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Journal articles on the topic 'Newborn screening'

Author: Grafiati

Published: 4 June 2021

Last updated: 9 March 2023

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1

Kayton, Allyson. "Newborn Screening: A Literature Review." Neonatal Network 26, no. 2 (March 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 article is intended to educate health care providers in the areas of controversy that surround the U.S. newborn screening program, with the hope of encouraging further research in this important area of newborn care.

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Honzík, Tomáš, Viktor Kožich, Karolína Pešková, and Felix Votava. "Laboratory newborn screening." Česko-slovenská pediatrie 77, no. 1 (January 21, 2022): 12–18. http://dx.doi.org/10.55095/cspediatrie2022/002.

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3

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 (December 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 it significantly increased over time (Z = 2.488). The initial screening pass rate of newborns was 90.08%, and no significant difference was observed in the initial screening pass rate between different years (Z = 0.845). After two-step hearing screening, the overall hearing screening pass rate of newborns was 94.65%. The overall hearing screening pass rate in normal newborns was higher than that in high-risk newborns (95.70% vs. 93.59%). Conclusion The initial newborn hearing screening rate increased yearly in the study period, but there was still an approximately 10% referral rate. The initial screening pass rate in China needs to be further improved.

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Jones, David, Jianyin Shao, Heidi Wallis, Cody Johansen, Kim Hart, Marzia Pasquali, Ramkiran Gouripeddi, and Andreas Rohrwasser. "Towards a Newborn Screening Common Data Model: The Utah Newborn Screening Data Model." International Journal of Neonatal Screening 7, no. 4 (October 27, 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 interoperability. The use of this model can accelerate the implementation of electronic data exchange between healthcare providers and newborn screening programs, which would ultimately improve health outcomes for all newborns and standardize data exchange across programs.

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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 (April 17, 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 first four years of ALD newborn screening in California, 355 newborns screened positive for ALD, including 147 (41%) with an ABCD1 variant of uncertain significance (VUS) and 95 males diagnosed with ALD. After modifying cutoffs, we observed an ALD birth prevalence of 1 in 14,397 males. Long-term follow-up identified 14 males with signs of adrenal involvement. This study adds to a growing body of literature reporting on outcomes of newborn screening for ALD and offering a glimpse of what other large newborn screening programs can expect when adding ALD to their screening panel.

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Babac, Snezana, Dragoslava Djeric, and Zoran Ivankovic. "Newborn hearing screening." Srpski arhiv za celokupno lekarstvo 135, no. 5-6 (2007): 264–68. http://dx.doi.org/10.2298/sarh0706264b.

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Introduction: Prevalence of sensorineural hearing loss is 1-3 per 1,000 newborns. Transient evoked otoacoustic emission (TEOAE) and automated auditory brain stem responses (AABR) are most frequently used methods in newborn hearing screening programmes. Objective. The aim of this study was to examine hearing function in newborns with and without risk factors for hearing loss. We investigated accuracy and feasibility of two automated technologies: transient otoacoustic emissions (TEOAE) and auditory brain stem response (AABR) in early detection of hearing loss. Method. In prospective study, 907 newborns were tested on both ears with transient evoked otoacoustic emissions (TEOAE). If results were "refer", we performed automated brain stem response (AABR). Two stage screening protocols were used with two screening technologies (TEOAE, AABR). Results. Results showed screening pass of 86.3% of the newborns in the first protocol and 99.3% in the second. Six (0.7%) newborns had positive screening results for hearing loss. They were referred for additional audolologic tests (otoacoustic emissions, tympanometry, and auditory brain stem response) to confirm or exclude hearing loss. Audiologic examination was performed up to the third month of life. We confirmed unilateral sensorineural hearing loss in two babies. Average test time per ear was 21.3?19.4 s for TEOAE and 135.3?67.9 s for AABR. Conclusion TEOAE, AABR tests are confidential, noninvasive and feasible methods and can help to detect hearing impairment.

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Rosenau, Henning, and Felicia Steffen. "Legal aspects of newborn screening." Medizinische Genetik 34, no. 1 (April 1, 2022): 3–11. http://dx.doi.org/10.1515/medgen-2022-2110.

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Abstract Newborn screening is used for the early detection of diseases in newborns and enables rapid intervention to prevent serious consequences, including infant death. Since the Genetic Diagnostics Act came into force in 2010, the rules of the Act have applied to newborn screening. Over the years since the Act came into force, some legal issues have been resolved, but new legal aspects have also arisen for which the Act does not yet provide a solution.

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8

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 (September 27, 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 within 15-30 days. Newborns with refer result on repeat DPOAE testing were subjected to Brainstem evoked response audiometry (BERA) within 3 months to confirm hearing loss. Results Nine hundred and twenty eight newborn babies were screened by DPOAE. 851 newborns passed the first DPOAE hearing screening and 77 newborns gave refer result. 21 newborns were lost to follow-up. 56 newborns underwent repeat DPOAE testing and 5 newborns were referred for BERA. Amongst the 5 newborns who underwent BERA testing, one newborn was diagnosed with bilateral profound hearing loss. Hence, the prevalence of hearing loss of 1.08 per thousand newborn babies was estimated in this study. Conclusion Hearing screening of newborns using DPOAE followed by BERA in refer cases to confirm hearing loss is useful for early detection followed by timely intervention and rehabilitation.

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Anderson, Rebecca, Erin Rothwell, and Jeffrey R. Botkin. "Newborn Screening." Annual Review of Nursing Research 29, no. 1 (December 2011): 113–32. http://dx.doi.org/10.1891/0739-6686.29.113.

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Newborn Dried Blood Spot Screening (NBS) is a core public health service and is the largest application of genetic testing in the United States. NBS is conducted by state public health departments to identify infants with certain genetic, metabolic, and endocrine disorders. Screening is performed in the first few days of life through blood testing. Several drops of blood are taken from the baby's heel and placed on a filter paper card. The dried blood, on the filter cards, is sent from the newborn nursery to the state health department laboratory, or a commercial partner, where the blood is analyzed. Scientific and technological advances have lead to a significant expansion in the number of tests—from an average of 6 to more than 50—and there is a national trend to further expand the NBS program. This rapid expansion has created significant ethical, legal, and social challenges for the health care system and opportunity for scholarly inquiry to address these issues. The purpose of this chapter is to provide an overview of the NBS programs and to provide an in-depth examination of two significant concerns raised from expanded newborn screening, specifically false-positives and lack of information for parents. Implications for nursing research in managing these ethical dilemmas are discussed.

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Little, Cindy M., and Judith A. Lewis. "Newborn Screening." Newborn and Infant Nursing Reviews 8, no. 1 (March 2008): 3–9. http://dx.doi.org/10.1053/j.nainr.2007.12.004.

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El-Hattab, Ayman W., Mohammed Almannai, and V. Reid Sutton. "Newborn Screening." Pediatric Clinics of North America 65, no. 2 (April 2018): 389–405. http://dx.doi.org/10.1016/j.pcl.2017.11.013.

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12

Sahai, Inderneel, and Deborah Marsden. "Newborn Screening." Critical Reviews in Clinical Laboratory Sciences 46, no. 2 (March 2009): 55–82. http://dx.doi.org/10.1080/10408360802485305.

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Wilcken, Bridget, and Veronica Wiley. "Newborn screening." Pathology 40, no. 2 (February 2008): 104–15. http://dx.doi.org/10.1080/00313020701813743.

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FEERO, GREG, and R. Rodney Howell. "Newborn Screening." Family Practice News 38, no. 19 (October 2008): 44. http://dx.doi.org/10.1016/s0300-7073(08)71257-x.

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Silva, Stella G. de. "Newborn screening." Sri Lanka Journal of Child Health 30, no. 2 (July 17, 2009): 23. http://dx.doi.org/10.4038/sljch.v30i2.822.

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Almannai, Mohammed, Ronit Marom, and V. Reid Sutton. "Newborn screening." Current Opinion in Pediatrics 28, no. 6 (December 2016): 694–99. http://dx.doi.org/10.1097/mop.0000000000000414.

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Lavin, Lindsay Roofe, Nicholas Higby, and Thomas Abramo. "Newborn Screening." Pediatric Emergency Care 31, no. 9 (September 2015): 661–67. http://dx.doi.org/10.1097/pec.0000000000000549.

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Tluczek, Audrey, Kate Murphy Orland, Sara Wolfgram Nick, and Roger L. Brown. "Newborn Screening." Journal of Perinatal & Neonatal Nursing 23, no. 4 (October 2009): 326–34. http://dx.doi.org/10.1097/jpn.0b013e3181a1bc1f.

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19

Berry, Susan A. "Newborn Screening." Clinics in Perinatology 42, no. 2 (June 2015): 441–53. http://dx.doi.org/10.1016/j.clp.2015.03.002.

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Bailey, Donald B., and Lisa Gehtland. "Newborn Screening." JAMA 313, no. 15 (April 21, 2015): 1511. http://dx.doi.org/10.1001/jama.2014.17488.

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Moreno, Megan A. "Newborn Screening." JAMA Pediatrics 170, no. 6 (June 1, 2016): 628. http://dx.doi.org/10.1001/jamapediatrics.2015.2519.

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Chiang, Shu-Chuan, Pin-Wen Chen, Wuh-Liang Hwu, An-Ju Lee, Li-Chu Chen, Ni-Chung Lee, Li-Yan Chiou, and Yin-Hsiu Chien. "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 (December 18, 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 cutoffs for the first screening test and a second-tier test for Pompe disease screening. The second-tier Pompe disease screening test measured activity inhibition by acarbose. Twenty-nine newborns required a confirmatory test; six were confirmed to have Pompe disease, and nine were confirmed to have Fabry disease. The screen-positive rate for Pompe disease was 0.031%. Therefore, in Pompe disease newborn screening, a validated 2nd tier test is necessary to decrease false positives.

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Yusuf, Careema, Marci K. Sontag, Joshua Miller, Yvonne Kellar-Guenther, Sarah McKasson, Scott Shone, Sikha Singh, and Jelili Ojodu. "Development of National Newborn Screening Quality Indicators in the United States." International Journal of Neonatal Screening 5, no. 3 (September 12, 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 quality improvement metrics from each state. The QIs span the newborn screening process from collection of a dried blood spot through medical intervention for a screened condition. These data are collected and analyzed to support data-driven outcome assessments and tracking performance to improve the quality of the newborn screening system.

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Singh, Karam Chandrajit. "A retrospective study on newborn screening for metabolic disorders." Bioinformation 18, no. 12 (December 31, 2022): 1122–25. http://dx.doi.org/10.6026/973206300181122.

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The process of testing newborn infants for hormonal, genetic, metabolic, and other disorders is known as newborn screening (NSB). Newborn screening is essential for detecting, diagnosing, and treating disorders that could save serious consequences for a newborn's health. Congenital Hypothyroidism (CH), Cystic Fibrosis (CF), Glucose-6-phosphate dehydrogenase (G6PD) deﬁciency, and Profound Biotinidase deficiency (BD) are common disorders in India. A retrospective analysis of the results of NBS by Cord blood spots was performed at the department of Obstetrics and Gynecology, 7 Airforce Hospital, Kanpur, Uttar Pradesh, from June 2022 to September 2022. During this period, 26 newborns were screened for four disorders, including CH, CF, G6PD deficiency, and BD. In this investigation, no cases of CH, CF, G6PD deficiency, or BD were found to be positive. The results of the current data provide a distinct opportunity to investigate the birth prevalence of inborn metabolic disorders in the area close to the city of Kanpur.

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Jatto, Mercy E., Segun A. Ogunkeyede, Adebolajo A. Adeyemo, Kazeem Adeagbo, and Orinami Saiki. "Mothers’ perspectives of newborn hearing screening programme." Ghana Medical Journal 52, no. 3 (December 26, 2018): 158–62. http://dx.doi.org/10.4314/gmj.v52i3.9.

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Background: Newborn hearing screening programs identifies newborns with hearing loss. The early identification enables prompt intervention through hearing rehabilitation. Accurate knowledge of the program and its benefit will impact on the uptake of the program by the citizenry. We hypothesized that there is a gap in the knowledge of parents on hearing screening and rehabilitation measures in Nigeria.Aim: To determine the knowledge and perceptions of mothers of newborn children on hearing screening.Methods: A cross sectional observational study among mothers of newborn children at immunization clinics. Semi structured questionnaire on gestational duration, mode of delivery, birth asphyxia, knowledge on hearing loss and newborn hearing screening were administered.Results: Participants were 48 mothers with age range from 18 to 42 years. Awareness of newborn hearing screening was poor among the mothers; sources of information on newborn hearing screening were antenatal clinic, mass media and friends. The educational level of the participants had no association with awareness (p = 0.11), but the willingness to accept newborn hearing screening, was associated with socioeconomic status (p = 0.04) and the level of education (p = 0.02). The participants were not aware of factors responsible for hearing loss in childhood.Conclusion: There is inadequate knowledge about newborn hearing screening and risk factors for infant hearing loss among the mothers, though they demonstrate willingness to accept the newborn hearing screening. Funding: None declaredKeywords: Hearing loss, hearing screening, immunization, mother, newborn

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Shook, Lisa M., Deidra Haygood, and Charles T. Quinn. "Clinical Utility of Confirmatory Genetic Testing to Differentiate Sickle Cell Trait from Sickle-β+-Thalassemia by Newborn Screening." International Journal of Neonatal Screening 6, no. 1 (January 31, 2020): 7. http://dx.doi.org/10.3390/ijns6010007.

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Hemoglobin separation techniques are the most commonly used laboratory methods in newborn screening and confirmatory testing programs for hemoglobinopathies. However, such protein-based testing cannot accurately detect several hemoglobinopathies in newborns, especially when β-thalassemia mutations are involved. Here, we describe a consecutive cohort of newborns who were identified by newborn screening to have a likely diagnosis of sickle-β+-thalassemia (having an “FSA” pattern) who were determined to have sickle cell traits by confirmatory and genetic testing. We illustrate the clinical utility of genetic testing to make a correct and timely diagnosis in the setting of newborn screening for hemoglobinopathies.

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Hale, Kshea, Jelili Ojodu, and Sikha Singh. "Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021." International Journal of Neonatal Screening 7, no. 3 (June 24, 2021): 33. http://dx.doi.org/10.3390/ijns7030033.

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Newborn screening (NBS) programs identify newborns at increased risk for genetic disorders, linking these newborns to timely intervention and potentially life-saving treatment. In the United States, the Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends the disorders for state NBS programs to screen. ACHDNC updated the Recommended Uniform Screening Panel to include Spinal Muscular Atrophy (SMA) in July 2018. As of June 2021, 34 state NBS programs had fully implemented SMA newborn screening, and at least 8 programs were pursuing implementation. This article will review current SMA screening processes, considerations, challenges, and status.

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Šmon, Andraž, Urh Grošelj, Mojca Žerjav Tanšek, Ajda Biček, Adrijana Oblak, Mirjana Zupančič, Ciril Kržišnik, et al. "Newborn Screening in Slovenia / Presejanje Novorojencev V Sloveniji." Slovenian Journal of Public Health 54, no. 2 (March 1, 2015): 86–90. http://dx.doi.org/10.1515/sjph-2015-0013.

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AbstractIntroduction. Newborn screening in whole Slovenia started in 1979 with screening for phenylketonuria (PKU). Congenital hypothyroidism (CH) was added into the programme in 1981. The aim of this study was to analyse the data of neonatal screening in Slovenia from 1993 to 2012 for PKU, and from 1991 to 2012 for CH.Methods. Blood samples were collected from the heels of newborns between the third and the fifth day after birth. Fluorometric method was used for screening for PKU, CH screening was done by dissociationenhanced lanthanide fluorescent immunoassay (DELFIA).Results. From 1993 to 2012, from 385,831 newborns 57 were identified with PKU. 184 newborns out of 427,396 screened from 1991 to 2012, were confirmed for CH. Incidences of PKU and CH in the periods stated are 1:6769 and 1:2323, respectively.Conclusions. Successful implementation of newborn screening for PKU and CH has helped in preventing serious disabilities of the affected children. Adding screening for new metabolic diseases in the future would be beneficial.

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Hamam, Kusumagani, and Nyilo Purnami. "NEWBORNS HEARING SCREENING WITH OTOACOUSTIC EMISSIONS AND AUDITORY BRAINSTEM RESPONSE." Journal of Community Medicine and Public Health Research 1, no. 1 (June 28, 2020): 1. http://dx.doi.org/10.20473/jcmphr.v1i1.20287.

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Hearing loss in newborns is a serious matter, if it is not quickly diagnosed and starts early intervention, a child will experience social, speech, language, cognitive, and academic impairments. There is a method of hearing screening in newborns, which is divided into two types, universal newborn hearing screening, and targeted newborn screening. Both of these methods use OAEs and ABR as objective examination tools. The hearing screening method varies in each country, this difference is based on the test equipment used, age, frequency, professionals involved in screening, referral procedures, funding, and coverage areas. Indonesia uses two stages of screening, while Italy, America, Nigeria, France, India, and Poland use two to five stages of screening. Hearing screening of newborns using OAEs and ABR has a sensitivity of 100% and specificity of 99,3%.

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Navarrete, Juana Ines. "Lysosomal Newborn Screening in a Cohort in Mexican Population-." Blood 126, no. 23 (December 3, 2015): 5581. http://dx.doi.org/10.1182/blood.v126.23.5581.5581.

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Abstract INTRODUCTION: The goal of newborn screening is an early detection of inborn erros of metabolism diseases. In Mexico we began newborn screening since 1977 with very few inborn errors of metabolism such as phenylketonuria, galactosemia, congenital hypothyroidism, sickle cell anemia and cytic fibrosis (1). Since that date we have been increasing our newborn screening our newborn screening slowly and now a days we screen in most states of the country 15 inborn errors of metabolism(2). In 2012 we started with some patients through out the country a wider neonatal screening that include 5 lysosomal storage diseases. MATERIAL AND METHODS: Petróleos Mexicanos is a big governmental institution with approximately 10,000 workers and their families. Since 2005 a larger newborn screening has been done to all newborns in this institution through all the country. We test for most aminoacidopathies, including acidurias, hemoglobinopathies, G6PD deficiency, adrenal hyperplasia, cystic fibrosis and biotinidase deficiency; since August 2012 we included 6 lysosomal storage diseases; Gaucher disease, Fabry disease, Hurler disease, Pompe disease, Niemann-Pick type A and B disease and Krabbe disease. RESULTS: Up to date we have screened 10,853 newborns, we have found 9 patients with lysosomal storage diseases. We found 4 newborns with mutations for Fabry disease, 4 newborns with Pompe disease, three were pseudodeficiencies and one was combined heterozygous for a late onset presentation and pseudodeficiencies and 1 patient with Hurler disease (Table 2). We present here our clinical correlation between genotype-phenotype in these patients. We found a frequency in our population of 1 in 2713 newborns for both Fabry and Pompe disease. DISCUSSION: Newborn screening is a major public health achievement that has improve the morbidity and mortality of inborn errors of metabolism. The introduction of newborn screening for lysosomal storage diseases presents new challenges. This is the first latinamerican study of early detection of lysosomal storage diseases made by neonatal screening there are about 11 similar international studies. It is important point out that the most common lysosomal storage disease found in our study was Pompe diseases the pseudodeficiency type and Fabry disease type II with a frequency of 1 in 2713 newborns for both diseases. Spada et al; and Hwu et al; have reported frequencies of 1 in 1250 to 3100 male newborns. The mutation most commonly found was c.1088G>A, (p.R363H) for Fabry disease and c.1726G>A(p.G576S) for Pompe disease. References: 1. Nakamura K, Am J Med Genet Part C, 2011; 157, 63-71. 2. Zhou et al, J. Pediatr 2011 159 1 7-13. 3. Alterescu GM, Clin. Genet 2001:60:46-51. 2001. 4. Desnick R. J.: Enzyme Replacement Therapy and Enhancement therapies for Lysosomal Storage Diseases. J. Inher Metab Dis 2004; 27:385-4013. Disclosures No relevant conflicts of interest to declare.

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Marsden, Deborah, and Harvey Levy. "Newborn Screening of Lysosomal Storage Disorders." Clinical Chemistry 56, no. 7 (July 1, 2010): 1071–79. http://dx.doi.org/10.1373/clinchem.2009.141622.

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Abstract Background: Newborn screening is a state-based public health program established as a means for the early detection and treatment of certain medical conditions to minimize developmental disability and mortality. The program was initiated more than 40 years ago to detect and prevent phenylketonuria. Recent technological advances have expanded the scope of newborn screening to include more than 30 inborn errors of metabolism. Consideration is now being given to inclusion of screening for lysosomal storage disorders (LSDs). Content: Some lysosomal storage disorders (LSDs) express early in infancy or childhood and are treatable. Initiation of treatment in presymptomatic patients or in syptomatic patients before important symptoms are present may improve the long-term outcome. Therefore, early diagnosis is critical. Based on the availability of therapy and development of a screening method, 6 of the more than 40 known LSDs are candidates for newborn screening in the US: Gaucher disease, Pompe disease, Fabry disease, Niemann-Pick disease, mucopolysaccharidosis I, and Krabbe disease. This report reviews the history of newborn screening, the technology that has allowed for expanded screening during the last decade, LSDs and their treatment, and the evolving methods that might allow additional expansion of newborn screening to include certain LSDs. Summary: Recent and evolving technological advances may be implemented for newborn screening for LSDs. This screening will identify presymptomatic newborns, allowing for early treatment and prevention or limitation of morbidity otherwise associated with these inherited rare diseases.

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Matulat, Peter, and Ross Parfitt. "The Newborn Hearing Screening Programme in Germany." International Journal of Neonatal Screening 4, no. 3 (September 16, 2018): 29. http://dx.doi.org/10.3390/ijns4030029.

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This article presents an overview of legal, methodological, organisational, financial, structural and technical aspects of the initial audiological measurement of newborns (screening), follow-up (diagnosis) and tracking the results (tracking) within the German newborn hearing screening programme.

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Hartnett, Michael J., Michele A. Lloyd-Puryear, Norma P. Tavakoli, Julia Wynn, Carrie L. Koval-Burt, Dorota Gruber, Tracy Trotter, et al. "Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot." International Journal of Neonatal Screening 8, no. 4 (September 22, 2022): 50. http://dx.doi.org/10.3390/ijns8040050.

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Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high priority. We undertook a consortia approach to advance DMD newborn screening in the United States. This manuscript describes the formation of the Duchenne Newborn Screening Consortium, the development of the pilot protocols, data collection tools including parent surveys, and findings from the first year of a two-year pilot. The DMD pilot design is population-based recruitment of infants born in New York State. Data tools were developed to document the analytical and clinical validity of DMD NBS, capture parental attitudes, and collect longitudinal health information for diagnosed newborns. Data visualizations were updated monthly to inform the consortium on enrollment. After 12 months, 15,754 newborns were screened for DMD by the New York State Newborn Screening (NYS NBS) Program. One hundred and forty screened infants had borderline screening results, and sixteen infants were referred for molecular testing. Three male infants were diagnosed with dystrophinopathy. Data from the first year of a two-year NBS pilot for DMD demonstrate the feasibility of NBS for DMD. The consortia approach was found to be a useful model, and the Newborn Screening Translational Research Network’s data tools played a key role in describing the NBS pilot findings and engaging stakeholders.

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Blom, Maartje, Robbert Bredius, Gert Weijman, Eugènie Dekkers, Evelien Kemper, M. van den Akker-van Marle, Catharina van der Ploeg, Mirjam van der Burg, and Peter Schielen. "Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program." International Journal of Neonatal Screening 4, no. 4 (December 12, 2018): 40. http://dx.doi.org/10.3390/ijns4040040.

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The implementation of newborn screening for severe combined immunodeficiency (SCID) in the Netherlands is a multifaceted process in which several parties are involved. The Dutch Ministry of Health adopted the advice of the Dutch Health Council to include SCID in the Dutch newborn screening program in 2015. As newborn screening for SCID is executed with a new, relatively expensive assay for the Dutch screening laboratory, an implementation pilot study is deemed instrumental for successful implementation. A feasibility study was performed in which the practicalities and preconditions of expanding the newborn screening program were defined. Cost-effectiveness analysis (CEA) indicated that SCID screening in the Netherlands might be cost-effective, recognizing that there are still many uncertainties in the variables underlying the CEA. Data and experience of the pilot study should provide better estimates of these parameters, thus enabling the actualization of CEA results. Prior to the implementation pilot study, a comparison study of two commercially available SCID screening assays was performed. A prospective implementation pilot study or so-called SONNET study (SCID screening research in the Netherlands with TRECs) started in April 2018 and allows the screening for SCID of all newborns in three provinces of the Netherlands for one year. Based on the results of the SONNET study, the Dutch Ministry of Health will make a final decision about national implementation of newborn screening for SCID in the Netherlands.

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Asamoah, Alexander, Sainan Wei, Kelly E. Jackson, Joseph H. Hersh, and Harvey Levy. "Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening." International Journal of Neonatal Screening 7, no. 3 (July 23, 2021): 48. http://dx.doi.org/10.3390/ijns7030048.

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Homocystinuria, caused by cystathionine β-synthase deficiency, is a rare inherited disorder involving metabolism of methionine. Impaired synthesis of cystathionine leads to accumulation of homocysteine that affects several organ systems leading to abnormalities in the skeletal, cardiovascular, ophthalmic and central nervous systems. We report a 14-month-old and a 7-year-old boy who presented with neurologic dysfunction and were found to have cerebral venous sinus thromboses on brain magnetic resonance imaging (MRI)/magnetic resonance venogram (MRV) and metabolic and hypercoagulable work-up were consistent with classic homocystinuria. The 14-month-old boy had normal newborn screening. The 7-year-old boy initially had an abnormal newborn screen for homocystinuria but second tier test that consisted of total homocysteine was normal, so his newborn screen was reported as normal. With the advent of expanded newborn screening many treatable metabolic disorders are detected before affected infants and children become symptomatic. Methionine is the primary target in newborn screening for homocystinuria and total homocysteine is a secondary target. Screening is usually performed after 24–48 h of life in most states in the US and some states perform a second screen as a policy on all tested newborns or based on when the initial newborn screen was performed. This is done in hopes of detecting infants who may have been missed on their first screen. In the United Kingdom, NBS using dried blood spot is performed at 5 to 8 days after birth. It is universally known that methionine is a poor target and newborn screening laboratories have used different cutoffs for a positive screen. Reducing the methionine cutoff increases the sensitivity but not necessarily the specificity of the test and increasing the cutoff will miss babies who may have HCU whose levels may not be high enough to be detected at their age of ascertainment. It is not clear whether adjusting methionine level to decrease the false negative rates combined with total homocysteine as a second-tier test can be used effectively and feasibly to detect newborns with HCU. Between December 2005 and December 2020, 827,083 newborns were screened in Kentucky by MS/MS. Kentucky NBS program uses the postanalytical tools offered by the Collaborative Laboratory Integrated Reports (CLIR) project which considers gestational age and birthweight. One case of classical homocystinuria was detected and two were missed on first and second tier tests respectively. The newborn that had confirmed classical homocystinuria was one of twenty-three newborns that were referred for second tier test because of elevated methionine (cutoff is >60 µmol/L) and/or Met/Phe ratio (cutoff is >1.0); all 23 dried blood spots had elevated total homocysteine. One of the subjects of this case report had a normal methionine on initial screen and the other had a normal second-tier total homocysteine level. The performance of methionine and total homocysteine as screening analytes for homocystinuria suggest that it may be time for newborn screening programs to consider adopting next generation sequencing (NGS) platforms as alternate modality of metabolic newborn screening. Because of cost considerations, newborn screening programs may not want to adopt NGS, but the downstream healthcare cost incurred due to missed cases and the associated morbidity of affected persons far exceed costs to newborn screen programs. Since NGS is becoming more widely available and inexpensive, it may be feasible to change testing algorithms to use Newborn Metabolic NGS as the primary mode of testing on dry blood specimens with confirmation with biochemical testing. Some commercial laboratories have Newborn Screening Metabolic gene panel that includes all metabolic disorders on the most comprehensive newborn screening panel in addition to many other conditions that are not on the panel. A more targeted NGS panel can be designed that may not cost much and eventually help avoid the pitfalls associated with delayed diagnosis and cost of screening.

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Yamashita, Hiroshi. "Newborn hearing screening." AUDIOLOGY JAPAN 55, no. 2 (2012): 111–17. http://dx.doi.org/10.4295/audiology.55.111.

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Hazell, Professor Tony. "Newborn hearing screening." Paediatric Nursing 18, no. 5 (June 2006): 9. http://dx.doi.org/10.7748/paed.18.5.9.s18.

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Joarder, Md Abul Hasnat. "Newborn Hearing Screening." Bangladesh Journal of Otorhinolaryngology 23, no. 2 (January 26, 2020): 105–8. http://dx.doi.org/10.3329/bjo.v23i2.45136.

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Coates, Harvey, and Kim Gifkins. "Newborn hearing screening." Australian Prescriber 26, no. 4 (August 1, 2003): 82–84. http://dx.doi.org/10.18773/austprescr.2003.062.

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Jerger, James. "Universal Newborn Screening." Journal of the American Academy of Audiology 12, no. 02 (February 2001): i. http://dx.doi.org/10.1055/s-0042-1745580.

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卫, 红利. "Newborn Hearing Screening." Advances in Clinical Medicine 12, no. 02 (2022): 1090–94. http://dx.doi.org/10.12677/acm.2022.122160.

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Fort, Marcia. "Newborn Hearing Screening." North Carolina Medical Journal 78, no. 2 (March 2017): 96–100. http://dx.doi.org/10.18043/ncm.78.2.96.

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ROTH, KARL S. "Newborn Metabolic Screening." Southern Medical Journal 79, no. 1 (January 1986): 47–54. http://dx.doi.org/10.1097/00007611-198601000-00014.

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Wraight, C. Lydia, and Farrah Rajabi. "Newborn Screening Programs." Pediatric Annals 47, no. 12 (December 1, 2018): e472-e473. http://dx.doi.org/10.3928/19382359-20181121-01.

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Timmermans, Stefan, and Mara Buchbinder. "Potentializing Newborn Screening." Current Anthropology 54, S7 (October 2013): S26—S35. http://dx.doi.org/10.1086/670971.

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Day, Lin. "Newborn screening tests." Early Years Educator 14, no. 9 (January 2013): 22–34. http://dx.doi.org/10.12968/eyed.2013.14.9.32.

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George, Sherin Anne, Arwa Alawadhi, and Hiba Al Reefy. "Newborn Hearing Screening." Bahrain Medical Bulletin 38, no. 3 (September 2016): 148–50. http://dx.doi.org/10.12816/0047488.

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Fearing, Marsha K., and Deborah Marsden. "Expanded Newborn Screening." Pediatric Annals 32, no. 8 (August 1, 2003): 509–15. http://dx.doi.org/10.3928/0090-4481-20030801-08.

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Dunn, Laurie, Katherine Gordon, Julia Sein, and Kimberly Ross. "Universal Newborn Screening." Southern Medical Journal 105, no. 4 (April 2012): 218–22. http://dx.doi.org/10.1097/smj.0b013e31824f8220.

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Joseph, Rachel A. "Expanded Newborn Screening." Advances in Neonatal Care 17, no. 3 (June 2017): 151–61. http://dx.doi.org/10.1097/anc.0000000000000381.

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