Psychosocial issues related to newborn screening: a systematic review and synthesis
A Tluczek, AL Ersig, S Lee - International Journal of Neonatal Screening, 2022 - mdpi.com
Genomic advances have contributed to a proliferation of newborn screening (NBS)
programs. Psychosocial consequences of NBS have been identified as risks to these public …
programs. Psychosocial consequences of NBS have been identified as risks to these public …
Receiving results of uncertain clinical relevance from population genetic screening: systematic review & meta-synthesis of qualitative research
Genetic screening can be hugely beneficial, yet its expansion poses clinical and ethical
challenges due to results of uncertain clinical relevance (such as 'cystic fibrosis screen …
challenges due to results of uncertain clinical relevance (such as 'cystic fibrosis screen …
Pain points in parents' interactions with newborn screening systems: a qualitative study
Abstract Background & Objectives This study aims to explore and elucidate parents'
experience of newborn screening [NBS], with the overarching goal of identifying desiderata …
experience of newborn screening [NBS], with the overarching goal of identifying desiderata …
Diverse parental perspectives of the social and educational needs for expanding newborn screening through genomic sequencing
GT Timmins, J Wynn, AM Saami, A Espinal… - Public health …, 2022 - karger.com
Objective: The aim of this study was to explore the parental views, attitudes, and preferences
of expanded newborn screening (NBS) through genomic sequencing. Study Design: We …
of expanded newborn screening (NBS) through genomic sequencing. Study Design: We …
Assessing the content quality of online parental resources about newborn metabolic disease screening: A content analysis
OMY Ngan, WK Wong, JC Tam, CK Li - International Journal of Neonatal …, 2022 - mdpi.com
Parents increasingly utilise the internet to obtain information on health practices, but the
quality of online information about screening for inherited metabolic diseases (IMD) needs to …
quality of online information about screening for inherited metabolic diseases (IMD) needs to …
Co-designed strategies for delivery of positive newborn bloodspot screening results to parents: The ReSPoND mixed-methods study
JH Chudleigh, P Holder, F Fusco… - Health and Social …, 2022 - openaccess.city.ac.uk
Background Newborn bloodspot screening identifies presymptomatic babies who are
affected by genetic or congenital conditions. Each year, around 10,000 parents of babies …
affected by genetic or congenital conditions. Each year, around 10,000 parents of babies …
Communication of an abnormal metabolic new-born screening result in the Netherlands: the parental perspective
S Haitjema, CMA Lubout, JHM Zijlstra… - Nutrients, 2022 - mdpi.com
In the Netherlands, abnormal New-Born Screening (NBS) results are communicated to
parents by the general practitioner (GP). Good communication and consequential trust in …
parents by the general practitioner (GP). Good communication and consequential trust in …
[PDF][PDF] Síndrome di Morquio (MPS IV): l'importanza di una diagnosi precoce
S Sestito, M Petrisano, D Concolino - RARE IS P UD, 2022 - malattierare.eu
La sindrome di Morquio (MPS IV), malattia genetica a trasmissione autosomica recessiva, è
causata dal deficit dell'attività di uno dei due enzimi deputati alla degradazione del cheratan …
causata dal deficit dell'attività di uno dei due enzimi deputati alla degradazione del cheratan …
[PDF][PDF] Ne born screening for se ere combined immunodeficienc: breaking the bubble
M Blom - 2022 - scholarlypublications …
Ne born screening for se ere combined immunodeficienc: breaking the bubble Ne born
screening for se ere combined immunodeficienc: breaking the bubble Blom, M. Citation Blom …
screening for se ere combined immunodeficienc: breaking the bubble Blom, M. Citation Blom …