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
Identification of an RSPH4A Founder Variant and Newborn Screening for Primary Ciliary Dyskinesia
Sign Up to like & getrecommendations! Published in 2025 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2025.30551
Abstract: This cross-sectional study estimates the prevalence of an RSPH4A variant identified in Puerto Rico in an effort to evaluate the feasibility of targeted newborn screening for primary ciliary dyskinesia (PCD). read more here.
Keywords: newborn screening; ciliary dyskinesia; rsph4a; screening primary ... 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
Early spinal muscular atrophy treatment following newborn screening: A 20‐month review of the first Italian regional experience
Sign Up to like & getrecommendations! Published in 2024 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.52018
Abstract: Mandatory newborn screening (NBS) for spinal muscular atrophy (SMA) was implemented for the first time in Italy at the end of 2021, allowing the identification and treatment of patients at an asymptomatic stage. read more here.
Keywords: newborn screening; spinal muscular; treatment; muscular atrophy ... 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
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12731
Abstract: The current German newborn screening (NBS) panel includes 13 inherited metabolic diseases (IMDs). In addition, a NBS pilot study in Southwest Germany identifies individuals with propionic acidemia (PA), methylmalonic acidemia (MMA), combined and isolated remethylation… read more here.
Keywords: neonatal cbl; acidemia; newborn screening; methylmalonic acidemia ... See more keywords