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 …
Precision newborn screening for lysosomal disorders
MM Minter Baerg, SD Stoway, J Hart, L Mott… - Genetics in …, 2018 - nature.com
Purpose The implementation of newborn screening for lysosomal disorders has uncovered
overall poor specificity, psychosocial harm experienced by caregivers, and costly follow-up …
overall poor specificity, psychosocial harm experienced by caregivers, and costly follow-up …
Psychological and ethical challenges of introducing whole genome sequencing into routine newborn screening: lessons learned from existing newborn screening
As a psychologist and an ethicist, we have explored empirically newborn screening consent
and communication processes. In this paper we consider the impact on families if newborn …
and communication processes. In this paper we consider the impact on families if newborn …
[图书][B] Saving babies? The consequences of newborn genetic screening
S Timmermans, M Buchbinder - 2019 - degruyter.com
It has been close to six decades since Watson and Crick discovered the structure of DNA
and more than ten years since the human genome was decoded. Today, through the …
and more than ten years since the human genome was decoded. Today, through the …
The impact of false-positive newborn screening results on families: a qualitative study
JL Schmidt, K Castellanos-Brown, S Childress… - Genetics in …, 2012 - nature.com
Purpose: Newborn screening leads to improved treatment and disease outcomes, but false-
positive newborn screening results may cause distress for parents. The purpose of this study …
positive newborn screening results may cause distress for parents. The purpose of this study …
Parents' experiences of expanded newborn screening evaluations
OBJECTIVE: Abnormal results of newborn screening for common metabolic diseases are
known to create substantial distress for parents. We explored parents' perceptions during …
known to create substantial distress for parents. We explored parents' perceptions during …
A nationwide retrospective observational study of population newborn screening for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in the Netherlands
EA Jager, MM Kuijpers, AM Bosch… - Journal of Inherited …, 2019 - Wiley Online Library
To evaluate the Dutch newborn screening (NBS) for medium‐chain acyl‐CoA
dehydrogenase (MCAD) deficiency since 2007, a nationwide retrospective, observational …
dehydrogenase (MCAD) deficiency since 2007, a nationwide retrospective, observational …
Parents' experience of the communication process of positivity at newborn screening for metabolic diseases: A qualitative study
Background The process of receiving a communication of positivity for metabolic diseases at
expanded newborn screening (ENBS) is extremely articulated, involves a variety of actors …
expanded newborn screening (ENBS) is extremely articulated, involves a variety of actors …
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study
MD Karaceper, P Chakraborty, D Coyle… - Orphanet journal of rare …, 2016 - Springer
Background There is no consensus in the literature regarding the impact of false positive
newborn screening results on early health care utilization patterns. We evaluated the impact …
newborn screening results on early health care utilization patterns. We evaluated the impact …
Experience with parent follow-up for communication outcomes after newborn screening identifies carrier status
MH Farrell, ALP Kirschner, A Tluczek, PM Farrell - The journal of pediatrics, 2020 - Elsevier
Objective To conduct interviews with a multiyear sample of parents of infants found to have
heterozygous status for sickle cell hemoglobinopathy or cystic fibrosis during newborn blood …
heterozygous status for sickle cell hemoglobinopathy or cystic fibrosis during newborn blood …