State's newborn screening program saved twins' lives
(Medical Xpress) -- Like a half-million other babies born in California in 2010, Sophia and Charlotte Gonzales each had a blood sample collected after their birth for the states newborn screening program. But in this instance, unlike many cases, those few precious drops were the difference between life and death: Without the newborn screening program, the identical twin sisters probably would not have survived their first week of life.
Any genetic disorder that comes to attention by symptoms is already at a disadvantage for treatment, said Fred Lorey, PhD, who directs the states newborn screening program, explaining its rationale. Although genetic diseases do not usually produce symptoms at birth, thats an ideal time to begin treating them. A quick response can often minimize or completely prevent symptoms, warding off consequences such as mental retardation, developmental delay, neurologic deterioration and death.
The routine is relatively straightforward. Blood samples, on filter paper, are overnighted to one of eight labs around the state that conduct the screening tests for 78 different genetic diseases. When Sophias test results came back a few days after birth, they showed a rare, serious metabolic disorder. Doctors were already aware that the girls seemed lethargic they were, in fact, slipping toward comas and the abnormal results raised an alarm that quick follow-up was needed.
Sophia and Charlottes disease is so rare that, without newborn screening to alert their doctors, their lethargy would likely have been mistaken as a sign of sepsis, said Gregory Enns, MD, their biochemical geneticist at Packard Childrens. This is the beauty of the newborn screen, Enns said. The doctor gets a call from the state lab saying, Look at this child more carefully. A flag is raised.
Californias newborn screening program is larger, both in terms of the number of children tested and the number of diseases screened, than any other in the country and its among the most sophisticated in the world. Other states currently screen for between 10 and 50 disorders, with most covering at least the 29 diseases recommended for screening by the federal government. Most developed countries have some form of newborn screening, and global population heavyweights China and India are now initiating programs of their own.
Californias program continues to expand, most recently adding Severe Combined Immune Deficiency (commonly known as bubble boy disease) in 2010. Screening costs, currently $102.75 per child, are covered by mothers health insurance or MediCal. For the 750 or so children per year with positive test results, the cost savings from timely diagnosis and treatment often rise into the millions of dollars.
Before the test for Sophia and Charlottes disorder, methylmalonic acidemia, was included in Californias newborn screening panel in 2005, Enns sometimes got reports from families devastated by missed diagnoses. I know of children who died before the newborn screening, he said. Its a life changer.
Provided by Stanford University Medical Center
- Medical genetics team pinpoints causes of inherited diseases Jan 09, 2012 | not rated yet | 0
- Diagnosing deafness early could help teenagers’ development Dec 09, 2010 | not rated yet | 0
- Baby A or Baby B? Packard Children's policy tracks twins’ identities from womb to birth Apr 11, 2011 | not rated yet | 0
- Fear, anxiety and embarrassment stop women going for breast screening Nov 09, 2011 | not rated yet | 0
- States expand newborn screening for life-threatening disorders Feb 18, 2009 | not rated yet | 0
- Motion perception revisited: High Phi effect challenges established motion perception assumptions Apr 23, 2013 | 3 / 5 (2) | 2
- Anything you can do I can do better: Neuromolecular foundations of the superiority illusion (Update) Apr 02, 2013 | 4.5 / 5 (11) | 5
- The visual system as economist: Neural resource allocation in visual adaptation Mar 30, 2013 | 5 / 5 (2) | 9
- Separate lives: Neuronal and organismal lifespans decoupled Mar 27, 2013 | 4.9 / 5 (8) | 0
- Sizing things up: The evolutionary neurobiology of scale invariance Feb 28, 2013 | 4.8 / 5 (10) | 14
Classical and Quantum Mechanics via Lie algebras
Apr 15, 2011 I'd like to open a discussion thread for version 2 of the draft of my book ''Classical and Quantum Mechanics via Lie algebras'', available online at http://lanl.arxiv.org/abs/0810.1019 , and for the...
- More from Physics Forums - Independent Research
More news stories
Calorie information in fast food restaurants used by 40 percent of 9-18 year olds when making food choices
A new study published online today (Thursday) in the Journal of Public Health has found that of young people who visited fast food or chain restaurants in the U.S. in 2010, girls and youth who were obese were more likely ...
Health 1 hour ago | not rated yet | 0
(HealthDay)—Implementation of systematic monitoring for medication adherence will allow for identification of barriers to adherence and tailoring of interventions, according to a viewpoint piece published ...
Health 3 hours ago | not rated yet | 0
(AP)—The Obama administration says more doctors and hospitals are embracing technology as adoption of computerized medical records reaches a "tipping point" in America.
Health 4 hours ago | not rated yet | 0
Johns Hopkins researchers report that hospitals may be reaping enormous income for patients whose hospital stays are complicated by preventable bloodstream infections contracted in their intensive care units.
Health 4 hours ago | not rated yet | 0
A University of Illinois researcher says that the cornerstone of our efforts to alleviate food insecurity should be to encourage more people to participate in the Supplemental Nutrition Assistance Program (SNAP) "because ...
Health 5 hours ago | not rated yet | 0
Swiss scientists reveal the mechanism responsible for aging hidden deep within mitochondria—and dramatically slow it down in worms by administering antibiotics to the young.
7 hours ago | 4.5 / 5 (2) | 0 |
(HealthDay)—Migraines and depression can each cause a great deal of suffering, but new research indicates the combination of the two may be linked to something else entirely—a smaller brain.
4 hours ago | 5 / 5 (1) | 0 |
Until now, little was scientifically known about the human potential to cultivate compassion—the emotional state of caring for people who are suffering in a way that motivates altruistic behavior.
4 hours ago | 5 / 5 (1) | 2 |
Researchers from Queen Mary, University of London have led the largest sequencing study of human disease to date, investigating the genetic basis of six autoimmune diseases.
7 hours ago | not rated yet | 0 |
A new approach for immunizing against influenza elicited a more potent immune response and broader protection than the currently licensed seasonal influenza vaccines when tested in mice and ferrets. The vaccine ...
4 hours ago | not rated yet | 0 |
An independent panel of experts on Wednesday recommended US approval of a new Merck sleeping pill called suvorexant, but expressed concerns over the highest dosage and risks of drowsy daytime driving.
2 hours ago | not rated yet | 0