News tagged with newborn screening
Genetic defect causing fragile X-related disorders more common than thought
A single genetic defect on the X chromosome that can result in a wide array of conditions—from learning and emotional difficulties to primary ovarian insufficiency in women and tremors in middle-aged men—occurs at a much ...
Genetics
Dec 20, 2012 |
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Research discovers likely basis of birth defect causing premature skull closure in infants
An international team of geneticists, pediatricians, surgeons and epidemiologists from 23 institutions across three continents has identified two areas of the human genome associated with the most common ...
Genetics
Nov 18, 2012 |
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Scientific progress could be casualty in public health vs. privacy debate over newborn blood samples
The tremendous potential public health benefits of research with blood samples left over after routine newborn screening must not be lost amidst controversy and litigation, say medical and bioethics experts in a commentary ...
Other
Nov 07, 2012 |
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Parents seen as critical stakeholders in expanding newborn screening
Parents must be considered when states decide to expand genetic screening programs for newborns, according to a new study that looked at mandatory testing panels and political pressure by advocacy groups.
Pediatrics
Jun 21, 2012 |
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Relationship of medical interventions in childhood and prevalence of later intellectual disability
A study by Jeffrey P. Brosco, M.D., Ph.D., of the University of Miami, Florida, and colleagues examines the relationship between medical interventions in early childhood and the increasing prevalence of later intellectual ...
Pediatrics
Apr 29, 2013 |
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Infant tests for debilitating diseases set for mainstream
(Medical Xpress)—Michael Gelb and František Tureček have worked more than a decade to devise and implement newborn screening for some debilitating, often-fatal conditions that show up in the first year ...
Diseases, Conditions, Syndromes
Apr 02, 2013 |
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Unique study highlights importance of universal newborn screening for lethal genetic disorder
Contrary to current belief, routine newborn screening improves the detection of the lethal form of congenital adrenal hyperplasia (CAH) in girls as well as boys, saving lives in both sexes, according to a unique study of ...
Diseases, Conditions, Syndromes
Feb 25, 2013 |
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New guidelines issued for genetic screening in newborns, children
(HealthDay)— New guidelines on testing newborns and children for genetic diseases recommend screening for childhood diseases but note that testing for diseases that strike in adulthood may not be worthwhile.
Genetics
Feb 21, 2013 |
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Archived Guthrie cards find a new purpose
Over the last 50 years, the spotting of newborn's blood onto filter paper for disease screening, called Guthrie cards, has become so routine that since 2000, more than 90% of newborns in the United States ...
Genetics
Aug 22, 2012 |
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Soy linked to exacerbated congenital hypothyroidism
(HealthDay) -- Soy products appear to interfere with levothyroxine absorption and can exacerbate congenital hypothyroidism in infants and young children, according to a case report published online Aug. 20 ...
Pediatrics
Aug 20, 2012 |
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Focus on quality ups newborn screening follow-up
(HealthDay) -- Primary care pediatric practices can improve short-term newborn screening (NBS) follow-up through quality-improvement processes, according to a study published online Aug. 6 in Pediatrics.
Pediatrics
Aug 06, 2012 |
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Undergrads invent cell phone screener to combat anemia in developing world
Could a low-cost screening device connected to a cell phone save thousands of women and children from anemia-related deaths and disabilities?
Medical research
Jul 24, 2012 |
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Newborn screening may miss adrenal-gland disorder
(HealthDay) -- Routine newborn screening failed to identify about one-fifth of infants with an adrenal gland disorder called congenital adrenal hyperplasia, a new study has found.
Diseases, Conditions, Syndromes
Jun 12, 2012 |
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Newborn screening for DMD shows promise as an international model
Investigators at Nationwide Children's Hospital, working with the DNA Sequencing Core Facility at the University of Utah, have developed an approach to newborn screening (NBS) for the life-threatening genetic disorder, Duchenne ...
Neuroscience
Mar 19, 2012 |
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No increase in commonest preventable cause of intellectual disability over 20 years
A new study that was prompted by recent reports of an increase in cases of congenital hypothyroidism in the United States, and aimed at assessing the incidence of this condition among Quebec newborns, suggests that the increase ...
Diseases, Conditions, Syndromes
Jul 19, 2011 |
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