Current newborn screening in the U.S. identifies metabolic and endocrine disorders via genetic screening in roughly 5,000 babies each year. If all states adopted standard screening, at least another 1,000 babies with these conditions that are treatable would be detected annually, according to an estimate by a task force of the Health Resources and Services Administration (HRSA) of the U.S. Department of Human Services.

It also is estimated that at least 30,000 children annually, and probably many more, have been saved from mental retardation, other cognitive disorders, even death, as the result of improved screening worldwide.

Newborn screening was started in order to detect the enzyme abnormality phenylketonuria, or PKU. Once the leading cause of mental retardation, PKU now is detected in about one out of every 12,000 babies.

The incidence of conditions range from one in 4,000 for hypothyroidism to 1 in every 60,000 for biotinidase deficiency. Even more rare is the incidence of 1 out of 200,000 for homocystinuria.

“The 29 conditions all have a treatment, according to the experts,” Peter van Dyck, MD, associate administrator for the Maternal and Child Health bureau of HRSA, told Diagnostics & Imaging Week. He added that current technology can identify another 25 conditions for which there are efficacious treatments.

Because these diseases are so uncommon – about 4,000 of the 4 million babies born each year are affected – few parents know about the opportunities for supplemental screening unless doctors inform them.

So it becomes a matter of education.

In response, the March of Dimes (White Plains, New York) and HRSA have begun to distribute pamphlets for expectant mothers and participate in prenatal education.

— Christopher Delporte, Washington Editor

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