UW-Madison lab celebrates nation's 50 years of newborn screening

2013-07-11T05:30:00Z UW-Madison lab celebrates nation's 50 years of newborn screeningDAVID WAHLBERG | Wisconsin State Journal | dwahlberg@madison.com | 608-252-6125 madison.com

Before the nearly 70,000 babies born in Wisconsin each year go home from the hospital, five drops of blood are collected from a prick of their heels.

Many parents may soon forget about the drops of blood, which are tested for 44 disorders not visible at birth.

But for the 125 or so infants found each year to have rare conditions that can cause brain or organ damage or death, early detection leads to treatments that can prevent complications and prolong lives.

The lab that does the testing, UW-Madison’s Wisconsin State Laboratory of Hygiene, is holding an open house Friday to celebrate the national 50th anniversary of newborn screening and highlight Wisconsin’s contributions to the field.

The testing, which costs $109 per child, is generally covered by insurance.

At least two of the disorders — phenylketonuria, or PKU, and hypothyroidism — can result in mental retardation and costly institutionalization if not treated early with special diets or medications.

“Just these two diseases alone makes the whole program make sense,” said Dr. Mei Baker, co-director of the state lab’s newborn screening laboratory.

Baker and co-director Patrice Held took over this year from longtime director Gary Hoffman, whose innovations to the lab will be featured during the open house.

The federal government says states should screen newborns for at least 29 disorders. Many states test for more, with a few doing more than the 44 Wisconsin does.

In Wisconsin, the blood samples are analyzed through a variety of testing methods at the lab on Henry Mall. Positive results are reported to families’ doctors, who perform follow-up tests to confirm the conditions and recommend treatments if appropriate.

Some of the conditions are obscure, such as a metabolic disorder called maple syrup urine disease. Other conditions are better known, such as cystic fibrosis and sickle cell disease — both of which can be better managed if treated early.

PKU was the first condition screened for anywhere in the country, in 1963. Wisconsin started testing for it two years later.

People with PKU can’t metabolize an amino acid found in nearly all protein. To prevent mental retardation, they avoid protein-rich foods and drink a formula to get other amino acids.

Hypothyroidism, in which the body doesn’t make enough thyroid hormone, is the most common of the conditions. About 50 babies are found with it each year.

Wisconsin was the second state to initiate newborn screening for cystic fibrosis, a lung and digestive disease, in 1985.

The state screened for fewer than 10 conditions until 2000, when the availability of mass spectrometry — a technique that allows for multiple tests on one blood sample — enabled a rapid expansion of screening.

In 2008, the state became the first in the country to screen for Severe Combined Immunodeficiency, or SCID, also known as “bubble boy” disease. About a dozen states test for the disease today.

Wisconsin’s pioneering role in SCID testing stemmed from a collaboration between the state lab, Children’s Hospital of Wisconsin in Milwaukee and the Jeffrey Modell Foundation.

It’s likely more disorders will be added to the list. But state officials are selective, assessing whether positive results can be confirmed quickly and if early detection makes a significant difference medically.

“We need to do this in a very responsible way,” Baker said.

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