Newborn Screening
With these new test platforms, there is the potential to test for hundreds of conditions we don't fully understand - Lainie Friedman Ross
image by: Maile and Justin McCarthy
HWN Suggests
Perils of Newborn Screening
The first symptoms often appear a month or two after birth. The babies' muscles stiffen. They lose their hearing and vision, stop sleeping and scream in pain. Some develop seizures. By the time many parents learn that their children have Krabbe disease—a rare genetic disorder that degrades nerve cells—it is too late for the only viable treatment, a transfusion of umbilical cord blood stem cells from healthy donors. Children with full-blown Krabbe who do not receive medical treatment, as well as many who do get treated, usually die by age two.
In some cases, doctors can prevent this grim outcome by screening infants at birth for genetic harbingers of disease. Right now such tests…
Featured
Newborn Screening Portal
Newborn screening identifies conditions that can affect a child’s long-term health or survival. Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential.
Phenylketonuria (PKU) – the poster child for newborn screening!
Phenylketonuria, or PKU, is a rare inborn error of metabolism caused by a defect in the PAH gene that prohibits the correct production of an enzyme needed to process the amino acid phenylalanine. If detected at birth a full and normal life is possible by modifying the intake of this one amino acid. If undetected, the individual inexorably declines cognitively, and behaviorally.
Articles of Interest
Do you really want to know what's in your baby's genome?
It's unclear how much information is helpful, and how much is hurtful.
Newborn screening in the genomics era: are we ready for genome sequencing?
Recent advances in next generation sequencing (NGS) could potentially revolutionize newborn screening, the largest public health genetics program in the United States and around the world.
Resources
5 Newborn Tests And Treatments Your Baby In NICU Probably Doesn't Need
That’s not to say the tests and treatments in the list below should never be used. Rather, they should be ordered when there is a reason to do so instead of simply being the default
Baby's First Test
Baby's First Test houses the nation's newborn screening clearinghouse. The clearinghouse provides current educational and family support and services information, materials, and resources about newborn screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
Newborn Screening Portal
Newborn screening identifies conditions that can affect a child's long-term health or survival. Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential.
NewbornScreening.info
Expanded newborn screening using new technologies.
The Robert Guthrie Legacy Project
Dr. Robert Guthrie (1916-1995) is the American scientist who launched the field of newborn screening, credited with saving tens of thousands of infants worldwide from irreversible brain damage and death. This website is dedicated to telling his personal and professional journeys, to preserving archival material only found in print and to consolidating the many references found about him online.
