Relevant bibliographies by topics / Newborn screening

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Newborn screening'

Author: Grafiati
Published: 4 June 2021
Last updated: 25 July 2025

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Journal articles on the topic "Newborn screening"

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Kayton, Allyson. "Newborn Screening: A Literature Review." Neonatal Network 26, no. 2 (2007): 85–95. http://dx.doi.org/10.1891/0730-0832.26.2.85.

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Newborn screening is the largest genetic testing effort for newborns in the U.S. Its purpose is to identify newborns who are at risk for metabolic, endocrine, or hematologic disorders. A review of the literature was conducted to determine the benefits of newborn screening; specimen collection timing and handling; ethical considerations of screening; as well as current practices regarding consent, notification of results, and follow-up procedures. The use of tandem mass spectrometry for expanded newborn screening and postmortem diagnosis of unexplained infant death was also reviewed. This artic
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Wang, Yuanming, Chen Cheng, and Chuling Li. "Newborn hearing loss in the south of China: a cross-sectional study." Journal of International Medical Research 49, no. 12 (2021): 030006052110624. http://dx.doi.org/10.1177/03000605211062448.

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Objective Newborn hearing screening can identify congenital deafness and hearing loss. The current status of newborn hearing screening in the south of China is unclear. We aimed to assess the hearing loss of newborns in Dongguan, China. Methods A total of 62,545 newborns were enrolled in this retrospective, cross-sectional study between September 2015 and August 2020. The screening procedure was carried out using a two-step hearing screening. The trends were examined by the Cochran–Armitage trend test. Results From 2015 to 2020, the total initial newborn hearing screening rate was 98.16%, and
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Matteson, Jamie, Stanley Sciortino, Lisa Feuchtbaum, Tracey Bishop, Richard S. Olney, and Hao Tang. "Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up." International Journal of Neonatal Screening 7, no. 2 (2021): 22. http://dx.doi.org/10.3390/ijns7020022.

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X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder. We provide California’s experience with ALD newborn screening, highlighting the clinical and epidemiological outcomes observed as well as program implementation challenges. In this retrospective cohort study, we examine ALD newborn screening results and clinical outcomes for 1,854,631 newborns whose specimens were received by the California Genetic Disease Screening Program from 16 February 2016 through 15 February 2020. In the
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Ravindran, Greeshma, Sarah Zahir, Aju Abraham, and Pooja Pushpa Sasidharan. "Awareness of hearing loss in newborns and newborn hearing screening facilities among parturient." Journal of Community Health Management 11, no. 1 (2024): 29–34. http://dx.doi.org/10.18231/j.jchm.2024.007.

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Parental awareness about hearing loss in newborns and newborn hearing screening programs are important for the early identification and intervention in children with hearing loss. Limited studies have explored the awareness of parturient mothers towards newborn hearing loss, newborn hearing screening, its importance and, the facilities for early hearing screening programs available at hospitals and clinics in the Indian scenario.The current study investigated the awareness of parturient about newborn hearing loss, newborn hearing screening facilities and its importance through a self- administ
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Jones, David, Jianyin Shao, Heidi Wallis, et al. "Towards a Newborn Screening Common Data Model: The Utah Newborn Screening Data Model." International Journal of Neonatal Screening 7, no. 4 (2021): 70. http://dx.doi.org/10.3390/ijns7040070.

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As newborn screening programs transition from paper-based data exchange toward automated, electronic methods, significant data exchange challenges must be overcome. This article outlines a data model that maps newborn screening data elements associated with patient demographic information, birthing facilities, laboratories, result reporting, and follow-up care to the LOINC, SNOMED CT, ICD-10-CM, and HL7 healthcare standards. The described framework lays the foundation for the implementation of standardized electronic data exchange across newborn screening programs, leading to greater data inte
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Honzík, Tomáš, Viktor Kožich, Karolína Pešková, and Felix Votava. "Laboratory newborn screening." Česko-slovenská pediatrie 77, no. 1 (2022): 12–18. http://dx.doi.org/10.55095/cspediatrie2022/002.

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Galadanci, Aisha A., Umma A. Ibrahim, Yvonne Carroll, et al. "A Novel Newborn Screening Program for Sickle Cell Disease in Nigeria." International Journal of Neonatal Screening 10, no. 4 (2024): 67. http://dx.doi.org/10.3390/ijns10040067.

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Newborn screening for sickle cell disease (SCD) is sparse in sub-Saharan Africa. The leadership of the Aminu Kano Teaching Hospital (AKTH) in Kano, Nigeria, with the support of local religious authorities, established a groundbreaking SCD newborn screening program that has become the standard of care for pregnant women and their newborns. Our program includes (1) prenatal genetic counseling for all pregnant women in the antenatal clinic, (2) newborn screening, (3) postnatal genetic counseling for parents of newborns diagnosed with SCD and SCT, and (4) referral of newborns with SCD for follow-u
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Chiang, Shu-Chuan, Pin-Wen Chen, Wuh-Liang Hwu, et al. "Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease." International Journal of Neonatal Screening 4, no. 4 (2018): 41. http://dx.doi.org/10.3390/ijns4040041.

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Early diagnosis of lysosomal storage diseases (LSDs) through newborn screening (NBS) has been adapted widely. The National Taiwan University Hospital Newborn Screening Center launched the four-plex tandem mass spectrometry LSD newborn screening test in 2015. The test determined activities of acid α-glucosidase (GAA; Pompe), acid α-galactosidase (GLA; Fabry), acid β-glucocerebrosidase (ABG; Gaucher), and acid α-l-iduronidase (IDUA; MPS-I) in dried blood spots (DBS). Through 2017, 64,148 newborns were screened for these four LSDs. The screening algorithm includes enzyme activity/ratio as the cut
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Yusuf, Careema, Marci K. Sontag, Joshua Miller, et al. "Development of National Newborn Screening Quality Indicators in the United States." International Journal of Neonatal Screening 5, no. 3 (2019): 34. http://dx.doi.org/10.3390/ijns5030034.

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Newborn screening is a public health program facilitated by state public health departments with the goal of improving the health of affected newborns throughout the country. Experts in the newborn screening community established a panel of eight quality indicators (QIs) to track quality practices within and across the United States newborn screening system. The indicators were developed following iterative refinement, consensus building, and evaluation. The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) implemented a national data repository in 2013 that captures the
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MK, Vybhavi, and Srinivas V. "Hearing Screening of Newborns using Distortion Product Otoacoustic Emissions." Bengal Journal of Otolaryngology and Head Neck Surgery 29, no. 2 (2021): 189–95. http://dx.doi.org/10.47210/bjohns.2021.v29i2.478.

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Introduction The present study was devised to estimate the prevalence of neonatal hearing loss and document the importance of using DPOAE as a screening tool for identifying hearing loss in newborns. Materials and Methods This hospital based descriptive study was conducted from August 2018 to August 2019. A total of 928 newborn babies were included in the study. These newborn babies were subjected to hearing screening by distortion product otoacoustic emissions (DPOAE) at 24-72 hrs after birth. For pass cases, no further testing was done. For refer cases, repeat testing with DPOAE was done wit
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Dissertations / Theses on the topic "Newborn screening"

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Araia, Makda. "Newborn Screening Education: A Survey of Ontario Mothers." Thesis, Université d'Ottawa / University of Ottawa, 2011. http://hdl.handle.net/10393/20333.

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Purpose and methods: Effective parental education about newborn screening (NBS) may help to maximize the benefits and minimize the harms of screening. We investigated experiences, knowledge and opinions regarding NBS education among Ontario mothers. Mothers whose infants recently received NBS were invited to complete a mailed survey (n=1712). Results: Of the 750 participants, 93% recalled their infant receiving NBS, while 69% recalled receiving information about NBS. Of this group, fewer than 50% reported receiving information prenatally, yet a majority of mothers (64%) viewed this as the most
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Rahman, Alvi. "Estimating Screening Results Following the Introduction of Next-generation Sequencing Into Newborn Screening." Thesis, Université d'Ottawa / University of Ottawa, 2017. http://hdl.handle.net/10393/36988.

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Objective: The objective of this thesis was to estimate the impact on newborn screening (NBS) results of changing screening technology from tandem mass spectrometry (MS/MS) to an approach using targeted next-generation sequencing (T-NGS) and MS/MS in parallel. Methods: We integrated results of an analysis of MS/MS screening data for phenylketonuria (PKU) and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency; and a query of genetic compendia for variants of genes associated with the two disorders. Results: The introduction of T-NGS into NBS may reduce nearly 80% of false positives that a
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Buser, Karen N. Kamiri. "Parental Attitudes Regarding Newborn Screening for Duchenne Muscular Dystrophy." Case Western Reserve University School of Graduate Studies / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=case1307627473.

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Ossler, Sarah. "Attitudes and Beliefs toward Expanded Newborn Screening in Colombia." University of Cincinnati / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1399629916.

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Lai, Yoke Fei. "Comparison of screening protocols for congenital adrenal hyperplasia (CAH) in the New South Wales Newborn Screening Programme." Thesis, The University of Sydney, 2022. https://hdl.handle.net/2123/29574.

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Congenital adrenal hyperplasia (CAH) is a group of disorders with autosomal recessive inheritance and an incidence approximately 1:14 000 to 1:18 000 worldwide. The NSW Newborn Screening Programme currently screens all newborns born in NSW and the ACT for salt-wasting CAH by measuring 17α-hydroxyprogesterone (17αOHP) level using immunoassay, followed by a second-tier liquid chromatography tandem mass spectrometry (LC-MS/MS) steroid profile. Any newborn with a calculated ratio of (17α-hydroxyprogesterone (MS17αOHP)+androstenedione(A4))/cortisol>2 or MS17αOHP concentration>200nmol/L is deemed sc
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Турова, Людмила Олександрівна, Людмила Александровна Турова, Liudmyla Oleksandrivna Turova, V. Petroshenko, and W. A. Alsaedi. "Modern Methods of neonatal screening." Thesis, Сумський державний університет, 2013. http://essuir.sumdu.edu.ua/handle/123456789/32305.

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Neonatal screening is a program, which aims at early identification of conditions for which early and timely intervention can prevent or reduce associated mortality and morbidity. The most modern screening technology is the tandem mass spectrometry (tandem MS; MS/MS). MS/MS-newborn screening requires confirmatory testing and clinical evaluation before a diagnosis can be made. When you are citing the document, use the following link http://essuir.sumdu.edu.ua/handle/123456789/32305
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Daniels, Molly Serena. "PARENTS' KNOWLEDGE OF AND EXPERIENCES WITH THE OHIO NEWBORN SCREENING." University of Cincinnati / OhioLINK, 2002. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1029504389.

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Zuckerman, Shlomit. "The Expansion of Newborn Screening In Israel: Ethical and Social Dimensions." Cleveland, Ohio : Case Western Reserve University, 2009. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=case1247156923.

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Frei, Julia. "The provision of newborn screening: A conjoint analysis of women's preferences." Thesis, University of Ottawa (Canada), 2007. http://hdl.handle.net/10393/27843.

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Context. There has been increasing attention concerning the use of DNA-based genetic tests in health care. Many have argued that the use of genetic technologies should be subject to public debate and scrutiny. However, few in the general population can offer views informed by actual experience with genetic services. Prenatal and newborn screening programs are examples of genetic services that are routinely offered to the general population. Objectives. To determine if conjoint analysis is a useful tool for eliciting user preferences for newborn screening services. Methods. Discrete choice conj
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Spady, Donald William. "Who gets missed, coverage in the 1992 Alberta newborn screening program." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp04/mq21208.pdf.

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Books on the topic "Newborn screening"

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Early Hearing Detection and Intervention Program (Or.)., ed. Newborn hearing screening. Early Hearing Loss Detection & Intervention Program, Oregon Dept. of Human Services, Office of Family Health, 2002.

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G, Spivak Lynn, ed. Universal newborn hearing screening. Thieme, 1998.

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J, Driscoll Carlie, and McPherson Bradley, eds. Newborn screening systems: The complete perspective. Plural Pub., 2010.

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E, Fornoff J., Illinois. Division of Epidemiologic Studies., and Centers for Disease Control and Prevention (U.S.), eds. Newborn metabolic screening in Illinois, 2005. Ill.], 2007.

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T, Swigart Elca, ed. Neonatal hearing screening. Taylor & Francis, 1985.

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Division, Alberta Public Health. Newborn metabolic screening in Alberta 2002-2005. Public Health Division, Alberta Health and Wellness, 2006.

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Texas. Bureau of Children's Health. and Texas Bureau of Laboratories, eds. Texas newborn screening program: A practitioner's guide. The Bureau, 1999.

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Office, General Accounting. Newborn screening: Characteristics of state programs : report to congressional requesters. United States General Accounting Office, 2003.

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Bhatt, Suchetta. Expanded newborn screening possibilities: February 5, 2002 lecture. Senate Publications, 2002.

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1952-, Andrews Lori B., American Bar Foundation, United States. Bureau of Health Care Delivery and Assistance. Division of Maternal and Child Health., and Conference on Legal Liabilities in Newborn Screening (1984 : Chicago, Ill.), eds. Legal liability and quality assurance in newborn screening. American Bar Foundation, 1985.

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Book chapters on the topic "Newborn screening"

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DeTolve, Geoffrey R. "Newborn Screening." In Health Care for People with Intellectual and Developmental Disabilities across the Lifespan. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-18096-0_55.

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Dyson, Simon. "Newborn screening." In Sickle Cell and the Social Sciences. Routledge, 2019. http://dx.doi.org/10.4324/9781315098685-10.

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Yenidunya, Mustafa Kemal. "Developmental Dysplasia of the Hip." In Newborn and Childhood Screening Programmes. Nobel Tip Kitabevleri, 2024. http://dx.doi.org/10.69860/nobel.9786053358961.8.

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With the increase in population and the decrease in infant mortality rates in the world and in Turkey, the problems seen in newborn babies cause more issues in their youth and adulthood. There are blood tests and screenings to detect these problems early on. However, for Developmental Dysplasia of the Hip (DDH), which is frequently seen in newborns, there is unfortunately no objective parameter that can diagnose the condition early. Diagnosing DDH requires an experienced radiologist and orthopedist, as well as a well-functioning health screening system. Thus, its diagnosis is relatively diffic
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Bilici, Taylan, Nuray Bayar Muluk, and Yusuf Dundar. "Newborn Hearing Screening." In Breastfeeding and Metabolic Programming. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-33278-4_46.

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Karamert, Recep, Ayla Günlemez, and Stephan Lang. "Newborn Hearing Screening." In Hearing Loss in Congenital, Neonatal and Childhood Infections. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-38495-0_2.

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Kemaloğlu, Yusuf K. "Newborn Hearing Screening." In Comprehensive ENT. Springer Nature Switzerland, 2024. https://doi.org/10.1007/978-3-031-76173-7_39.

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Surucu Kara, Ilknur, and Zerrin Orbak. "Screening Tests Performed in the Newborn Period in Our Country for Congenital Endocrine and Metabolic Diseases: Definition and Their Importance." In Newborn and Childhood Screening Programmes. Nobel Tip Kitabevleri, 2024. http://dx.doi.org/10.69860/nobel.9786053358961.1.

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Genetic, metabolic and endocrinological diseases are the most important causes of malformations and deaths in the first months of life. The incidence of hereditary endocrinological and metabolic diseases is higher in our country and in countries like ours where consanguineous marriages are common. Early or presymptomatic detection of treatable rare diseases and early initiation of treatment significantly reduce morbidity and mortality and improve quality of life and prognosis. In many countries, metabolic and endocrinological diseases such as phenylketonuria, biotinidase enzyme deficiency, gal
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Aras, Turgay. "Dyslipidemia Screening." In Newborn and Childhood Screening Programmes. Nobel Tip Kitabevleri, 2024. http://dx.doi.org/10.69860/nobel.9786053358961.13.

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Dyslipidemia is lipoprotein metabolism disorders characterized by high total cholesterol (TC), LDL-C, non-HDL-C, triglyceride (TG) and low HDL-C.Although lipid and lipoprotein levels vary according to age and gender, acceptable, borderline high and high values ​​have been determined for children.Dyslipidemia can occur for various reasons, such as dietary saturated and trans fats, consumption of refined carbohydrates and sugar, alcohol, medications, endocrine/metabolic/renal problems, infections and genetic factors.The frequency and duration of dyslipidemia screening are planned according to ag
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Frei-Jones, Melissa. "Newborn Screening for Hemoglobinopathies." In Benign Hematologic Disorders in Children. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-49980-8_21.

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Heeney, M. M., and R. E. Ware. "Newborn screening for hemoglobinopathies." In Practical Algorithms in Pediatric Hematology and Oncology. KARGER, 2003. http://dx.doi.org/10.1159/000069583.

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Conference papers on the topic "Newborn screening"

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Lewis-Parmar, Helen, and Jill Walker. "622 Newborn and infant physical examination screening: quality improvement in the English newborn screening pathway." In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference–Online, 15 June 2021–17 June 2021. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2021. http://dx.doi.org/10.1136/archdischild-2021-rcpch.106.

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Gartner, Silvia, Maria J. Alonso, Joan Figuerola, et al. "Newborn screening for cystic fibrosis in Spain." In ERS International Congress 2016 abstracts. European Respiratory Society, 2016. http://dx.doi.org/10.1183/13993003.congress-2016.pa1265.

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Wei-Hsin Chen, Han-Ping Chen, Yi-Ju Tseng, et al. "Newborn Screening for Phenylketonuria: Machine Learning vs Clinicians." In 2012 International Conference on Advances in Social Networks Analysis and Mining (ASONAM 2012). IEEE, 2012. http://dx.doi.org/10.1109/asonam.2012.145.

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Dafydd, Carwyn, Stuart Moat, Kevin W. Southern, and Iolo J. M. Doull. "Cystic fibrosis newborn screening for R117H in England." In ERS International Congress 2020 abstracts. European Respiratory Society, 2020. http://dx.doi.org/10.1183/13993003.congress-2020.2762.

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Elkhateeb, Nour, Nick Flynn, Sarah Hogg, and Richard Brown. "591 Lessons from the newborn screening for pompe disease: a single-center UK experience based on USA newborn screening program." In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference–Online, 15 June 2021–17 June 2021. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2021. http://dx.doi.org/10.1136/archdischild-2021-rcpch.88.

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Corona-Strauss, Farah I., Wolfgang Delb, Marc Bloching, Sheikh Hussain, and Daniel J. Strauss. "The Johor Screening Scheme: Is an Area-Wide Newborn Hearing Screening Possible in Malaysia?" In Third International Conference on Intelligent Information Hiding and Multimedia Signal Processing. IEEE, 2007. http://dx.doi.org/10.1109/iih-msp.2007.296.

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Hazen, Matthew L., and Jonathan Markowitz. "Has Newborn Screening Changed The Initial Presentation Of Cystic Fibrosis?" In American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a1840.

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Parsons, Emily, Katie Teague, Lynne Schaefer, Jacob Hogue, Anjali N. Kunz, and Rebecca J. Sainato. "Congenital CMV Screening in Infants with Failed Newborn Hearing Screens." In AAP National Conference & Exhibition Meeting Abstracts. American Academy of Pediatrics, 2021. http://dx.doi.org/10.1542/peds.147.3_meetingabstract.1033.

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Kekeç, Handan, Tuğba Şişmanlar Eyüboğlu, Ayse Tana Aslan, Volkan Medeni, and Bahar Çuhacı Çakır. "Factors Affecting Immunoreactive Trypsinogen Levels in Cystic Fibrosis Newborn Screening." In ERS Congress 2024 abstracts. European Respiratory Society, 2024. http://dx.doi.org/10.1183/13993003.congress-2024.pa2108.

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Seed, Lydia, Anna Scott, Amanda Pichini, et al. "32 Perceptions of genomic newborn screening among UK medical students." In GOSH Conference 2024. BMJ Publishing Group Ltd, 2025. https://doi.org/10.1136/bmjpo-2025-gosh.13.

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Reports on the topic "Newborn screening"

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Dubief, Jessie, Edith Sky Gross, and Fatoumata Faye. Voices on newborn screening: the opinion of people living with a rare disease. EURORDIS - Rare Diseases Europe, 2024. http://dx.doi.org/10.70790/nlmc2114.

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This report presents the European results of the survey ‘Voices on newborn screening: the opinion of people living with a rare disease’, conducted by Rare Barometer within the framework of the European Screen4Care research project. This study gathered the views of more than 6,179 people living with a rare disease and family members worldwide, 5,569 of whom were living in Europe with more than 1,300 distinct rare diseases, hence representing the diversity of the rare disease community. Respondents’ answers confirm the strong support for newborn screening from the rare disease community. They al
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Harris, Stuart, Adam Beckman, and Kevin Munro. Permanent deafness in children not identified via universal newborn hearing screening. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2023. http://dx.doi.org/10.37766/inplasy2023.5.0064.

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Whitehead, Nedra, Derek Brown, and Christine Layton. Developing a Conjoint Analysis Survey of Parental Attitudes Regarding Voluntary Newborn Screening. RTI Press, 2010. http://dx.doi.org/10.3768/rtipress.2010.mr.0014.1002.

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Whitehead, Nedra, Derek Brown, and Christine Layton. Developing a Conjoint Analysis Survey of Parental Attitudes Regarding Voluntary Newborn Screening. RTI Press, 2010. http://dx.doi.org/10.3768/rtipress.2010.mr.0014.1003.

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Kim, Julia M., Genie Han, Renee F. Wilson, et al. Pediatric Quality Measures Program 3.0: An Evidence Map of Measures for Vision, Hearing, and Developmental Screening and Followup. Agency for Healthcare Research and Quality, 2025. https://doi.org/10.23970/ahrqepctb52.

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Objective: Early detection of vision, hearing, and developmental concerns with appropriate followup can lead to timely diagnosis and treatment and improve child and adult health outcomes. To assess what quality measures have been developed for children, this technical brief provides an evidence map for existing pediatric measures for vision, hearing, and developmental screening and followup. Methods: We searched PubMed, Embase, CINAHL, Cochrane Central Register of Controlled Trials, and PsychINFO from 2009 to December 7, 2024 for relevant systematic reviews and original studies. We looked for
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