Results 21 to 30 of about 1,360,274 (268)

Insights into National Laboratory Newborn Screening and Future Prospects

Medicina, 2022
Newborn screening (NBS) is a group of tests that check all newborns for certain rare conditions, covering several genetic or metabolic disorders. The laboratory NBS is performed through blood testing.
Ahmed H. Mujamammi
doaj   +1 more source

Establishing a National Community of Practice for Newborn Screening Follow-Up

International Journal of Neonatal Screening, 2021
Newborn screening (NBS) follow-up programs in the United States are managed at the state level, leaving limited opportunities for collaboration across programs and coordinated resource sharing.
Erin Darby, John Thompson, Carol Johnson, Sikha Singh, Jelili Ojodu   +4 more
doaj   +1 more source

Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine SMN2 Copy Number [PDF]

, 2022
Promising treatments for spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, prompted calls for inclusion in newborn screening (NBS).
Barton, Samantha, Kordowska, Jolanta, Hale, Jaime E, Comeau, Anne Marie, Kumar, Binod, Eaton, Roger B., Counihan, Anne M.   +6 more
core   +1 more source

Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States

International Journal of Neonatal Screening, 2020
Newborn screening (NBS) is a state-based public health program that aims to identify newborns at risk of certain disorders in the first days after birth to prevent permanent disability or death. Disorders on the Health and Human Services Federal Advisory
Sari Edelman, Hiral Desai, Trey Pigg, Careema Yusuf, Jelili Ojodu   +4 more
doaj   +1 more source

Pain points in parents’ interactions with newborn screening systems: a qualitative study

BMC Pediatrics, 2022
Background & Objectives This study aims to explore and elucidate parents’ experience of newborn screening [NBS], with the overarching goal of identifying desiderata for the development of informatics-based educational and health management resources ...
Mike Conway, Truc Thuy Vuong, Kim Hart, Andreas Rohrwasser, Karen Eilbeck   +4 more
doaj   +1 more source

Establishing Pompe Disease Newborn Screening: The Role of Industry

International Journal of Neonatal Screening, 2020
When clinical trials for enzyme replacement therapy for Pompe disease commenced, a need for newborn screening (NBS) for Pompe disease was recognized. Two methods for NBS for Pompe disease by measuring acid α-glucosidase in dried blood spots on filter ...
Joan M. Keutzer
doaj   +1 more source

Philippine Performance Evaluation and Assessment Scheme (PPEAS): Experiences in Newborn Screening System Quality Improvement

International Journal of Neonatal Screening, 2020
Newborn Bloodspot Screening (NBS) has existed for over 60 years, having been initiated by Guthrie in the U.S. In the Philippines, NBS was introduced in 1996 and later was supported by legislation. The NBS program now includes 29 conditions, covering 91.6%
Carmencita D. Padilla, Bradford L. Therrell, Karen Asuncion R. Panol, Riza Concordia N. Suarez, Ma. Elouisa L. Reyes, Charity M. Jomento, Ebner Bon G. Maceda, Jovy Ann C. Lising, Frederick David E. Beltran, Lita L. Orbillo   +9 more
doaj   +1 more source

Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance [PDF]

, 2018
Newborn screening (NBS) identifies infants with rare conditions to prevent death or the onset of irreversible morbidities. Conditions on the Health and Human Services Secretary’s Recommended Uniform Screening Panel have been adopted by most state ...
Kathryn Hassell, Susan R. Rose, Cynthia Hinton, Marci K. Sontag, Kupper A. Wintergerst, Ojodu, Jelili, Careema Yusuf, Rose, Susan R., Sikha Singh, Cynthia F. Hinton, Deboshree Sarkar, Smith-Whitley, Kim, Yusuf, Careema, Copeland, Sara, Parad, Richard, Lorenzo D. Botto, Marci K. Sontag, Cynthia F. Hinton, Sontag, Marci K., Singh, Sikha, Lorenzo D. Botto, Sara Copeland, Susan Rose, Hinton, Cynthia F., Anne M. Comeau, Botto, Lorenzo D., Comeau, Anne M., Kim Smith-Whitley, Jelili Ojodu, Marci Sontag, Anne M. Comeau, Richard Parad, Lorenzo Botto, Sarkar, Deboshree, Hassell, Kathryn, Kupper Wintergerst, Kupper A. Wintergerst, Susan R. Rose, Comeau, Anne Marie, Wintergerst, Kupper A., Anne Comeau   +40 more
core   +1 more source

A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child

Orphanet Journal of Rare Diseases, 2023
Background Primary carnitine deficiency is an inborn error of metabolism, which can lead to life-threating complications early in life. Low carnitine levels can be detected by newborn bloodspot screening (NBS).
Lieke M. van den Heuvel, Adriana Kater-Kuipers, Tessa van Dijk, Loek L. Crefcoeur, Gepke Visser, Mirjam Langeveld, Lidewij Henneman   +6 more
doaj   +1 more source

COVID-19 Pandemic-Related Impacts on Newborn Screening Public Health Surveillance

International Journal of Neonatal Screening, 2022
Newborn screening (NBS) is an essential public health service that performs screening to identify those newborns at increased risk for a panel of disorders, most of which are genetic. The goal of screening is to link those newborns at the highest risk to
Sikha Singh, Michele Caggana, Carol Johnson, Rachel Lee, Guisou Zarbalian, Amy Gaviglio, Alisha Keehn, Mia Morrison, Scott J. Becker, Jelili Ojodu   +9 more
doaj   +1 more source