Results 91 to 100 of about 1,360,274 (268)

A Practical Guide to Implementing Population Newborn Screening (NBS) for Severe Combined Immunodeficiency (SCID) [PDF]

International Journal of Neonatal Screening, 2017
This review should be seen as a practical tool, one which we hope illustrates potential routes to follow when seeking to implement or lobby for severe combined immunodeficiency newborn screening (SCID NBS) at a national or regional level. Experience has shown that there are country- and region-wide variations in terms of awareness of the need for SCID ...
openaire   +3 more sources

Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report [PDF]

, 2009
Newborn screening for cystic fibrosis offers the opportunity for early intervention and improved outcomes. This summary, resulting from a workshop sponsored by the Cystic Fibrosis Foundation to facilitate implementation of widespread high quality cystic ...
Massie, John H., Farrell, Philip M., Wilfond, Benjamin S., Sontag, Marci K., Hoffman, Gary, Rosenfeld, Margaret, O'Sullivan, Brian P., Parad, Richard B., Campbell, Preston W., Comeau, Anne Marie, Accurso, Frank J., White, Terry B.   +11 more
core   +1 more source

Pregnancy‐Related Risk and Birth Setting Trends: Insights From Indonesian Demographic Health Survey Data

Birth, EarlyView.
New analysis from 15 years of Indonesian Demographic Health Survey Data has identified a shift from home birth to hospital birth. However, 65% of women who gave birth in hospital had no risk factors, while 13% of women who gave birth at home did report pregnancy‐related risk factors.
Kai Hodgkin, Grace Joshy, Kamalini Lokuge   +2 more
wiley   +1 more source

American College of Medical Genetics and Genomics ACT Sheets Are a Vital Resource for State Newborn Screening Programs

International Journal of Neonatal Screening
The American College of Medical Genetics and Genomics (ACMG) and the National Coordinating Center for the Regional Genetics Networks (NCC)-developed ACT sheets are a vital resource for state newborn screening (NBS) programs. They allow NBS programs to be
Virginia Sack, Sara Etienne, Grace Beal, Sarah Bradley, Michele Caggana   +4 more
doaj   +1 more source

India: The Last and Best Frontier for Cystic Fibrosis Newborn Screening with Perspectives on Special Challenges

International Journal of Neonatal Screening
Because a delayed diagnosis of cystic fibrosis (CF) is detrimental and may be fatal, screening at birth has become routine in the Western world and has proven beneficial for many reasons, in addition to enabling prompt specialized care. Newborn screening
P. Farrell, G. Paul, S. Varkki
semanticscholar   +1 more source

Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs [PDF]

, 2012
In November 2003, CDC and the Cystic Fibrosis Foundation cosponsored a workshop to review the benefits and risks associated with newborn screening for cystic fibrosis (CF).
Grosse, Scott D., Boyle, Coleen A., Wilfond, Benjamin S., Rosenfeld, Margaret, Kharrazi, Martin, Comeau, Anne Marie, Botkin, Jeffrey R.   +6 more
core  

Parental Attitudes Toward Ethical and Social Issues Surrounding the Expansion of Newborn Screening Using New Technologies

, 2011
This study assessed parent knowledge of newborn screening (NBS) and parent attitudes toward NBS for untreatable conditions, NBS for late-onset disorders and informed consent in ...
Fergus, K A, Ojeda, N, Hasegawa, L E, Au, S M   +3 more
core   +1 more source

Post‐Traumatic Growth in a Canadian Perinatal Population During the COVID‐19 Pandemic: A Qualitative Examination

Birth, EarlyView.
ABSTRACT Introduction Post‐traumatic growth (PTG) has been examined in the context of COVID‐19‐related stress; however, there has been less consideration for PTG in more vulnerable groups, such as pregnant and postpartum women. This study aimed to qualitatively explore PTG (through silver lining experiences) in a perinatal population and to understand ...
Jada Benedictson, Gabrielle S. Logan, Kristin Reynolds, Natalie Mota, Renée El‐Gabalawy   +4 more
wiley   +1 more source

Learning Collaborative to Support Continuous Quality Improvement in Newborn Screening

International Journal of Neonatal Screening
As newborn screening (NBS) programs deal with growing complexities, including adding new disorders to their screening panels, adopting new technologies/screening methods, and workforce shortages, there is a greater need for continuous quality improvement
Elizabeth Jones, Sikha Singh, Sarah McKasson, Ruthanne Sheller, Jelili Ojodu, Ashley Comer   +5 more
doaj   +1 more source

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program

International Journal of Neonatal Screening
Metachromatic leukodystrophy (MLD) is a rare inherited disorder of lysosomal storage, caused by a deficiency in the arylsulfatase A (ARSA) enzyme, leading to toxic accumulation of sulfatides, which progressively impair motor and cognitive function.
S. Malvagia, Alessandra Bettiol, Margherita Porcaro, Massimo Mura, S. Funghini, Daniela Ombrone, Giulia Forni, Emanuela Scolamiero, Filippo Coppi, Roberta Damiano, C. Cereda, Simonetta Simonetti, Annalisa Lonetti, M. Daniotti, A. Caciotti, Amelia Morrone, V. Calbi, F. Fumagalli, A. Aiuti, Elena Procopio, R. Guerrini, G. la Marca   +21 more
semanticscholar   +1 more source