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The disease rages through newborns within days of exposure to the bacteria and almost always leads to a quick and painful death.
The disease rages through newborns within days of their exposure to the bacteria and almost always delivers a swift, brutal and painful death.
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To demonstrate the feasibility of presymptomatic diagnosis of spinal muscular atrophy (SMA) through newborn screening (NBS).
Methodology This longitudinal, retrospective study included 75 children diagnosed through newborn screening, ages 7 to 13 years.
To generate and examine evidence in support of diagnosing cystic fibrosis (CF) early through newborn screening (NBS).
We diagnosed six newborn babies with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) through newborn screening in three years in Victoria (prevalence rate: 1 31,500).
A national survey of sweat test costs was used to estimate the annual expense for diagnosing CF in the United States through newborn screening.
To evaluate whether early diagnosis of cystic fibrosis (CF) through newborn screening (NBS) and early vitamin E status are associated with cognitive function.
Although the majority of cases of cystic fibrosis (CF) are now diagnosed through newborn screening, there is still a need to standardize the diagnostic criteria for those diagnosed outside of the neonatal period.
Conditions that can be detected through newborn screening include hormonal disorders like thyroid and adrenal abnormalities, blood disorders like sickle-cell anemia, severe immunodeficiencies, and dozens of enzyme disorders that result in a wide range of serious and sometimes fatal conditions.
These are facilitated by infrastructures such as tissue archives in pathology that are set up for healthcare purposes, disease-related patient registries, and archives of dried blood spot cards collected through newborn screening for congenital defects.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com