From Our 2007 Archives

Most U.S. Newborns Now Screened for Genetic Disease

By Carolyn Colwell
HealthDay Reporter

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.

Montana expects to have its 29-condition mandatory screening program in place by the beginning of 2008, Higgins added. Until now, the state has required newborn screening tests for only four types of genetic disorders, although additional testing has been available at parents' requests. Montana is already is screening almost all of its 12,000 newborns each year and in about one-third of the cases parents have asked for expanded screening.

Pennsylvania, with nine tests required, and Arkansas, which requires seven tests, will be the only remaining states requiring newborn screening for less than 10 conditions. Washington State, Nebraska, Oklahoma, Massachusetts and New Hampshire's programs now mandate between 10 and 20 tests.

"The ironic thing is that in the states that don't do all these screens, when babies show up in the ER in dire circumstances, treatment -- although too little, too late -- is automatically provided," Howse added. It makes little fiscal sense not to screen, she said, because treatment for these conditions is expensive. Even more important, "babies can die or are terribly, terribly disabled for a long period of time," Howse said.

Treatments are simple and cheap for some conditions. Dr. Mariana Glusman, a pediatrician at Children's Memorial Pediatric Uptown Clinic in Chicago, said that she has seen cases of congenital hypothyroidism caught early through newborn screening.

After treatment with a thyroid hormone, such as Synthroid, the babies develop normally, Glusman said. Without such treatment, their growth and brain development would have been retarded. "These are very rare diseases," Glusman said, referring to the 29 conditions on the screening list. "Catching them early really makes a difference."

Five of the states that screen for 28 conditions do not automatically screen for functional hearing loss, although such screening is offered. Seven other states that mandate screening for 28 conditions do not require testing for cystic fibrosis, which has a prevalence of more than one in 5,000 babies, according to the March of Dimes data. The March of Dimes only recently has begun to recommend newborn screening for cystic fibrosis.

Dr. Shari Brasner, an assistant clinical professor of obstetrics, gynecology and reproductive science at Mount Sinai School of Medicine, in New York City, suspects that some states may not require cystic fibrosis screening in newborns because so many parents have themselves tested before the baby is born.

"We tests for cystic fibrosis in almost all our [newborn] patients regardless of ethnicity," she said, because there is a significant prevalence in every single ethnic group.

SOURCES: Shari Brasner, M.D., assistant clinical professor, obstetrics, gynecology and reproductive science, Mount Sinai School of Medicine, New York City; Jennifer Howse, Ph.D., president, March of Dimes, White Plains, N.Y.; Mariana Glusman, M.D., pediatrician, Children's Memorial Pediatric Uptown Clinic, Chicago; Denise Higgins, supervisor, newborn screening, Montana State Public Health Laboratory; July 10, 2007, Newborn Screening Report Card, March of Dimes

Copyright © 2007 ScoutNews, LLC. All rights reserved.