Most U.S. Newborns Now Screened for Genetic Disease

State-by-state 'report card' shows rates nearly doubled in two years.

By Carolyn Colwell
HealthDay Reporter
Wednesday, July 11, 2007; 12:00 AM

Copyright © 2007 ScoutNews, LLC. All rights reserved.

WEDNESDAY, July 11 (HealthDay News) -- Most American babies are now routinely tested at birth for an array of lethal or disabling genetic conditions, a new study from the March of Dimes finds.

In the last year, 88 percent of the nation's 4 million newborns received 21 or more of the 29 screening tests now recommended by the American College of Medical Genetics. Two years ago, just 38 percent of newborns received these tests.

"We're in the home stretch of a campaign for all babies to be screened for 20 or more genetic disorders," said Jennifer Howse, president of the March of Dimes. This testing is critical, she said, because the conditions involved are often treatable and "essentially the effects can be reversed if caught quickly."

Sickle cell anemia, congenital hypothyroidism, cystic fibrosis, hearing loss, phenyiketonuria (PKU, an enzyme deficiency), congenital adrenal hyperplasia, and galactosemia (another enzyme deficiency) are some of the most common genetic conditions included in the American College of Medical Genetic's list of 29 recommended screenings.

The screening test for 28 of the conditions involves taking a drop of blood from a newborn's heel before the baby leaves the hospital. Functional hearing loss -- which may affect as many as three to four newborns per thousand -- requires a separate assessment by a specialist, Howse explained.

The March of Dimes' Newborn Screening Report Card, released Tuesday, notes that 13 states -- Alaska, Colorado, Delaware, Iowa, Kentucky, Maryland, Minnesota, Mississippi, New Mexico, New York, Rhode Island, Virginia and Wyoming -- plus the District of Columbia currently mandate all 29 newborn screenings. Three more states -- Montana, Kansas and West Virginia -- are in the process of implementing a 29-test system.

Progress is being made in upgrading mandatory programs in states such as Montana, because "the 21st Century is the century of the Human Genome Project and the technology is there to be able to develop the tests to find the disorders," said Denise Higgins, supervisor of newborn screening for Montana's Public Health Laboratory.