Doctor promotes blood tests for babies

Doctor promotes blood tests for babies
State Health Department screens for 45 diseases with a few drops at birth

By CATHLEEN F. CROWLEY, Staff writer
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First published: Thursday, April 26, 2007

ALBANY — A drop of blood can change the course of a newborn baby’s life.

Five dabs of blood drawn from a newborn’s heel allow the state Health Department to test babies for 45 different diseases. Babies are screened for HIV, sickle-cell disease, cystic fibrosis and the most recent addition to the battery, Krabbe disease.

Early identification is crucial, said Dr. Michele Caggana, director of the state’s newborn screening program. Without the blood test, many of the diseases are difficult to diagnose and can cause irreparable harm. Early detection can avert life-changing handicaps and even death, she said.

Tonight, Caggana will talk about the screening program as part of a lecture series sponsored by the Wadsworth Center, the state’s public health research laboratory. The series, called “Science at Your Service,” highlights the science performed at the state lab.

The state lab tested blood samples from 252,000 newborns in 2006, and 18,600 of the tests showed signs of a disease, according to statistics from the health department.

Every morning at Wadsworth’s Biggs Laboratory, state workers sift through Federal Express shipments from hospitals around the state. The mailbag delivers 500 to 2,500 blood samples from babies born over the previous few days.

Caggana predicted the samples will spike in November, nine months after the Valentine’s Day blizzard.

By 11 a.m., all the specimens are logged into the computer system and given a number. The index-size cards each have five drops of blood, called Guthrie spots, that spread into half-inch circles. From each card, a technician takes nine hole punches, a little smaller than the standard office tool. The “punches” are placed in trays and sent for testing overnight.

Diseases like congenital adrenal hyperplasia and galactosemia, both enzyme disorders, are urgent. Untreated, a baby can die within weeks. If a test returns with a positive result for one of those high-level diseases, the health department calls the baby’s pediatrician immediately, Caggana said.

The call can oftentimes be made 24 to 48 hours after the baby’s birth, she said.

“There’s staff that is dedicated every step of the way. They really, really work hard to make sure everything is correct,” Caggana said.

Newborn screening in New York began in 1965. At first, only phenylketonuria, a disease that causes brain damage, was tested. The program expanded to eight diseases in the late 1960s and did not change for two decades until new technology allowed the lab to perform more tests on a single hole punch.

In 2002, the health department added more than 20 diseases to its panel of tests, and the number eventually grew to 45.

Testing is regulated by state public health law. Health officials ask several questions before adding a disease to the screening program: Is the disease difficult to identify at birth? Is there a reliable test for the disease? Is it treatable? And is there a system in place to treat babies who have it?

“The whole premise behind newborn screening is that you pick up something that is not obvious at birth so you can find it and treat it before the baby suffers bad effects from the disease,” Caggana said.

The department is considering testing for several more diseases, including severe combined immunodeficiency disease (SCID), better known as bubble boy disease. Wisconsin is running a pilot program for SCID, which can be treated with a relatively simple bone marrow transplant if diagnosed within the first months of a child’s life.

“To me, it sounds like a good candidate,” Caggana said.

Cathleen F. Crowley can be reached at 518-454-5348 or by e-mail at ccrowley

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