Expert Evaluation of Strategies to Modernize Newborn Screening in the United States.
Sign Up to like & getrecommendations! Published in 2021 at "JAMA network open"
DOI: 10.1001/jamanetworkopen.2021.40998
Abstract: Importance Novel therapies, including cell and gene therapies, can radically improve outcomes among patients with rare disorders, especially if provided early. Newborn screening (NBS) could support early access to novel therapies, but the speed of… read more here.
Keywords: system; newborn screening; screening; change ... See more keywords
Real-world Associations of US Cystic Fibrosis Newborn Screening Programs With Nutritional and Pulmonary Outcomes.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA pediatrics"
DOI: 10.1001/jamapediatrics.2022.2674
Abstract: Importance Newborn screening (NBS) for cystic fibrosis (CF) has been universal in the US since 2010, but its association with clinical outcomes is unclear. Objective To describe the real-world effectiveness of NBS programs for CF… read more here.
Keywords: age; cohort; age years; newborn screening ... See more keywords
Mandatory newborn screening in the United States: History, current status, and existential challenges
Sign Up to like & getrecommendations! Published in 2020 at "Birth Defects Research"
DOI: 10.1002/bdr2.1653
Abstract: Beginning in the 1960s, mandatory newborn screening (NBS) of essentially all infants has been a major public health success story. NBS is not just a blood test, rather, it is a complex, integrated system that… read more here.
Keywords: mandatory newborn; history current; united states; screening united ... See more keywords
Australian healthcare professionals' perspectives on the ethical and practical issues associated with genomic newborn screening
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1645
Abstract: Newborn bloodspot screening (NBS) is a successful public health initiative that seeks to identify serious, treatable medical conditions. The increasing use of genomic sequencing (GS) in a wide range of medical settings has reignited the… read more here.
Keywords: practical issues; issues associated; newborn screening; ethical practical ... See more keywords
Newborn screening for homocystinurias: Recent recommendations versus current practice
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12034
Abstract: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. read more here.
Keywords: practice newborn; newborn screening; screening homocystinurias; current practice ... See more keywords
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12563
Abstract: Newborn screening (NBS) for inherited metabolic diseases (IMDs) substantially shortens a patient's journey. It enables the early start of metabolic treatment which might prevent potentially lethal neonatal disease manifestations, while promoting favorable development and long‐term… read more here.
Keywords: long term; development; sds; metabolic diseases ... See more keywords
Sex‐specific newborn screening for X‐linked adrenoleukodystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12571
Abstract: Males with X‐linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal insufficiency and/or progressive leukodystrophy (cerebral ALD) at an early age. Pathogenic variants in ABCD1 result in elevated levels of very long‐chain fatty acids… read more here.
Keywords: specific newborn; linked adrenoleukodystrophy; c26 lpc; sex ... See more keywords
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12580
Abstract: Galactosemia is an inborn disorder of carbohydrate metabolism of which early detection can prevent severe illness. Although the assay for galactose‐1‐phosphate uridyltransferase (GALT) enzyme activity has been available since the 1960s, many issues prevented it… read more here.
Keywords: galactose phosphate; phosphate measurement; classical galactosemia; galactosemia ... See more keywords
False negatives in the newborn screening for Cystic Fibrosis in Western Andalusia: Results from a 10- year experience.
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric pulmonology"
DOI: 10.1002/ppul.26183
Abstract: Cystic fibrosis (CF) is the most common autosomal recessive disorder in the Caucasian population, with an incidence of 1:5000 live births. In 2011, the screening of CF was implemented in the Andalusian Public Health newborn… read more here.
Keywords: newborn screening; western andalusia; cystic fibrosis; sweat test ... See more keywords
Detection of disease‐causing CFTR variants in state newborn screening programs
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.26209
Abstract: Newborn screening (NBS) algorithms for cystic fibrosis (CF) vary in the United State of America and include different cystic fibrosis transmembrane conductance regulator (CFTR) variants. CFTR variant distribution varies among racial and ethnic groups. read more here.
Keywords: state; detection disease; cftr variants; disease causing ... See more keywords
Refinement of newborn screening for cystic fibrosis with next generation sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.26253
Abstract: Newborn screening for cystic fibrosis (CF) has been underway universally in the United States for more than a decade, as well in most European countries, and algorithms have been evolving throughout this period with quality… read more here.
Keywords: refinement newborn; screening cystic; fibrosis next; newborn screening ... See more keywords