If you have ever welcomed a new baby into the world, you know the mix of hope and uncertainty that comes with those first days. For decades, newborn screening has been a quiet triumph of public health ...
Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the ...
The US Department of Health and Human Services (HHS) has added two rare congenital neurologic disorders — Duchenne muscular dystrophy (DMD) and metachromatic leukodystrophy (MLD) — to the newborn ...
A positive newborn screening for spinal muscular atrophy (SMA) is currently considered a medical emergency. Without early treatment, severe disability or death in infancy are likely. However, research ...
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Next-generation sequencing expands possibilities for newborn screening
Every year, millions of newborns undergo routine screening as a preventive strategy to detect inherited disorders before ...
Newborn screening for genetic metabolic diseases helps a portion of children stay healthy as they grow, but decompensation episodes still occur in the first weeks after birth before test results come ...
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