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Newborn screenings celebrates 50 years of work at the state Hygienic Lab

BY STACEY MURRAY | APRIL 18, 2013 5:00 AM

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This year marks the 50th anniversary of newborn screenings for genetic disorders, and the State Hygienic Lab continues to trek forward with a new screening set to launch next month, potentially saving lives from a new disorder.

“As time goes on, [SCID] will be apparent and can be devastating,” said Mike Ramirez, a clinical lab supervisor at the Hygienic Lab. “The worst case scenario is the child could die, and that’s why the screening is so valuable.”

The program is in the midst of adding another condition to its screenings. Officials estimate SCID, or severe combined immunodeficiency, affects roughly one in 60,000 children nationwide. This number is only an estimate because of the complexity of the disease.

SCID is a deficiency syndrome where babies are born without T-cells — the basis of the immune system. If caught early, bone-marrow or stem-cell transplants can cure the deficiency. If the diagnosis lags, children are susceptible to infections they are unable to fight off. These infections can lead to death.

The screening test is under development and the lab expects to launch it within four to six weeks.
But the program hasn’t been an easy development.

“As with anything in the biological research, implementing a new screening test like this is a lot of work,” Ramirez said. “It requires getting a lot of pieces in place.”

The development of the SCID tests follows years of research regarding the deficiency.

Mary Beth Fasano, the lab’s SCID consultant, said researchers have spent the last 15 to 20 years finding a way to detect the absence of the T-cells, and recent developments led to detectable results.
Iowa will join 12 states that currently screen for SCID.

But as the lab moves forward, it also looks back.

The state Hygienic Lab has screened newborns since 1966. Over the decades, the lab has increased its screening as awareness and treatments of conditions have become more available.

The lab screens newborns from Iowa, North Dakota, and South Dakota. These screens monitor the 39,000 births per year in Iowa, with an additional 25,000 births from North and South Dakota.

Roughly 1 million babies have been helped as a part of Iowa’s screening programs.

Blythe Stanfel knows first-hand the importance of these tests.

Roughly 10 years ago, she gave birth to her first son, Josh. As the bliss of a new baby settled, Stanfel was informed Josh had PKU — a rare genetic condition that prevents the child from breaking down certain amino acids. This build up of acids over time leads to the development of an intellectual disability.

But the Hygienic Lab’s tests led to Josh living a healthy life with no developmental problems.
Those tests inspired passion for newborn testing and the work of the Hygienic Lab in his mother.

“Anytime you can prevent something — disease or the outcomes of any kind of disorder, you can find it’s beneficial,” Stanfel said. “I am all for any tests to add to the quality of life for the child.”

While the lab has seen success in newborn screenings, Fasano said the future demonstrates Iowa’s screening practices as a potential leader.

“I think it’s going to be one of the best in the country,” Fasano said. “I think other states can probably learn from the efforts of our state lab.”


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