of his right leg soon after birth. There was no alteration in Doppler. The grandmother and other relatives were said to have shown a similar history at birth. Milroy's disease was then diagnosed and compressive massage was advised.

  2. A Genetic Linkage Map of Saccharum Spontaneum L. `ses 208'

    PubMed Central

    Al-Janabi, S. M.; Honeycutt, R. J.; McClelland, M.; Sobral, BWS.

    1993-01-01

    The arbitrarily primed polymerase chain reaction was used to detect single-dose polymorphisms that, in turn, were used to generate a linkage map of a polyploid relative of cultivated sugarcane, Saccharum spontaneum `SES 208' (2n = 64). The mapping population was composed of 88 progeny from a cross between SES 208 and a diploidized haploid derived from SES 208 by anther culture, ADP 85-0068. This cross allowed direct analysis of meiosis in SES 208 and gametic segregation ratios to be observed. One hundred twenty-seven 10-mer oligonucleotide primers of arbitrary sequence were selected from a pool of 420 primers used to screen the mapping parents. Three hundred thirty-six of the 420 primers amplified 4,540 loci or 13.5 loci per primer. The selected 127 primers revealed 2,160 loci of which 279 were present in SES 208 and absent in ADP 85-0068 and easily scored. Two hundred and eight (74.6%) of these 279 polymorphisms were single-dose polymorphisms (i.e., they displayed 1:1 segregation, χ(2) at 98% confidence level). Linkage analysis (θ = 0.25, LOD = 9.0 for two-point analysis, then θ = 0.25, LOD = 6.0 for multipoint analysis) of single-dose polymorphisms placed them into 42 linkage groups containing at least 2 markers. These single-dose markers span 1,500 contiguous centimorgans (cM) with 32 markers remaining unlinked (15.4%). From this 208-marker map we estimated the genome size of SES 208 to be 2,550 cM. The map has a predicted coverage of 85.1% at 30 cM, meaning that any new marker placed has an 85.1% chance of being within 30 cM of an existing marker. Furthermore, we show that SES 208 behaves like an autopolyploid because (i) the ratio of single-dose markers to higher dose markers fit the assumption of autooctaploidy and (ii) the absence of repulsion phase linkages. This is the first genetic map constructed directly on a polyploid species for which no diploid relatives are known. PMID:8375659

  3. Disulphide linkage in mouse ST6Gal-I: determination of linkage positions and mutant analysis.

    PubMed

    Hirano, Yuichi; Suzuki, Takehiro; Matsumoto, Takumi; Ishihara, Yoshimi; Takaki, Yoshie; Kono, Mari; Dohmae, Naoshi; Tsuji, Shuichi

    2012-02-01

    All cloned sialyltransferases from vertebrates are classified into four subfamilies and are characterized as having type II transmembrane topology. The catalytic domain has highly conserved motifs known as sialylmotifs. Besides sialylmotifs, each family has several unique conserved cysteine (Cys) residues mainly in the catalytic domain. The number and loci of conserved amino acids, however, differ with each subfamily, suggesting that the conserved Cys-residues and/or disulphide linkages they make may contribute to linkage specificity. Using Matrix Assisted Laser Desorption/Ionization-Time of Flight Mass Spectrometry (MALDI-TOF)-mass spectrometry, the present study performed disulphide linkage analysis on soluble mouse ST6Gal-I, which has six Cys-residues. Results confirmed that there were no free Cys-residues, and all six residues contributed to disulphide linkage formation, C(139)-C(403), C(181)-C(332) and C(350)-C(361). Study of single amino acid-substituted mutants revealed that the disulphide linkage C(181)-C(332) was necessary for molecular expression of the enzyme, and that the disulphide linkage C(350)-C(361) was necessary for enzyme activity. The remaining disulphide linkage C(139)-C(403) was not necessary for enzyme expression or for activity, including substrate specificity. Crystallographic study of pig ST3Gal I has recently been reported. Interestingly, the loci of disulphide linkages in ST6Gal-I differ from those in ST3Gal I, suggesting that the linkage specificity of sialyltransferase may results from significant structural differences, including the loci of disulphide linkages.

  4. Congenital methemoglobinaemia due to Hb F-M-Fort Ripley in a preterm newborn.

    PubMed

    Ghotra, Satvinder; Jangaard, Krista; Pambrun, Chantale; Fernandez, Conrad Vincent

    2016-03-11

    Methemoglobinaemia is a rare cause of cyanosis in newborns. Congenital methemoglobinaemias due to M haemoglobin or deficiency of cytochrome b5 reductase are even rarer. We present a case of congenital methemoglobinaemia presenting at birth in a preterm infant. A baby boy born at 29 weeks and 3 days of gestation had persistent central cyanosis immediately after delivery, not attributable to a respiratory or cardiac pathology. Laboratory methemoglobin levels were not diagnostic. Cytochrome b5 reductase levels were normal and a newborn screen was unable to pick up any abnormal variants of fetal haemoglobin. Genetic testing showed a γ globin gene mutation resulting in the M haemoglobin, called Hb F-M-Fort Ripley. The baby had no apparent cyanosis at a corrected gestational age of 42 weeks. Although rare, congenital methaemoglobin aemia should be considered in the differential in a preterm with central cyanosis and investigated with genetic testing for γ globin chain mutations if other laboratory tests are non-conclusive.

  5. Frequency of Spontaneous BOLD Signal Differences between Moderate and Late Preterm Newborns and Term Newborns.

    PubMed

    Wu, Xiushuang; Wei, Luqing; Wang, Nan; Hu, Zhangxue; Wang, Li; Ma, Juan; Feng, Shuai; Cai, Yue; Song, Xiaopeng; Shi, Yuan

    2016-10-01

    Little is known about the frequency features of spontaneous neural activity in the brains of moderate and late preterm (MLPT) newborns. We used resting-state functional magnetic resonance imaging (rs-fMRI) and the amplitude of low-frequency fluctuation (ALFF) method to investigate the frequency properties of spontaneous blood oxygen level-dependent (BOLD) signals in 26 MLPT and 35 term newborns. Two frequency bands, slow-4 (0.027-0.073 Hz) and slow-5 (0.01-0.027 Hz), were analyzed. Our results showed widespread differences in ALFF between the two bands; differences occurred mainly in the primary sensory and motor cortices and to a lesser extent in association cortices and subcortical areas. Compared with term newborns, MLPT newborns showed significantly altered neural activity predominantly in the primary sensory and motor cortices and in the posterior cingulate gyrus/precuneus. In addition, a significant interaction between frequency bands and groups was observed in the primary somatosensory cortex. Intriguingly, these primary sensory and motor regions have been proven to be the major cortical hubs during the neonatal period. Our results revealed the frequency of spontaneous BOLD signal differences between MLPT and term newborns, which contribute to the understanding of regional development of spontaneous brain rhythms of MLPT newborns.

  6. A Genetic Linkage Map for Cattle

    PubMed Central

    Bishop, M. D.; Kappes, S. M.; Keele, J. W.; Stone, R. T.; Sunden, SLF.; Hawkins, G. A.; Toldo, S. S.; Fries, R.; Grosz, M. D.; Yoo, J.; Beattie, C. W.

    1994-01-01

    We report the most extensive physically anchored linkage map for cattle produced to date. Three-hundred thirteen genetic markers ordered in 30 linkage groups, anchored to 24 autosomal chromosomes (n = 29), the X and Y chromosomes, four unanchored syntenic groups and two unassigned linkage groups spanning 2464 cM of the bovine genome are summarized. The map also assigns 19 type I loci to specific chromosomes and/or syntenic groups and four cosmid clones containing informative microsatellites to chromosomes 13, 25 and 29 anchoring syntenic groups U11, U7 and U8, respectively. This map provides the skeletal framework prerequisite to development of a comprehensive genetic map for cattle and analysis of economic trait loci (ETL). PMID:7908653

  7. A reference linkage map for Eucalyptus

    PubMed Central

    2012-01-01

    Background Genetic linkage maps are invaluable resources in plant research. They provide a key tool for many genetic applications including: mapping quantitative trait loci (QTL); comparative mapping; identifying unlinked (i.e. independent) DNA markers for fingerprinting, population genetics and phylogenetics; assisting genome sequence assembly; relating physical and recombination distances along the genome and map-based cloning of genes. Eucalypts are the dominant tree species in most Australian ecosystems and of economic importance globally as plantation trees. The genome sequence of E. grandis has recently been released providing unprecedented opportunities for genetic and genomic research in the genus. A robust reference linkage map containing sequence-based molecular markers is needed to capitalise on this resource. Several high density linkage maps have recently been constructed for the main commercial forestry species in the genus (E. grandis, E. urophylla and E. globulus) using sequenced Diversity Arrays Technology (DArT) and microsatellite markers. To provide a single reference linkage map for eucalypts a composite map was produced through the integration of data from seven independent mapping experiments (1950 individuals) using a marker-merging method. Results The composite map totalled 1107 cM and contained 4101 markers; comprising 3880 DArT, 213 microsatellite and eight candidate genes. Eighty-one DArT markers were mapped to two or more linkage groups, resulting in the 4101 markers being mapped to 4191 map positions. Approximately 13% of DArT markers mapped to identical map positions, thus the composite map contained 3634 unique loci at an average interval of 0.31 cM. Conclusion The composite map represents the most saturated linkage map yet produced in Eucalyptus. As the majority of DArT markers contained on the map have been sequenced, the map provides a direct link to the E. grandis genome sequence and will serve as an important reference for

  8. Some methods for blindfolded record linkage

    PubMed Central

    Churches, Tim; Christen, Peter

    2004-01-01

    Background The linkage of records which refer to the same entity in separate data collections is a common requirement in public health and biomedical research. Traditionally, record linkage techniques have required that all the identifying data in which links are sought be revealed to at least one party, often a third party. This necessarily invades personal privacy and requires complete trust in the intentions of that party and their ability to maintain security and confidentiality. Dusserre, Quantin, Bouzelat and colleagues have demonstrated that it is possible to use secure one-way hash transformations to carry out follow-up epidemiological studies without any party having to reveal identifying information about any of the subjects – a technique which we refer to as "blindfolded record linkage". A limitation of their method is that only exact comparisons of values are possible, although phonetic encoding of names and other strings can be used to allow for some types of typographical variation and data errors. Methods A method is described which permits the calculation of a general similarity measure, the n-gram score, without having to reveal the data being compared, albeit at some cost in computation and data communication. This method can be combined with public key cryptography and automatic estimation of linkage model parameters to create an overall system for blindfolded record linkage. Results The system described offers good protection against misdeeds or security failures by any one party, but remains vulnerable to collusion between or simultaneous compromise of two or more parties involved in the linkage operation. In order to reduce the likelihood of this, the use of last-minute allocation of tasks to substitutable servers is proposed. Proof-of-concept computer programmes written in the Python programming language are provided to illustrate the similarity comparison protocol. Conclusion Although the protocols described in this paper are not

  9. Health Screening

    MedlinePlus

    Screenings are tests that look for diseases before you have symptoms. Screening tests can find diseases early, when they're easier ... Overweight and obesity Prostate cancer in men Which tests you need depends on your age, your sex, ...

  10. Depression Screening

    MedlinePlus

    ... Centers Diseases + Condition Centers Mental Health Medical Library Depression Screening (PHQ-9) - Instructions The following questions are ... this tool, there is also text-only version . Depression Screening - Manual Instructions The following questions are a ...

  11. Posterior probability of linkage analysis of autism dataset identifies linkage to chromosome 16

    PubMed Central

    Wassink, Thomas H.; Vieland, Veronica J.; Sheffield, Val C.; Bartlett, Christopher W.; Goedken, Rhinda; Childress, Deborah; Piven, Joseph

    2015-01-01

    Objective To apply phenotypic and statistical methods designed to account for heterogeneity to linkage analyses of the autism Collaborative Linkage Study of Autism (CLSA) affected sibling pair families. Method The CLSA contains two sets of 57 families each; Set 1 has been analyzed previously, whereas this study presents the first analyses of Set 2. The two sets were analyzed independently, and were further split based on the degree of phrase speech delay in the siblings. Linkage analysis was carried out using the posterior probability of linkage (PPL), a Bayesian statistic that provides a mathematically rigorous mechanism for combining linkage evidence across multiple samples. Results Two-point PPLs from Set 1 led to the follow-up genotyping of 18 markers around linkage peaks on 1q, 13p, 13q, 16q, and 17q in both sets of families. Multipoint PPLs were then calculated for the entire CLSA sample. These analyses identified four regions with at least modest evidence in support of linkage: 1q at 173 cM, PPL = 0.12; 13p at 21 cM, PPL = 0.16; 16q at 63 cM, PPL= 0.36; Xq at 40 cM, PPL = 0.11. Conclusion We find strengthened evidence for linkage of autism to chromosomes 1q, 13p, 16q, and Xq, and diminished evidence for linkage to 7q and 13q. The verity of these findings will be tested by continuing to update our PPL analyses with data from additional autism datasets. PMID:18349700

  12. Linkage mapping of the Mediterranean cypress, Cupressus sempervirens, based on molecular and morphological markers.

    PubMed

    Manescu, C; Hamamouch, N; Maios, C; Harfouche, A; Doulis, A G; Aravanopoulos, F A

    2011-08-30

    Gene mapping for a Cupressus species is presented for the first time. Two linkage maps for the Mediterranean cypress (Cupressus sempervirens) varieties, C. sempervirens var. horizontalis and C. sempervirens var. pyramidalis, were constructed following the pseudo-testcross mapping strategy and employing RAPD, SCAR and morphological markers. A total of 427 loci (425 RAPDs, two SCARs) representing parents and F(1) progeny were screened for polymorphism with 32 random decamer and two SCAR primers. A morphological marker defined as "crown form" was also included. Of 274 polymorphic loci, the 188 that presented Mendelian inheritance formed the mapping dataset. Of these loci, 30% were mapped into seven linkage groups for the horizontalis (maternal) and four linkage groups for the pyramidalis (paternal) map. The putative "crown form" locus was included in a linkage group of both maps. The horizontalis and the pyramidalis maps covered 160.1 and 144.5 cM, respectively, while genome length was estimated to be 1696 cM for the former variety and 1373 cM for the latter. The four RAPD markers most tightly linked to crown form were cloned and converted to SCARs. Each of the cloned RAPD markers yielded two to three different sequences behaving as co-migrating fragments. Two SCAR markers, SC-D05(432) and SC-D09(667), produced amplified bands of the expected sizes and maintained linkage with the appropriate phenotype, but to a lesser extent compared to their original RAPD counterparts. These linkage maps represent a first step towards the localization of QTLs and genes controlling crown form and other polygenic traits in cypress.

  13. Regional Workshops on CETA/Educational Linkages.

    ERIC Educational Resources Information Center

    McGough, Robert; And Others

    This document presents a summary of the proceedings of five regional workshops in Virginia which focused on planning for future involvement and linkages, as well as giving an orientation to the capabilities and operational philosophies of both Comprehensive Employment and Training Act (CETA) programs and educational organizations. Following…

  14. Past CETA Linkages: Models for the Future.

    ERIC Educational Resources Information Center

    Lapin, Joel D.

    1982-01-01

    Examines lessons learned from successful linkages between community colleges and Comprehensive Employment and Training Act (CETA) sponsors as the basis for future occupational training and employment programs. Reviews research examining CETA funding patterns in California and exemplary arrangements between community colleges and CETA nationwide.…

  15. Composite Bloom Filters for Secure Record Linkage.

    PubMed

    Durham, Elizabeth Ashley; Kantarcioglu, Murat; Xue, Yuan; Toth, Csaba; Kuzu, Mehmet; Malin, Bradley

    2014-12-01

    The process of record linkage seeks to integrate instances that correspond to the same entity. Record linkage has traditionally been performed through the comparison of identifying field values (e.g., Surname), however, when databases are maintained by disparate organizations, the disclosure of such information can breach the privacy of the corresponding individuals. Various private record linkage (PRL) methods have been developed to obscure such identifiers, but they vary widely in their ability to balance competing goals of accuracy, efficiency and security. The tokenization and hashing of field values into Bloom filters (BF) enables greater linkage accuracy and efficiency than other PRL methods, but the encodings may be compromised through frequency-based cryptanalysis. Our objective is to adapt a BF encoding technique to mitigate such attacks with minimal sacrifices in accuracy and efficiency. To accomplish these goals, we introduce a statistically-informed method to generate BF encodings that integrate bits from multiple fields, the frequencies of which are provably associated with a minimum number of fields. Our method enables a user-specified tradeoff between security and accuracy. We compare our encoding method with other techniques using a public dataset of voter registration records and demonstrate that the increases in security come with only minor losses to accuracy.

  16. ARE COASTAL WETLAND-LAKE LINKAGES IMPORTANT?

    EPA Science Inventory

    Because coastal werlands typically comprise only a small percentage of the overall surface area in large lakes, an assumption has often been made that functional links between wetlands and the lake proper are of little significance. Recent investigations of functional linkages be...

  17. Linkage Drag: Implication for Plant Breeding

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Linkage drag is commonly observed in plant breeding, yet the molecular mechanisms controlling this is unclear. The Pi-ta gene, a single copy gene near the centromere region of chromosome 12, confers resistance to races of Magnaporthe oryzae that contain AVR-Pita. The Pi-ta gene in Tetep has been su...

  18. The Iowa Record-Linkage Experience.

    ERIC Educational Resources Information Center

    Black, Donald W.

    1989-01-01

    Conducted Iowa Record-Linkage Study, reviewing records of psychiatric inpatients to 1 hospital in 10-year period and linking information with all Iowa death certificates for same period, resulting in identification of 331 deaths. Data analysis revealed that relative risk for premature death was greatest among women and the young. (NB)

  19. Dialogic Linkage and Resonance in Autism

    ERIC Educational Resources Information Center

    Hobson, R. Peter; Hobson, Jessica A.; Garcia-Perez, Rosa; Du Bois, John

    2012-01-01

    We evaluated how children with autism make linguistic adjustments when talking with someone else. We devised two novel measures to assess (a) overall conversational linkage and (b) utterance-by-utterance resonance within dialogue between an adult and matched participants with and without autism (n = 12 per group). Participants with autism were…

  20. Developing Industry Linkages: Learning from Practice.

    ERIC Educational Resources Information Center

    Misko, Josie

    Linkages between Australia's vocational education and training (VET) and technical and further education (TAFE) sectors and industry were examined through 13 case studies involving a variety of industrial sectors in South Australia, New South Wales, and Victoria. Special attention was paid to the processes established by school clusters to develop…

  1. Permethylation Linkage Analysis Techniques for Residual Carbohydrates

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Permethylation analysis is the classic approach to establishing the position of glycosidic linkages between sugar residues. Typically, the carbohydrate is derivatized to form acid-stable methyl ethers, hydrolyzed, peracetylated, and analyzed by gas chromatography-mass spectrometry (GC-MS). The pos...

  2. Automated linkage analysis in psychiatric disorders

    SciTech Connect

    He, L.; Mansfield, D.C.; Brown, A.F.; Green, D.K.

    1995-06-19

    A genome-wide search for linkage of microsatellite markers to chromosomal loci containing genes responsible for the major psychoses is a laborious task which can be carried out with greater speed and economy by introducing automation to several steps in the procedure. We describe the use of the Automated Linkage Preprocessor (ALP) program for the computer analysis of the waveform generated by fluorescein-labelled markers after electrophoretic separation. (To obtain a copy send a request to A.F. Brown at the below MRC address or use Anonymous FTP to ftp.hgu.mrc.ac.uk. Software is in directory pub/ALP.) The program runs on a PC in the Microsoft Windows environment, and is used in conjunction with an automated laser fluorescence (ALF) sequencer (Pharmacia) and its Fragment Manager{trademark} software to detect and size the PCR products, filter out peaks of fluorescence due to nonallele fragments, and generate genotypes in a format suitable for direct input to standard linkage analysis programs. The method should offer the advantages of speed, accuracy, and reduced cost. Its use in linkage studies in a large family with manic-depressive illness is discussed. 14 refs., 3 figs., 1 tab.

  3. Alocomotino Control Algorithm for Robotic Linkage Systems

    SciTech Connect

    Dohner, Jeffrey L.

    2016-10-01

    This dissertation describes the development of a control algorithm that transitions a robotic linkage system between stabilized states producing responsive locomotion. The developed algorithm is demonstrated using a simple robotic construction consisting of a few links with actuation and sensing at each joint. Numerical and experimental validation is presented.

  4. Whole genome linkage disequilibrium maps in cattle

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Bovine whole genome linkage disequilibrium maps were constructed for eight breeds of cattle. These data provide fundamental information concerning bovine genome organization which will allow the design of studies to associate genetic variation with economically important traits and also provides bac...

  5. Impact of Dehydroepiandrosterone Sulfate on Newborn Leukocyte Telomere Length

    PubMed Central

    Liu, Han; Zhou, Guangdi; Chen, Qian; Ouyang, Fengxiu; Little, Julian; Zhang, Jun; Chen, Dan

    2017-01-01

    The newborn setting of leukocyte telomere length (LTL) likely has important implications for telomere dynamics over the lifespan. However, its determinants are poorly understood. Hormones play an important role during pregnancy and delivery. We hypothesized that exposure to hormones may impact the fetal telomere biology system. To test this hypothesis, cortisol, estradiol, dehydroepiandrosterone sulfate (DHEAS) and reactive oxygen species (ROS) were measured in cord blood of 821 newborns from a prospective study. After accounting for the effects of potential determinants of newborn LTL, a 10-fold increase in DHEAS concentration was associated with a 0.021 increase in T/S ratio of newborn LTL (95% confidence interval: 0.009–0.034, P = 0.0008). For newborns who fell in the lowest quartile of DHEAS level, the mean newborn LTL was estimated to be approximately 2.0% shorter than the newborns in the highest DHEAS concentration quartile (P = 0.0014). However, no association was found between newborn LTL and cortisol or estradiol. As expected, newborns with higher ROS level (ROS > 260 mol/L) had lower LTL compared to that with lower ROS level (ROS ≤ 260 mol/L) (P = 0.007). There was also an inverse relationship between DHEAS and ROS (P < 1×10−4). Our findings suggest that exposure to DHEAS may exert a “programming” effect on the newborn telomere biology system. PMID:28186106

  6. Assessing effects of serotonin precursors on newborn behavior.

    PubMed

    Yogman, M W; Zeisel, S H; Roberts, C

    While traditional studies of newborn diet have focused on the effects of malnutrition on the central nervous system, there is now interest in how qualitative differences in the composition of early newborn feeding might influence behavior. This paper reviews the available techniques for assessing newborn perception and cognition, as well as behavioral organization. The paper then focuses intensively on measures of newborn state behaviour in view of evidence in adult humans, as well as in non-human species, suggesting a relationship between sleep behavior (sleep onset, night waking) and brain serotonin levels. A study designed to examine the relationship between dietary precursors of brain serotonin (within the range of concentrations found in human milk) and newborn state behavior after feeding is described to illustrate the application of these techniques. Healthy, fullterm newborns were fed a modified formula, containing tryptophan or valine, on one day, a routine formula on another day, and observed continuously for 3 h after each feeding for the observation and recording of newborn state. Data from individual infants in the tryptophan and valine groups are presented to illustrate the findings that infants fed tryptophan entered quiet sleep and active sleep sooner than infants fed valine and spent more time in active sleep and less time alert. These results illustrate the value of newborn behavior as a sensitive dependent variable in studies of behavioral effects of diet and suggests that variations in serotonin levels in the newborn brain may modulate the newborn's sleep/wake behaviour.

  7. [Newborn children under phototherapy: the mother's perception].

    PubMed

    Campos, Antonia do Carmo Soares; Cardoso, Maria Vera Lúcia Moreira Leitão

    2004-01-01

    Since 1958, phototherapy has been used as a method to cure jaundice, which is still an important disease in newborn children. Supported by a phenomenological and qualitative approach, this study aims to investigate the mothers' perception of the phototherapy treatment their children are submitted to. Research subjects were ten mothers of newborns under phototherapy treatment at the Neonatological Hospitalization Unit of a public maternity in Fortaleza-CE, Brazil. Data were collected between May and July 2002. We used group meetings with the mothers as suggested by Carl Rogers. Discourse was organized into categories according to Bardin, which revealed themes that were analyzed in view of Paterson's and Zderad's humanistic nursing theory, as follows: mothers' knowledge on phototherapy and concerns about the treatment. We concluded that the analyzed mothers' major concern is related to the babies' vision.

  8. Hospital stay for healthy term newborns.

    PubMed

    2010-02-01

    The hospital stay of the mother and her healthy term newborn infant should be long enough to allow identification of early problems and to ensure that the family is able and prepared to care for the infant at home. The length of stay should also accommodate the unique characteristics of each mother-infant dyad, including the health of the mother, the health and stability of the infant, the ability and confidence of the mother to care for her infant, the adequacy of support systems at home, and access to appropriate follow-up care. Input from the mother and her obstetrician should be considered before a decision to discharge a newborn is made, and all efforts should be made to keep mothers and infants together to promote simultaneous discharge.

  9. Pain assessment scales in newborns: integrative review

    PubMed Central

    de Melo, Gleicia Martins; Lélis, Ana Luíza Paula de Aguiar; de Moura, Alline Falconieri; Cardoso, Maria Vera Lúcia Moreira Leitão; da Silva, Viviane Martins

    2014-01-01

    OBJECTIVE: To analyze studies on methods used to assess pain in newborns. DATA SOURCES: Integrative review study of articles published from 2001 to 2012, carried out in the following databases: Scopus, PubMed, CINAHL, LILACS and Cochrane. The sample consisted of 13 articles with level of evidence 5. DATA SYNTHESIS: 29 pain assessment scales in newborns, including 13 one-dimensional and 16 multidimensional, that assess acute and prolonged pain in preterm and full-term infants were available in scientific publications. CONCLUSION: Based on the characteristics of scales, one cannot choose a single one as the most appropriate scale, as this choice will depend on gestational age, type of painful stimulus and the environment in which the infant is inserted. It is suggested the use of multidimensional or one-dimensional scales; however, they must be reliable and validated. PMID:25511005

  10. [Congenital pulmonary capillary hemangiomatosis in a newborn].

    PubMed

    Sposito Cavallo, Sandra L; Macias Sobrino, Luciano A; Marenco Altamar, Luifer J; Mejía Alquichire, Andrés F

    2017-02-01

    Pulmonary capillary hemangiomatosis is a rare entity characterized by the proliferation of capillaries into alveolar walls, interlobular septa, pleura and pulmonary interstitium, without malignant characteristics, with almost constant association with pulmonary hypertension. Until now two cases of congenital presentation have been reported in the literature. This is the third case in a newborn; he has not followed the usual pattern associated with pulmonary hypertension as occurs in most patients with this pathology; the highest incidence is among 20-40 years old. We report a preterm newborn patient of 36 weeks of gestation with progressive respiratory distress requiring mechanical ventilation by constant desaturation during his clinical evolution without clinical, radiological or ultrasonographic signs of pulmonary hypertension.

  11. Hepatic subcapsular haematoma in a premature newborn.

    PubMed

    Gonçalves, Cristina; Aguilar, Sara; Prior, Ana Rita; Oliveira, Graça

    2013-06-03

    Subcapsular haematoma of the liver rarely occurs in neonates and the diagnosis is often missed or delayed. It is a catastrophic condition that can be caused by maternal, placentar or fetal factors. A high index of suspicion is essential for early identification and stabilisation of babies with such a pathology. In a newborn with hypovolemic shock and abdominal distension, haemoperitoneum should be suspected and, along with exclusion of other aetiologies, supportive therapy should be instituted. The hepatic subcapsular haematoma has a non-specific presentation, and should be considered in very low birth weight infants with hypovolemic shock. Abdominal ultrasonography is the investigation of choice. It can delineate the lesion well, differentiate it from neoplasms, rule out rupture and aid in serial follow-up. We report a premature newborn who had this uncommon condition in the early neonatal period and survived without sequelae.

  12. Three Degree of Freedom Parallel Mechanical Linkage

    NASA Technical Reports Server (NTRS)

    Adelstein, Bernard D. (Inventor)

    1998-01-01

    A three degree of freedom parallel mechanism or linkage that couples three degree of freedom translational displacements at an endpoint, such as a handle, a hand grip, or a robot tool, to link rotations about three axes that are fixed with respect to a common base or ground link. The mechanism includes a three degree of freedom spherical linkage formed of two closed loops, and a planar linkage connected to the endpoint. The closed loops are rotatably interconnected, and made of eight rigid links connected by a plurality of single degree of freedom revolute joints. Three of these revolute joints are base joints and are connected to a common ground. such that the axis lines passing through the revolute joints intersect at a common fixed center point K forming the center of a spherical work volume in which the endpoint is capable of moving. 'Me three degrees of freedom correspond to the spatial displacement of the endpoint, for instance. The mechanism provides a new overall spatial kinematic linkage composed of a minimal number of rigid links and rotary joints. The mechanism has improved mechanical stiffness, and conveys mechanical power bidirectionally between the human operator and the electromechanical actuators. It does not require gears, belts. cable, screw or other types of transmission elements, and is useful in applications requiring full backdrivability. Thus, this invention can serve as the mechanical linkage for actively powered devices such as compliant robotic manipulators and force-reflecting hand controllers, and passive devices such as manual input devices for computers and other systems.

  13. [Neonatal screening of severe combined immunodeficiencies].

    PubMed

    Thomas, C; Mirallié, S; Pierres, C; Dert, C; Clément, M-C; Mahlaoui, N; Durand-Zaleski, I; Fischer, A; Audrain, M

    2015-06-01

    Severe combined immunodeficiencies (SCID) are a group of inherited diseases of the immune system characterized by profound abnormalities of T-cell development. Infants with SCID require prompt clinical intervention to prevent life-threatening infection and studies show significantly improved survival in babies diagnosed at birth based on previous family history. SCID follows the criteria for population-based newborn screening because it is asymptomatic at birth and fatal within the 1st year of life if there is no intervention, the confirmation of the disease is easy, there is a curative treatment, and it is known that early hematopoietic stem cell transplantation significantly improves survival, the quality of immune reconstitution, and quality of life. Quantification of T-cell receptor excision circles (TRECs) in DNA extracted from Guthrie samples is a sensitive and specific screening test for SCID. We conducted a nationwide prospective study of neonatal screening of SCID in a population of 200,000 French newborns over a period of 2 years. The objective was to study the clinical utility and the cost-effectiveness ratio, and to demonstrate that universal SCID screening could result in a substantial benefit to detect individuals, making screening relatively cost-effective in spite of the low incidence of the disease.

  14. Double screening

    SciTech Connect

    Gratia, Pierre; Hu, Wayne; Joyce, Austin; Ribeiro, Raquel H.

    2016-06-15

    Attempts to modify gravity in the infrared typically require a screening mechanism to ensure consistency with local tests of gravity. These screening mechanisms fit into three broad classes; we investigate theories which are capable of exhibiting more than one type of screening. Specifically, we focus on a simple model which exhibits both Vainshtein and kinetic screening. We point out that due to the two characteristic length scales in the problem, the type of screening that dominates depends on the mass of the sourcing object, allowing for different phenomenology at different scales. We consider embedding this double screening phenomenology in a broader cosmological scenario and show that the simplest examples that exhibit double screening are radiatively stable.

  15. Estimated Number of Infants Detected and Missed by Critical Congenital Heart Defect Screening

    PubMed Central

    Ailes, Elizabeth C.; Gilboa, Suzanne M.; Honein, Margaret A.; Oster, Matthew E.

    2015-01-01

    Background and objectives In 2011, the U.S. Secretary of Health and Human Services recommended universal screening of newborns for critical congenital heart defects (CCHD), yet few estimates of the number of infants with CCHD likely to be detected through universal screening exist. Our objective was to estimate the number of infants with nonsyndromic CCHD in the United States likely to be detected (true positives) and missed (false negatives) through newborn CCHD screening. Methods We developed a simulation model based on estimates of birth prevalence, prenatal diagnosis, late detection, and sensitivity of newborn CCHD screening through pulse oximetry to estimate the number of true positive and false negative nonsyndromic cases of the seven primary and five secondary targets of CCHD screening identified through screening. Results We estimated that 875 (95% uncertainty interval [UI]: 705–1,060) U.S. infants with nonsyndromic CCHD, including 470 (95% UI: 360–585) among primary CCHD screening targets, will be detected annually through CCHD newborn screening. An additional 880 (UI: 700–1,080) false negative screenings, including 280 (95% UI: 195–385) among primary screening targets, are expected. We estimated that similar numbers of CCHD (within ~1 case/10,000 live births) would be detected under scenarios comparing “lower” (~19%) and “higher” (~42%) than current prenatal detection prevalences. Conclusions A substantial number of nonsyndromic CCHD cases are likely to be detected through universal CCHD screening; however, an equal number of false negative screenings, primarily among secondary targets of screening, are likely to occur. Future efforts should document the true impact of CCHD screening in practice. PMID:25963011

  16. Instantaneous frequency based newborn EEG seizure characterisation

    NASA Astrophysics Data System (ADS)

    Mesbah, Mostefa; O'Toole, John M.; Colditz, Paul B.; Boashash, Boualem

    2012-12-01

    The electroencephalogram (EEG), used to noninvasively monitor brain activity, remains the most reliable tool in the diagnosis of neonatal seizures. Due to their nonstationary and multi-component nature, newborn EEG seizures are better represented in the joint time-frequency domain than in either the time domain or the frequency domain. Characterising newborn EEG seizure nonstationarities helps to better understand their time-varying nature and, therefore, allow developing efficient signal processing methods for both modelling and seizure detection and classification. In this article, we used the instantaneous frequency (IF) extracted from a time-frequency distribution to characterise newborn EEG seizures. We fitted four frequency modulated (FM) models to the extracted IFs, namely a linear FM, a piecewise-linear FM, a sinusoidal FM, and a hyperbolic FM. Using a database of 30-s EEG seizure epochs acquired from 35 newborns, we were able to show that, depending on EEG channel, the sinusoidal and piecewise-linear FM models best fitted 80-98% of seizure epochs. To further characterise the EEG seizures, we calculated the mean frequency and frequency span of the extracted IFs. We showed that in the majority of the cases (>95%), the mean frequency resides in the 0.6-3 Hz band with a frequency span of 0.2-1 Hz. In terms of the frequency of occurrence of the four seizure models, the statistical analysis showed that there is no significant difference( p = 0.332) between the two hemispheres. The results also indicate that there is no significant differences between the two hemispheres in terms of the mean frequency ( p = 0.186) and the frequency span ( p = 0.302).

  17. Immunoglobulin levels in SFD newborn babies.

    PubMed

    Kobielowa, Z; Miecznikowska, M; Kubiczek, K; Michalik, R

    1975-01-01

    The IgG, IgA and IgM levels were determined by the technique of radial immunodiffusion of Mancini et al. in 40 SFD and 30 normal control newborn infants. The mean value of IgG concentrations was found to be raised but without statistical significance when compared with control. On the contrary the increased mean amounts of IgM were statistically significant.

  18. Spontaneous Splenic Hemorrhage in the Newborn

    PubMed Central

    Tiboni, Sonia; Abdulmajid, Umar; Pooboni, Suneel; Wighton, Christopher; Eradi, Balgopal; Dagash, Haitham

    2015-01-01

    Spontaneous splenic hemorrhage in the newborn is a rare entity. The presentation is usually with a triad of bleeding, abdominal distension, and hemoperitoneum. Rapid diagnosis is essential as left untreated, death is inevitable. We present a case with an unusual initial presentation of a scrotal hematocele and ultrasonography suggesting an adrenal hemorrhage. At laparotomy, splenic preservation was unsuccessful, and therefore, splenectomy was performed. The child recovered well from the procedure. PMID:26788451

  19. [To reduce the pain of heel prick in the newborn: comparison of six types of lancets].

    PubMed

    Ballardini, G; Spruzzola, A; Boneschi, L; Visentin, R; Boscardini, L; Barbaglia, M; Guala, L A

    2012-01-01

    Heel prick is an usual method performed to get a blood sample for newborn screening. Its wide use justifies the effort in reducing the pain as much as possible and some simple steps, including the use of spring heelsticks, are recommended by national and international guide-lines. But not all the heelsticks cause the same pain and allow to get enough blood for the screening. The aim of this work was to test six automatic heelstick devices with regard to the pain in heel prick measured with NIPS scale and, at the same time, to value their effectiveness in getting a blood sample suitable for filter paper for newborn screening. The following devices were assessed: Amnes Minilet Lancets, Wuxi Xinda Ltd, Exxe Safe Blade, Lifescan Stik Johnson & Johnson, One Touch Ultra Soft, Accu-Chek Safe T Pro Plus. The device Exxe Safe Blade statistically differs from all others: it is the least painful and it doesn't need any prick repetition.

  20. Highly Significant Linkage to the SLI1 Locus in an Expanded Sample of Individuals Affected by Specific Language Impairment

    PubMed Central

    2004-01-01

    Specific language impairment (SLI) is defined as an unexplained failure to acquire normal language skills despite adequate intelligence and opportunity. We have reported elsewhere a full-genome scan in 98 nuclear families affected by this disorder, with the use of three quantitative traits of language ability (the expressive and receptive tests of the Clinical Evaluation of Language Fundamentals and a test of nonsense word repetition). This screen implicated two quantitative trait loci, one on chromosome 16q (SLI1) and a second on chromosome 19q (SLI2). However, a second independent genome screen performed by another group, with the use of parametric linkage analyses in extended pedigrees, found little evidence for the involvement of either of these regions in SLI. To investigate these loci further, we have collected a second sample, consisting of 86 families (367 individuals, 174 independent sib pairs), all with probands whose language skills are ⩾1.5 SD below the mean for their age. Haseman-Elston linkage analysis resulted in a maximum LOD score (MLS) of 2.84 on chromosome 16 and an MLS of 2.31 on chromosome 19, both of which represent significant linkage at the 2% level. Amalgamation of the wave 2 sample with the cohort used for the genome screen generated a total of 184 families (840 individuals, 393 independent sib pairs). Analysis of linkage within this pooled group strengthened the evidence for linkage at SLI1 and yielded a highly significant LOD score (MLS = 7.46, interval empirical P<.0004). Furthermore, linkage at the same locus was also demonstrated to three reading-related measures (basic reading [MLS = 1.49], spelling [MLS = 2.67], and reading comprehension [MLS = 1.99] subtests of the Wechsler Objectives Reading Dimensions). PMID:15133743