State's newborn screening program saved twins' lives

January 9, 2012 By Erin Digitale

(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 state’s 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 state’s program, explaining its rationale. Although genetic diseases do not usually produce symptoms at birth, that’s 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 Sophia’s 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 Charlotte’s 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 Children’s. “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.”

California’s newborn is larger, both in terms of the number of children tested and the number of diseases screened, than any other in the country — and it’s 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.

California’s 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 Charlotte’s disorder, methylmalonic acidemia, was included in California’s 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. “It’s a life changer.”

Explore further: Medical genetics team pinpoints causes of inherited diseases

Related Stories

Medical genetics team pinpoints causes of inherited diseases

January 9, 2012
(Medical Xpress) -- A child’s diagnosis with a congenital deformity or developmental delay raises challenging questions: Could the problem be inherited? What’s the prognosis? If other children are born to the same ...

Baby A or Baby B? Packard Children's policy tracks twins’ identities from womb to birth

April 11, 2011
(PhysOrg.com) -- The trouble sounds drawn from a Shakespearean plot: Twins’ identities get mixed up; confusion ensues.

Fear, anxiety and embarrassment stop women going for breast screening

November 9, 2011
(Medical Xpress) -- Fear, anxiety and embarrassment are some of the main barriers preventing women from going for breast screening, but this alone does not account for the variations in uptake, according to new work presented ...

Recommended for you

To combat teen smoking, health experts recommend R ratings for movies that depict tobacco use

July 21, 2017
Public health experts have an unusual suggestion for reducing teen smoking: Give just about any movie that depicts tobacco use an automatic R rating.

Why sugary drinks and protein-rich meals don't go well together

July 20, 2017
Having a sugar-sweetened drink with a high-protein meal may negatively affect energy balance, alter food preferences and cause the body to store more fat, according to a study published in the open access journal BMC Nutrition.

Opioids and obesity, not 'despair deaths,' raising mortality rates for white Americans

July 20, 2017
Drug-related deaths among middle-aged white men increased more than 25-fold between 1980 and 2014, with the bulk of that spike occurring since the mid-1990s when addictive prescription opioids became broadly available, according ...

Aging Americans enjoy longer life, better health when avoiding three risky behaviors

July 20, 2017
We've heard it before from our doctors and other health experts: Keep your weight down, don't smoke and cut back on the alcohol if you want to live longer.

Parents have critical role in preventing teen drinking

July 20, 2017
Fewer teenagers are drinking alcohol but more needs to be done to curb the drinking habits of Australian school students, based on the findings of the latest study by Adelaide researchers.

Fresh fish oil lowers diabetes risk in rat offspring

July 19, 2017
Fresh fish oil given to overweight pregnant rats prevented their offspring from developing a major diabetes risk factor, Auckland researchers have found.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.