Results 11 to 20 of about 1,245,890 (249)

Perspective on newborn screening (NBS): evidence sharing on conditions to be included in NBS in Pakistan

Journal of the Pakistan Medical Association, 2022
Abstract Newborn screening aims at detecting treatable disorders early so that the treatment can be initiated to prevent mortality and morbidity. Such programmes are well established in most developed countries, and all newborns are screened for selected metabolic, endocrine and other disorders based on disease epidemiology, testing and treatment ...
Hafsa, Majid, Lena, Jafri, Sibtain, Ahmed, Khadija, Humayun, Salman, Kirmani, Natasha, Ali, Bushra, Moiz, Aysha Habib, Khan, Bushra, Afroze   +8 more
openaire   +2 more sources

Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy [PDF]

, 2021
Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of ...
Estrella, Elicia, Abbott, Mary-Alice, Hay, Beverly N., Swoboda, Kathryn J., Gerstel-Thompson, Jacalyn L., Counihan, Anne M., Chen, Jin Yun Helen, Sahai, Inderneel, Hale, Jaime E, Comeau, Anne Marie, Darras, Basil T., Kumar, Binod, Eaton, Roger B.   +12 more
core   +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

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

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

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

Newborn Screening: Current Status in Alberta, Canada

International Journal of Neonatal Screening, 2019
Newborn screening (NBS) in Alberta is delivered by a number of government and health service entities who work together to provide newborn screening to infants born in Alberta, the Northwest Territories, and the Kitikmeot region of the Nunavut territory.
Andy De Souza, Vanessa Wolan, Angie Battochio, Susan Christian, Stacey Hume, Grace Johner, Margaret Lilley, Ross Ridsdale, Kareena Schnabl, Chi Tran, Jolene Yuen-Jung, Iveta Sosova   +11 more
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

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